The natural history of Unverricht-Lundborg disease: a report of eight genetically proven cases
Child; Female; Humans; Male; Adult; Disease Progression; Age Factors; Severity of Illness Index; Magnetic Resonance Imaging; adolescent; Q3 Literature Search; Diagnosis; Differential; Chromosomes; Human; Electroencephalography; Atrophy/complications/pathology; Auditory; Brain Stem/physiology; Brain/pathology/physiopathology; Cerebellar Ataxia/complications/diagnosis; Cerebellum/pathology/physiopathology; Dementia/complications/diagnosis; Dystonia/complications/diagnosis; Electromyography; Evoked Potentials; Evoked Potentials/physiology; Myoclonus/complications/diagnosis; Neuropsychological Tests; Pair 21/genetics; Seizures/complications/diagnosis; Unverricht-Lundborg Syndrome/diagnosis/genetics/physiopathology
We report eight cases of genetically proven ULD, with the aim of reassessing the clinical characteristics and natural history of ULD in genetically characterized patients. The eight patients had their first symptoms at mean age of 10.6 years (range: 6-14 years). The main clinical features were action myoclonus, cerebellar ataxia, seizures, and mild intellectual dysfunction. We report three new clinical features of ULD; ocular motor apraxia, dystonia, and rapidly progressive dementia. All patients needed a combination of at least four antimyoclonic drugs, but despite this, all patients were severely disabled by their action myoclonus. After a mean duration of disease of 29.9 years (range: 21-37 years), four patients were walking with aids while another four were wheelchair bound. The clinical phenotypes associated with ULD are more diverse than previously recognized and even though the long term functional outcome and survival have improved, the overall efficacy of antimyoclonic drugs remains unsatisfactory.
2008
Chew NK; Mir P; Edwards MJ; Cordivari C; Martino D; Schneider SA; Kim HT; Quinn NP; Bhatia KP
Movement Disorders: Official Journal Of The Movement Disorder Society
2008
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Journal Article
<a href="http://doi.org/10.1002/mds.21812" target="_blank" rel="noreferrer">10.1002/mds.21812</a>
Lung disease in Niemann-Pick disease
Child; Female; Humans; Male; Prognosis; Severity of Illness Index; Biopsy; Preschool; infant; Q3 Literature Search; Diagnosis; Differential; Lung Diseases; Respiratory Function Tests; Bronchoalveolar Lavage; Bronchoalveolar Lavage Fluid/cytology; Interstitial/diagnosis/etiology/physiopathology; Niemann-Pick Diseases/complications; Radiography; Thoracic
BACKGROUND: Lung involvement in children with Niemann-Pick disease has rarely been studied systematically. OBJECTIVE: To assess the involvement of the lung and the value of bronchoalveolar lavage in children with Niemann-Pick diseases. DESIGN: Retrospective analysis of patient records. PATIENTS: Thirteen patients, with type A (n = 1), type B (n = 10), and type C (n = 2) Niemann-Pick disease, aged 2 months to 9 years at diagnosis, were included in the study. INTERVENTIONS: Lung involvement was assessed by clinical evaluation, chest radiograph, lung computed tomography (CT) scan, pulmonary function tests, and bronchoalveolar lavage fluid analysis. RESULTS: Respiratory symptoms were present at diagnosis in 10 patients and developed during follow up in the three other patients. All patients showed signs of interstitial lung disease on chest X-ray and lung CT scan. Bronchoalveolar lavage fluid analysis (n = 7) revealed a marked accumulation of foamy macrophages (Niemann-Pick cells) in all patients. At follow up, one patient died of respiratory failure, five patients required long term oxygen therapy and seven other patients presented a chronic obstructive pulmonary disease (n = 6) or chronic cough (n = 1). CONCLUSION: Lung disease was observed in all the patients included in the present study. Bronchoalveolar lavage may be useful in Niemann-Pick diseases by showing the presence of characteristic Niemann-Pick cells.
2007
Guillemot N; Troadec C; de Villemeur TB; Clement A; Fauroux B
Pediatric Pulmonology
2007
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Journal Article
<a href="http://doi.org/10.1002/ppul.20725" target="_blank" rel="noreferrer">10.1002/ppul.20725</a>
Late consequences of chronic pediatric illness
Child; Humans; Time Factors; adolescent; Arthritis; Diagnosis; Differential; Heart Defects; Chronic Disease/psychology; Congenital/diagnosis/epidemiology/psychology; Cystic Fibrosis/diagnosis/epidemiology/psychology; Juvenile Rheumatoid/diagnosis/epidemiology/psychology; Mental Disorders/diagnosis/epidemiology/etiology
There are many challenges in coping with and adapting to life with a chronic disease, and increased survival cannot be assumed to be associated with increased quality of life. A recent systematic review shows there is wide variation in outcomes depending on the definitions and measurements used to estimate the prevalence of chronic health conditions, making the impact of disability on children's health and social functioning difficult to assess; various authors have called for an international consensus about the conceptual definition of chronic health conditions in childhood. It frequently is difficult to determine if problems in psychosocial functioning are caused by the underlying illness, by treatment, or by the resultant effects of either illness or treatment on physical growth or cognitive development. Assessment and treatment of mental health should be an integral component of the comprehensive care of chronically ill children and adolescents. Transition of care is an important process that addresses significant changes from child-oriented to adult-oriented care. Adults who have chronic health conditions should continue to be evaluated periodically for late consequences of the childhood illness and early medical care, and attention should be paid to their ongoing psychosocial, psychiatric, educational, and vocational needs.
2007
Turkel S; Pao M
The Psychiatric Clinics Of North America
2007
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Journal Article
<a href="http://doi.org/10.1016/j.psc.2007.07.009" target="_blank" rel="noreferrer">10.1016/j.psc.2007.07.009</a>
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management
Female; Humans; Male; Diagnosis; Differential; Duchenne/diagnosis/genetics/therapy; Glucocorticoids/administration & dosage/adverse effects/therapeutic use; Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is a severe, progressive disease that affects 1 in 3600-6000 live male births. Although guidelines are available for various aspects of DMD, comprehensive clinical care recommendations do not exist. The US Centers for Disease Control and Prevention selected 84 clinicians to develop care recommendations using the RAND Corporation-University of California Los Angeles Appropriateness Method. The DMD Care Considerations Working Group evaluated assessments and interventions used in the management of diagnostics, gastroenterology and nutrition, rehabilitation, and neuromuscular, psychosocial, cardiovascular, respiratory, orthopaedic, and surgical aspects of DMD. These recommendations, presented in two parts, are intended for the wide range of practitioners who care for individuals with DMD. They provide a framework for recognising the multisystem primary manifestations and secondary complications of DMD and for providing coordinated multidisciplinary care. In part 1 of this Review, we describe the methods used to generate the recommendations, and the overall perspective on care, pharmacological treatment, and psychosocial management.
2010
Bushby K; Finkel R; Birnkrant DJ; Case LE; Clemens PR; Cripe L; Kaul A; Kinnett K; McDonald C; Pandya S; Poysky J; Shapiro F; Tomezsko J; Constantin C; DMD Care Considerations Working Group
Lancet Neurology
2010
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Journal Article
<a href="http://doi.org/10.1016/S1474-4422(09)70271-6" target="_blank" rel="noreferrer">10.1016/S1474-4422(09)70271-6</a>
Diagnostic evaluation using whole-body technetium bone scan in children with cerebral palsy and pain.
Child; Female; Humans; Male; Pain Measurement; Adult; Severity of Illness Index; Reproducibility of Results; adolescent; Preschool; retrospective studies; Emission-Computed; Tomography; Diagnosis; Differential; Bone and Bones/radionuclide imaging; Cerebral Palsy/complications/radionuclide imaging; Pain/etiology/radionuclide imaging; Single-Photon/methods; Technetium/diagnostic use; Whole Body Imaging/methods
BACKGROUND: Pain in noncommunicative children can be difficult to localize and diagnose. The purpose of this study is to report our experience using a 3-phase whole-body technetium bone scan as a screening tool in identifying the source of persistent pain in children with profound disabilities who cannot communicate. METHODS: We reviewed the medical and imaging records of 45 patients who met the inclusion criteria of the study, which included a diagnosis of spastic quadriplegic cerebral palsy with severe motor and cognitive impairment, persistent pain of more than 1 week in duration with no recognizable source, and a 3-phase whole-body bone scan as part of the pain workup. RESULTS: The study group included 26 females and 19 males with an average age at presentation of 13.5 years (range, 3-20 years). A positive bone scan was seen in 24 patients (53%). The diagnosis and the source of pain were identified in all 24 patients with a positive bone scan, with the bone scan being instrumental in establishing a diagnosis or localization in 22 patients. An orthopaedic diagnosis was not established in the 21 other patients with a negative bone scan. Based on the bone scan results, additional imaging was obtained at the anatomical location indicated. The bone scan was used to establish a diagnosis of fracture in 10 of 24 patients. Other diagnoses included 3 patients with painful internal hardware, 2 with sinusitis, 2 with infections, and 1 with an obstructed kidney. CONCLUSIONS: Whole-body bone scan is a viable imaging option to identify the source of persistent pain in children who are noncommunicative. The bone scan can assist in localizing the source of pain and direct the location for further imaging as needed.
2008-02
Bajelidze G; Belthur MV; Littleton AG; Dabney Kirk W; Miller F
Journal Of Pediatric Orthopedics
2008
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Journal Article
<a href="http://doi.org/10.1097/BPO.0b013e3181558bc1" target="_blank" rel="noreferrer">10.1097/BPO.0b013e3181558bc1</a>
Lack of utility of abdominal x-rays in the evaluation of children with constipation: comparison of different scoring methods
Child; Female; Humans; Male; Observer Variation; retrospective studies; Diagnosis; Differential; Radiography; ROC Curve; Abdominal/methods; Colon/physiopathology/radiography; Colonic Diseases; Constipation/physiopathology/radiography; Fecal Incontinence/physiopathology/radiography; Feces; Functional/physiopathology/radiography; Gastrointestinal Transit; X-Rays
BACKGROUND AND AIM: Abdominal x-rays are used diagnostically in the evaluation of children with constipation. However, their clinical utility has not been established. The aim of the study was to assess the accuracy of different methods in identifying children with functional constipation (FC) or nonretentive fecal incontinence (NRFI). PATIENTS AND METHODS: Retrospective review of abdominal x-rays in which colonic transit (CT), Barr, Leech, and fecal loading (FL) scores were blindly measured by blinded pediatric gastroenterologists and a radiologist. Children were classified a priori as FC or NRFI. RESULTS: One hundred sixty patients (125 FC, 35 NRFI) were studied. There were significant differences (P 50% of NRFI had abnormal scores. CT discriminated better between FC and NRFI. There was a significant correlation (P < 0.05) between CT and Barr (0.45), Leech (0.41) and FL scores (0.36), and between Barr and Leech scores (r = 0.94). There was good intraobserver correlation between Barr, Leech, and FL scores but poor interobserver reproducibility. CONCLUSIONS: Although significant differences in overall FC and NRFI scores exist, the discriminative value is low for all scores. There is poor interobserver reproducibility of the Barr, Leech, and FL scores. These findings confirm the limited value of the plain abdominal x-ray in the evaluation of children with constipation.
2010
Pensabene L; Buonomo C; Fishman L; Chitkara D; Nurko S
Journal Of Pediatric Gastroenterology And Nutrition
2010
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Journal Article
<a href="http://doi.org/10.1097/MPG.0b013e3181cb4309" target="_blank" rel="noreferrer">10.1097/MPG.0b013e3181cb4309</a>
Diagnostic yield of brain biopsies in children presenting to neurology
Child; Female; Humans; Male; Odds Ratio; Predictive Value of Tests; Outcome and Process Assessment (Health Care); Preschool; infant; retrospective studies; Brain/pathology; Diagnosis; Differential; Children W/SNI; Epilepsy/pathology; Likelihood Functions; Decision Trees; Biopsy/statistics & numerical data; Brain Diseases/pathology; Neurodegenerative Diseases/pathology; Vasculitis/pathology
The role of brain biopsy is well established in patients with neoplastic lesions, with a diagnostic yield approaching 95%. The diagnostic yield of brain biopsy in adults with neurological decline varies from 20% to 43%. Only a few studies have examined the diagnostic yield of brain biopsy in children with idiopathic neurological decline. A retrospective analysis was conducted on all open and closed pediatric brain biopsies performed between January 1988 and May 2003. Biopsies were performed for diagnostic purposes in patients showing a progressively deteriorating neurologic course in whom less-invasive modalities such as neuroimaging, electroencephalography (EEG), and molecular genetic studies were either negative or inconclusive. Immunocompromised patients were included. Patients were excluded if the preoperative diagnosis was a neoplasm or if the patient was undergoing a resection as part of a work-up for intractable epilepsy. Each patient underwent numerous investigations before brain biopsy. The utility of each biopsy was analyzed. Sixty-six children had brain biopsies performed for diagnostic purposes during the study period. Patient ages ranged from 2 months to 16 years and 9 months at the time of biopsy. The diagnostic yield was 48.5% overall, with a yield of 68.8% between 1996 and 2003. Of the total, 26 (39.4%) biopsies were both diagnostic and useful. Patients most frequently presented with seizures (56.1%) and encephalopathy (33%). The most frequently diagnosed disease was vasculitis (18.2%). A total of 71.9% of patients with diagnostic biopsies improved with appropriate treatment. Brain biopsy in children had a diagnostic yield of 48.5% in our series. A specific diagnosis may help in management and outcome, especially with a diagnosis of vasculitis.
2008
Venkateswaran S; Hawkins C; Wassmer E
Journal Of Child Neurology
2008
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Journal Article
<a href="http://doi.org/10.1177/0883073807309254" target="_blank" rel="noreferrer">10.1177/0883073807309254</a>
Gastroesophageal reflux
Child; Humans; Prognosis; adolescent; Preschool; infant; Nervous System Diseases/complications; Nutritional Failure; Diagnosis; Differential; Digestive System; Pediatrics/methods; Proton Pumps/antagonists & inhibitors; Enzyme Inhibitors/therapeutic use; Diagnostic Techniques; Gastroesophageal Reflux/complications/diagnosis/physiopathology/therapy; Histamine H2 Antagonists/therapeutic use; Medical History Taking/methods; Respiratory Tract Diseases/etiology/prevention & control; Vomiting/diagnosis/etiology
2007
Michail S
Pediatrics In Review / American Academy Of Pediatrics
2007
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Journal Article
<a href="http://doi.org/10.1542/pir.28-3-101" target="_blank" rel="noreferrer">10.1542/pir.28-3-101</a>
An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient
Child; Humans; Male; Fatal Outcome; Preschool; Q3 Literature Search; Diagnosis; Differential; Amino Acid Metabolism; Amino Acids/blood; Inborn Errors/diagnosis; Ornithine Carbamoyltransferase Deficiency Disease/blood/diagnosis; Ornithine Carbamoyltransferase/deficiency; Orotic Acid/urine
We report a male patient with a history of recurrent idiopathic vomiting, normal plasma ammonia and glutamine concentrations in acute phase, who died at 3 years of age. Ornithine transcarbamylase deficiency was diagnosed after detecting elevated urinary orotate concentrations in a sample collected just before death, and the diagnosis was confirmed by DNA analysis.
2006
Burlina AB; Peduto A; Di Palma A; Bellizzi A; Sperli D; Morrone A; Burlina AP
Journal Of Inherited Metabolic Disease
2006
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Journal Article
<a href="http://doi.org/10.1007/s10545-006-0193-3" target="_blank" rel="noreferrer">10.1007/s10545-006-0193-3</a>
Decisions in diagnosing and managing chronic gastroesophageal reflux disease in children
Child; Humans; Biopsy; Esophagoscopy; Fundoplication; Medical History Taking; Diagnosis; Differential; Anti-Ulcer Agents/therapeutic use; Gastroesophageal Reflux/diagnosis/therapy; Proton Pumps/antagonists & inhibitors
Gastroesophageal reflux disease (GERD) presents in different ways in children, most commonly with vomiting, or with esophageal symptoms such as regurgitation, heartburn, or dysphagia. Extraesophageal symptoms and signs also frequently occur. Less well recognized is that abdominal pain is a relatively common mode of presentation. Although abdominal pain is common in school-aged children, GERD and other acid-related disorders such as peptic ulcer disease are relatively uncommon causes of such. A careful history will usually determine whether an acid-related disorder is in the differential diagnosis of abdominal pain. Early detection and treatment of GERD in children may prevent, attenuate, or heal complications such as failure to thrive or feeding refusal as well as pulmonary, ear-nose-and-throat disorders, erosive esophagitis, and peptic stricture. In children with persistent or severe symptoms and/or complications of GERD such as erosive esophagitis, the major treatment options are pharmacologic management with acid-suppressing medication, specifically proton pump inhibitors (PPIs), or antireflux surgery. For many patients, PPI treatment offers advantages over surgery. When given in adequate doses, PPIs can safely effect relief of GERD symptoms and healing of esophagitis in children. Antireflux surgery may work well in selected patients, but it carries significant risk of morbidity, including high failure rates, even in the short term. Some postoperative studies report that more than 60% of patients are back on medical treatment with proton pump inhibitors for recurrence of GERD symptoms, and a similar percentage have new symptoms that were not present before surgery. Death is uncommon but does occur and is an unacceptable risk in an otherwise healthy, low-risk individual. Laparoscopic surgery may have some disadvantages compared with open surgery, including a higher rate of redo operations. Studies show that many children undergo surgery for unclear indications, often with few preoperative diagnostic studies. The availability of highly effective medical therapy, together with more careful selection of patients for surgery, may result in better patient outcomes, with much lower operative rates.
2005
Hassall E
The Journal Of Pediatrics
2005
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Journal Article
<a href="http://doi.org/10.1016/j.jpeds.2004.11.034" target="_blank" rel="noreferrer">10.1016/j.jpeds.2004.11.034</a>
Care at the front line: Clinical decisions in the management of pediatric acid-related disorders
Child; Humans; Primary Health Care; Diagnosis; Differential; Abdominal Pain/etiology; Asthma/diagnosis; Gastroesophageal Reflux/diagnosis; Helicobacter Infections/diagnosis; Helicobacter pylori
2005
Gold BD
The Journal Of Pediatrics
2005
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Journal Article
<a href="http://doi.org/10.1016/j.jpeds.2004.11.035" target="_blank" rel="noreferrer">10.1016/j.jpeds.2004.11.035</a>
Fetal alcohol spectrum disorder: Canadian guidelines for diagnosis
Child; Female; Humans; infant; Pregnancy; Adult; Risk Factors; Non-U.S. Gov't; Research Support; Newborn; Diagnosis; Differential; Abnormalities; Multiple/diagnosis; Canada/epidemiology; Alcohol Drinking/prevention & control; Alcoholism/diagnosis/prevention & control; Ethanol; Fetal Alcohol Syndrome/diagnosis/epidemiology/prevention & control; Mass Screening/standards; Medical History Taking/standards; Nervous System Diseases/diagnosis; Physical Examination/standards; Pregnancy Complications/diagnosis/prevention & control; Prenatal Exposure Delayed Effects; Referral and Consultation/standards
The diagnosis of fetal alcohol spectrum disorder (FASD) is complex and guidelines are warranted. A subcommittee of the Public Health Agency of Canada's National Advisory Committee on Fetal Alcohol Spectrum Disorder reviewed, analysed and integrated current approaches to diagnosis to reach agreement on a standard in Canada. The purpose of this paper is to review and clarify the use of current diagnostic systems and make recommendations on their application for diagnosis of FASD-related disabilities in people of all ages. The guidelines are based on widespread consultation of expert practitioners and partners in the field. The guidelines have been organized into 7 categories: screening and referral; the physical examination and differential diagnosis; the neurobehavioural assessment; and treatment and follow-up; maternal alcohol history in pregnancy; diagnostic criteria for fetal alcohol syndrome (FAS), partial FAS and alcohol-related neurodevelopmental disorder; and harmonization of Institute of Medicine and 4-Digit Diagnostic Code approaches. The diagnosis requires a comprehensive history and physical and neurobehavioural assessments; a multidisciplinary approach is necessary. These are the first Canadian guidelines for the diagnosis of FAS and its related disabilities, developed by broad-based consultation among experts in diagnosis.
2005
Chudley AE; Conry J; Cook JL; Loock C; Rosales T; LeBlanc N; Public Health Agency of Canada's National Advisory Committee on Fetal Alcohol Spectrum Disorder
Canadian Medical Association Journal
2005
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Journal Article
<a href="http://doi.org/10.1503/cmaj.1040302" target="_blank" rel="noreferrer">10.1503/cmaj.1040302</a>
Distinguishing starvation from cachexia
Humans; Aged; Nutritional Status; Diagnosis; Differential; Nutrition Assessment; Energy Intake; Cachexia/diagnosis; Starvation/diagnosis
The poor response to hypercaloric feeding in ill adults may be caused by failure to distinguish cachexia from starvation (Table 1). The chief difference between starvation and cachexia is that refeeding reverses starvation but is less effective for cachexia. The ineffectiveness of refeeding in treating cachexia may explain some of the poor results from direct nutritional interventions in clinical trials. Simple starvation should respond to voluntary or involuntary hypercaloric feedings. The failure to demonstrate a more positive response may be caused by underlying cachexic states.
2002
Thomas DR
Clinics In Geriatric Medicine
2002
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Journal Article
<a href="http://doi.org/10.1016/s0749-0690(02)00032-0" target="_blank" rel="noreferrer">10.1016/s0749-0690(02)00032-0</a>
Early peripheral nervous system manifestations of infantile Krabbe disease
Female; Humans; Male; Biopsy; Family Health; infant; retrospective studies; Diagnosis; Differential; Demyelinating Diseases/pathology/physiopathology; Globoid Cell/pathology/physiopathology; Inclusion Bodies/pathology; Leukodystrophy; Peripheral Nervous System/pathology/physiopathology; Schwann Cells/pathology
Early infantile Krabbe disease is relatively frequent in the Muslim-Arab population in Israel. It can be easily diagnosed when it presents with the classic clinical picture characterized by central nervous system manifestations of spasticity, irritability, motor regression and seizures associated with a positive family history. We studied eight children diagnosed with Krabbe disease. In two of these children (25%), peripheral neuropathy was the single initial symptom and the only neurologic finding noted for a period of months. In these patients, diagnosis of Krabbe's disease was delayed and established only 9-11 months after the initial symptoms. In two other children with "classical picture" Krabbe disease, areflexia was noted on admission. The occurrence of peripheral neuropathy as an initial symptom in early infantile Krabbe disease may be underestimated. Krabbe disease should be considered in the differential diagnosis of early infantile peripheral neuropathy. Early diagnosis of affected children might be important for genetic counseling for families at risk.
2003
Korn-Lubetzki I; Dor-Wollman T; Soffer D; Raas-Rothschild A; Hurvitz H; Nevo Y
Pediatric Neurology
2003
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Journal Article
<a href="http://doi.org/10.1016/s0887-8994(02)00489-7" target="_blank" rel="noreferrer">10.1016/s0887-8994(02)00489-7</a>
Peripheral blood mononuclear cell beta-endorphin concentration is decreased in chronic fatigue syndrome and fibromyalgia but not in depression: preliminary report
Female; Humans; Male; Adult; Sensitivity and Specificity; Reproducibility of Results; Biomarkers of Pain; Diagnosis; Differential; Leukocytes; Mononuclear/immunology/metabolism; Fatigue Syndrome; beta-Endorphin/blood/immunology/metabolism; Chronic/blood/diagnosis/immunology; Depression/blood/diagnosis; Fibromyalgia/blood/diagnosis/immunology
OBJECTIVE: The aim of this study was to examine the possible role of the immune system in the pathophysiology of chronic fatigue syndrome and fibromyalgia syndrome and in the differential diagnosis of depression by investigating changes in peripheral blood mononuclear cell levels of beta-endorphin, an endogenous opioid known to be involved in regulation of the immune system function. DESIGN: Beta-endorphin concentrations were measured by radioimmunoassay in peripheral blood mononuclear cells from healthy controls (n = 8) and patients with chronic fatigue syndrome (n = 17), fibromyalgia syndrome (n = 5), or depression (n = 10). RESULTS: Beta-endorphin concentrations were significantly lower in patients with chronic fatigue syndrome or fibromyalgia syndrome than in normal subjects and depressed patients (p <0.001 and p <0.01, respectively). They were significantly higher in depressed patients than in controls (p <0.01). CONCLUSIONS: Evaluation of peripheral blood mononuclear cell beta-endorphin concentrations could represent a diagnostic tool for chronic fatigue syndrome and fibromyalgia and help with differential diagnosis of these syndromes versus depression. The results obtained are also consistent with the hypothesis that the immune system is activated in both chronic fatigue syndrome and fibromyalgia syndrome.
2002
Panerai AE; Vecchiet J; Panzeri P; Meroni P; Scarone S; Pizzigallo E; Giamberardino MA; Sacerdote P
The Clinical Journal Of Pain
2002
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Journal Article
<a href="http://doi.org/10.1097/00002508-200207000-00008" target="_blank" rel="noreferrer">10.1097/00002508-200207000-00008</a>
Infantile systemic hyalinosis or juvenile hyaline fibromatosis?
Child; Humans; Male; Preschool; Diagnosis; Differential; Hyalin; Fibroma/pathology; Skin Neoplasms/pathology
Infantile systemic hyalinosis and juvenile hyaline fibromatosis are presumably autosomal recessive inherited diseases of unknown origin in which accumulation of an amorphous, hyaline material occurs in the skin and other organs. Both disorders may show clinical overlapping, suggesting that they might represent different variants of the same disease spectrum. We describe a 6-year-old boy with such overlap. Salient features included papular skin lesions on his face and neck, gingival hyperplasia, perianal nodules, large subcutaneous tumors on the scalp, hyperpigmented plaques over the metacarpophalangeal joints and malleoli, limited joint movement, diffuse osteopenia, short stature, and persistent diarrhea. Histopathologic and ultrastructural studies confirmed the presence of hyalin material in the dermis. The term systemic hyalinosis involves both conditions and should be preferred until a clear distinction can be made between them.
2004
Urbina F; Sazunic I; Murray G
Pediatric Dermatology
2004
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Journal Article
<a href="http://doi.org/10.1111/j.0736-8046.2004.21214.x" target="_blank" rel="noreferrer">10.1111/j.0736-8046.2004.21214.x</a>
Infantile neuroaxonal dystrophy (Seitelberger's disease)
Humans; Magnetic Resonance Imaging; Diagnosis; Differential; Electroencephalography; Auditory; Brain Stem/physiology; Brain/pathology/physiopathology; Evoked Potentials; Disease Specific; Neuroaxonal Dystrophies/complications/diagnosis; Pantothenate Kinase-Associated Neurodegeneration/diagnosis; Seizures/diagnosis/etiology; Visual/physiology
2002
Gordon N
Developmental Medicine And Child Neurology
2002
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Journal Article
<a href="http://doi.org/10.1111/j.1469-8749.2002.tb00776.x" target="_blank" rel="noreferrer">10.1111/j.1469-8749.2002.tb00776.x</a>
New guidelines for the management of migraine in primary care
Humans; Questionnaires; Medical History Taking; Primary Health Care; Non-U.S. Gov't; Research Support; patient care team; referral and consultation; algorithms; Diagnosis; Differential; Patient Education; Migraine Disorders/diagnosis/prevention & control/therapy
Despite repeated initiatives over the past decade, migraine remains under-recognised, under-diagnosed and under-treated in everyday clinical practice. The Migraine in Primary Care Advisors (MIPCA) group has produced new guidelines for migraine management to attempt to rectify this situation. MIPCA is a group of physicians, nurses, pharmacists and other healthcare professionals dedicated to the improvement of headache management in primary care, who have also worked closely with the Migraine Action Association (the UK patients' group) in the development of these guidelines. The principles of the new MIPCA guidelines are: To arrange specific consultations for headache. To institute a system of detailed history taking, patient education and buy-in at the outset of the consultation. To utilise a new screening algorithm for the differential diagnosis of headache, which can be confirmed by further questioning, if necessary. To institute a process of management that is individualised for each patient, using a new algorithm. Assessing the impact on the patient's daily life is a key aspect of diagnosis and management. To prescribe only treatments that have objective evidence of favourable efficacy and tolerability. To utilise prospective follow-up procedures to monitor the success of treatment. To organise a team approach to headache management in primary care.
2002
Dowson AJ; Lipscombe S; Sender J; Rees T; Watson D; Migraine In Primary Care Advisors (MIPCA) - Migraine Guidelines Development Group
Current Medical Research And Opinion
2002
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Journal Article
<a href="http://doi.org/10.1185/030079902125001164" target="_blank" rel="noreferrer">10.1185/030079902125001164</a>
Classification and definition of disorders causing hypertonia in childhood
Child; Humans; Severity of Illness Index; Reproducibility of Results; Preschool; infant; Diagnosis; Differential; Dystonia/complications/diagnosis; Muscle Hypertonia/classification/etiology/physiopathology; Muscle Rigidity/complications/diagnosis; Muscle Spasticity/complications/diagnosis
OBJECTIVE: This report describes the consensus outcome of an interdisciplinary workshop that was held at the National Institutes of Health in April 2001. The purpose of the workshop and this article are to define the terms "spasticity," "dystonia," and "rigidity" as they are used to describe clinical features of hypertonia in children. The definitions presented here are designed to allow differentiation of clinical features even when more than 1 is present simultaneously. METHODS: A consensus agreement was obtained on the best current definitions and their application in clinical situations. RESULTS: "Spasticity" is defined as hypertonia in which 1 or both of the following signs are present: 1) resistance to externally imposed movement increases with increasing speed of stretch and varies with the direction of joint movement, and/or 2) resistance to externally imposed movement rises rapidly above a threshold speed or joint angle. "Dystonia" is defined as a movement disorder in which involuntary sustained or intermittent muscle contractions cause twisting and repetitive movements, abnormal postures, or both. "Rigidity" is defined as hypertonia in which all of the following are true: 1) the resistance to externally imposed joint movement is present at very low speeds of movement, does not depend on imposed speed, and does not exhibit a speed or angle threshold; 2) simultaneous co-contraction of agonists and antagonists may occur, and this is reflected in an immediate resistance to a reversal of the direction of movement about a joint; 3) the limb does not tend to return toward a particular fixed posture or extreme joint angle; and 4) voluntary activity in distant muscle groups does not lead to involuntary movements about the rigid joints, although rigidity may worsen. CONCLUSION: We have provided a set of definitions for the purpose of identifying different components of childhood hypertonia. We encourage the development of clinical rating scales that are based on these definitions, and we encourage research to relate the degree of hypertonia to the degree of functional ability, change over time, and societal participation in children with motor disorders.
2003
Sanger TD; Delgado MR; Gaebler-Spira D; Hallett M; Mink JW; Task Force on Childhood Motor Disorders
Pediatrics
2003
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Journal Article
<a href="http://doi.org/10.1542/peds.111.1.e89" target="_blank" rel="noreferrer">10.1542/peds.111.1.e89</a>
Cataplexy in variant forms of Niemann-Pick disease
Child; Female; Humans; Male; Adult; Preschool; Diagnosis; Differential; Cataplexy/complications/diagnosis; Electroencephalography; Epilepsy/diagnosis; Niemann-Pick Diseases/complications/diagnosis; Ophthalmoplegia/complications; REM; Sleep; Splenomegaly/complications
1982
Kandt RS; Emerson RG; Singer HS; Valle DL; Moser HW
Annals Of Neurology
1982
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Journal Article
<a href="http://doi.org/10.1002/ana.410120313" target="_blank" rel="noreferrer">10.1002/ana.410120313</a>
Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome
Child; Humans; Male; Preschool; Q3 Literature Search; Diagnosis; Differential; Lipid Metabolism; Inborn Errors/diagnosis; Liver/metabolism; Carnitine/deficiency/metabolism/therapeutic use; Muscles/metabolism; Reye Syndrome/diagnosis
A 3 1/2-year-old boy presented at three months of age with an acute episode of lethargy, somnolence, hypoglycemia, hepatomegaly, and cardiomegaly, which responded poorly to restoration of the blood sugar level to normal. The absence of ketonuria during subsequent episodes of severe hypoglycemia prompted a search for a defect in fatty acid oxidation. Plasma carnitine (2.0 to 5.0 mumol per liter), muscle carnitine (0.01 to 0.02 mumol per gram, wet weight) and liver carnitine (0.021 to 0.065 mumol per gram, wet weight) were all less than 5 per cent of the normal mean. During a 36-hour fast, ketones were barely detectable. Prolonged treatment with oral carnitine over a six-month period resulted in increased muscle strength, a dramatic reduction in cardiac size, relief of cardiomyopathy, partial repletion of carnitine levels in plasma and muscle, and complete repletion in the liver. Systemic carnitine deficiency is an easily treatable cause of recurrent Reye's-like syndrome. Its diagnosis requires measurement of carnitine levels.
1980
Chapoy PR; Angelini C; Brown WJ; Stiff JE; Shug AL; Cederbaum SD
The New England Journal Of Medicine
1980
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Journal Article
<a href="http://doi.org/10.1056/nejm198012113032403" target="_blank" rel="noreferrer">10.1056/nejm198012113032403</a>
Myopathy with mitochondrial changes presenting as respiratory failure in two brothers
Child; Humans; Male; Biopsy; Fatal Outcome; Q3 Literature Search; Diagnosis; Differential; Interstitial/diagnosis/pathology; Lung Diseases; Mitochondrial Myopathies/diagnosis/genetics/pathology; Needle; Nuclear Family; Respiratory Function Tests; Respiratory Insufficiency/etiology
Lemos AB; Mosquera J; Mate A; Sirvent J
Pediatric Pulmonology
1999
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Journal Article
<a href="http://doi.org/10.1002/(sici)1099-0496(199903)27:3%3C213::aid-ppul11%3E3.0.co" target="_blank" rel="noreferrer">10.1002/(sici)1099-0496(199903)27:3%3C213::aid-ppul11%3E3.0.co</a>
Niemann-Pick disease type C: Two cases and an update.
Female; Humans; Male; Middle Aged; Disease Progression; Longitudinal Studies; adolescent; Age of Onset; Cholesterol/metabolism; Esterification; Diagnosis; Differential; Cells; Cultured; Fibroblasts/metabolism; Niemann-Pick Diseases/diagnosis/physiopathology; Skin/pathology
We describe two patients with juvenile-onset Niemann-Pick disease type C (NPC) to illustrate the variable neurologic features of this condition. One presented with hypersplenism at age 10 and was misdiagnosed with Gaucher disease. He developed complex partial seizures in his teens but remained otherwise neurologically asymptomatic until his mid 30s. At age 45, he had mild dementia and dysarthria, vertical supranuclear ophthalmoplegia, axonal sensorimotor polyneuropathy, and cerebellar ataxia. The second patient presented with rapidly progressive dystonia at age 8, and mild hepatosplenomegaly, vertical supranuclear ophthalmoplegia, severe behavioral disorder, and dementia by age 14. The diagnosis of NPC was based on deficient cholesterol esterification and excessive lysosomal filipin staining in cultured skin fibroblasts. Current notions about diagnosis and pathogenesis of NPC are reviewed.
Uc EY; Wenger DA; Jankovic J
Movement Disorders: Official Journal Of The Movement Disorder Society
2000
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Journal Article
<a href="http://doi.org/10.1002/1531-8257(200011)15:6%3C1199::aid-mds1020%3E3.0.co" target="_blank" rel="noreferrer">10.1002/1531-8257(200011)15:6%3C1199::aid-mds1020%3E3.0.co</a>
Acute onset of X-linked adrenoleukodystrophy mimicking encephalitis
Humans; Male; Acute Disease; infant; Q3 Literature Search; Tomography; Diagnosis; Differential; X-Ray Computed; Adrenoleukodystrophy/diagnosis/drug therapy/genetics; Encephalitis/diagnosis; Erucic Acids/therapeutic use; Fatty Acids/blood; Linkage (Genetics); X Chromosome
We report the case of a 6-year-old boy with X-linked adrenoleukodystrophy (ALD). In view of the acute onset of vomiting, fever, and coma, encephalitis was initially suspected. However, brain magnetic resonance imaging demonstrated a pattern of demyelination that was consistent with ALD; this diagnosis was confirmed by the finding of elevated plasma very long-chain fatty acids levels. At presentation, the patient was hyponatremic. That this metabolic disturbance and the coma resolved within hours of the initiation of corticosteroid therapy suggests that the presenting symptoms were secondary to adrenal cortical insufficiency. Primary adrenal failure was confirmed by endocrinologic evaluation. Thrombocytopenia, hepatic transaminase abnormalities, anemia and leukopenia developed during the subsequent course of therapy with oleic acid and erucic acid.
1994
Zammarchi E; Donati MA; Tucci F; Fonda C; Fanelli F; Pazzaglia R
Brain & Development
1994
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Journal Article
<a href="http://doi.org/10.1016/0387-7604(94)90077-9" target="_blank" rel="noreferrer">10.1016/0387-7604(94)90077-9</a>
Update on genetic disorders affecting white matter
Child; Humans; Magnetic Resonance Imaging; Brain/pathology; Diagnosis; Differential; Brain Diseases/diagnosis/genetics/metabolism/pathology; Hereditary Central Nervous System Demyelinating Diseases/diagnosis/genetics/pathology
The classification of diseases affecting white matter has changed dramatically with the use of magnetic resonance imaging. Classical leukodystrophies, such as metachromatic leukodystrophy and Krabbe's disease, account for only a small number of inherited diseases that affect white matter. Magnetic resonance imaging has clarified genetic disorders that result in white matter changes or leukoencephalopathies. The term leukoencephalopathy is used to reflect the broader number of diseases that may cause as either primary or secondary changes in myelin development. This review attempts to categorize white matter disorders into classes such as lipid, myelin protein, organic acids, and defects in energy metabolism, in addition to other causes.
2001
Kaye EM
Pediatric Neurology
2001
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Journal Article
<a href="http://doi.org/10.1016/s0887-8994(00)00232-0" target="_blank" rel="noreferrer">10.1016/s0887-8994(00)00232-0</a>
Sleep disorders in children with neurologic diseases
Child; Humans; Preschool; Q3 Literature Search; Nervous System Diseases/complications; Diagnosis; Differential; Anticonvulsants/therapeutic use; Sleep Disorders/etiology; Blindness/complications; Epilepsy/complications; Headache/complications; Melatonin/therapeutic use; Mental Retardation/complications; Muscular Dystrophies/complications
Pediatric neurologic diseases are often associated with different kinds of sleep disruption (mainly insomnia, less frequently hypersomnia or parasomnias). Due to the key-role of sleep for development, the effort to ameliorate sleep patterns in these children could have important prognostic benefits. Study of sleep architecture and organization in neurologic disorders could lead to a better comprehension of the pathogenesis and a better treatment of the disorders. This article focuses on the following specific neurologic diseases: nocturnal frontal lobe epilepsy and abnormal motor behaviors of epileptic origin, evaluating differential diagnosis with parasomnias; achondroplasia, confirming the crucial role of craniofacial deformity in determining sleep-disordered breathing; neuromuscular diseases, mainly Duchenne's muscular dystrophy and myotonic dystrophy; cerebral palsy, evaluating either the features of sleep architecture and the importance of the respiratory problems associated; headaches, confirming the strict relationships with sleep in terms of neurochemical and neurobehavioral substrates; and finally a review on the effectiveness of melatonin for sleep problems in children with neurologic syndromes and mental retardation, blindness, and epilepsy.
2001
Zucconi M; Bruni O
Seminars In Pediatric Neurology
2001
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Journal Article
<a href="http://doi.org/10.1053/spen.2001.29477" target="_blank" rel="noreferrer">10.1053/spen.2001.29477</a>
Practice parameter: screening and diagnosis of autism: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society
Child; Humans; Risk Assessment; Predictive Value of Tests; Nervous System; Preschool; Non-U.S. Gov't; P.H.S.; Research Support; U.S. Gov't; infant; Diagnosis; Differential; Neuropsychological Tests; Disease Management; Developmental Disabilities/diagnosis; Electrophysiology; Asperger Syndrome/diagnosis; Autistic Disorder/diagnosis/genetics; Childhood/diagnosis; Lead Poisoning; Mass Screening/methods/standards
Autism is a common disorder of childhood, affecting 1 in 500 children. Yet, it often remains unrecognized and undiagnosed until or after late preschool age because appropriate tools for routine developmental screening and screening specifically for autism have not been available. Early identification of children with autism and intensive, early intervention during the toddler and preschool years improves outcome for most young children with autism. This practice parameter reviews the available empirical evidence and gives specific recommendations for the identification of children with autism. This approach requires a dual process: 1) routine developmental surveillance and screening specifically for autism to be performed on all children to first identify those at risk for any type of atypical development, and to identify those specifically at risk for autism; and 2) to diagnose and evaluate autism, to differentiate autism from other developmental disorders.
2000
Filipek PA; Accardo PJ; Ashwal S; Baranek GT; Cook EH; Dawson G; Gordon B; Gravel JS; Johnson CP; Kallen RJ; Levy SE; Minshew NJ; Ozonoff S; Prizant BM; Rapin I; Rogers SJ; Stone WL; Teplin SW; Tuchman RF; Volkmar FR
Neurology
2000
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Journal Article
<a href="http://doi.org/10.1212/wnl.55.4.468" target="_blank" rel="noreferrer">10.1212/wnl.55.4.468</a>
Neuromuscular disorders of childhood
Child; Diagnosis; Differential; Human; Neuromuscular Diseases/diagnosis/physiopathology/therapy; Charcot-Marie-Tooth Disease/diagnosis/physiopathology; Muscular Dystrophies/diagnosis/genetics; Myasthenia Gravis/diagnosis; Peripheral Nervous System Diseases/diagnosis; Spinal Muscular Atrophies of Childhood/diagnosis
Neuromuscular disorders are common causes of weakness and hypotonia in the infantile period and in childhood. Accurate diagnosis of specific neuromuscular disorders depends first on identification of which aspect of the peripheral neuromuscular system is affected--the motor neuron in the spinal cord, the nerve root or peripheral nerve, the neuromuscular junction, or the muscle--and then on the determination of the etiology and specific clinical entity. This review provides an overview of the major neuromuscular disorders of childhood with attention to recent advances and emerging areas of research.
1999
Andersson PB; Rando TA
Current Opinion In Pediatrics
1999
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Journal Article
Cerebral palsy and neurodegenerative disease
Child; Disease Progression; Diagnosis; Differential; Human; Cerebral Palsy/diagnosis; Mitochondrial Myopathies/diagnosis; Neurodegenerative Diseases/diagnosis
Cerebral palsy refers to a neurologic disorder of motor skills that is static in nature and is the result of injury to the brain before its development is complete. Many neurodegenerative or metabolic disorders have a slow rate of progression and can be misdiagnosed as cerebral palsy. Diseases that have been misdiagnosed as cerebral palsy are presented here to provide the clinician with framework for the complex evaluation of these patients.
1999
Bass N
Current Opinion In Pediatrics
1999
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Journal Article
An update on the leukodsytrophies
Child; Adult; P.H.S.; U.S. Gov't; Brain Diseases; Diagnosis; Differential; Human; Metabolic; Support; Diseases/diagnosis/genetics; Glial Fibrillary Acidic Protein/genetics; Hereditary Central Nervous System Demyelinating; Inborn/diagnosis/genetics; Myelin Proteolipid Protein/genetics
This review centers on important recent advances in the understanding of the role of glial fibrillary acidic protein in Alexander disease and of proteolipid protein in hypomyelinating disorders such as Pelizaeus-Merzbacher and spastic paraplegia. We also describe seven novel leukodystrophies. These include childhood ataxia with central nervous system hypomyelination, a relatively common leukodystrophy syndrome with linkage to chromosome 3 in some patients, and megalencephalic leukoencephalopathy with subcortical cysts whose gene has recently been cloned. These, along with five other disorders, including leukodystrophy with polyol metabolism abnormality, demonstrate that an increasing number of protein and metabolic abnormalities can cause primary myelin disorders.
2001
Schiffmann R; Boespflug-Tanguy O
Current Opinion In Neurology
2001
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Journal Article