Browse Items · Pediatric Palliative Care Library

Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients

The peroxisome biogenesis disorders (PBDs) with generalized peroxisomal dysfunction include Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD). There is clinical, biochemical, and genetic overlap among…

Type I glutaric aciduria, part 1: natural history of 77 patients

Type I glutaric aciduria (GA1) results from mitochondrial matrix flavoprotein glutaryl-CoA dehydrogenase deficiency and is a cause of acute striatal necrosis in infancy. We present detailed clinical, neuroradiologic, molecular, biochemical, and…

Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes

In this paper, we provide a brief update of diagnostic considerations and biochemical phenotype in L-amino acid decarboxylase deficiency. We review clinical features and outcome data in 11 affected patients, including 7 previously unreported cases.…

Clinical phenotype, prognosis and mitochondrial DNA mutation load in mitochondrial encephalomyopathies

We studied 42 individuals, including 8 patients with either complete or partial syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), 8 patients with either complete or partial syndrome of myoclonic…

Leigh's syndrome

A 15-month-old female child presented with sudden onset cough and hyperventilation along with evidence of metabolic acidosis. She had past history of recurrent vomiting, episodes of abnormal posturing, difficulty in deglutition and regression of…

Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1

All 28 patients, 13 females and 15 males, with glutaric aciduria type 1 diagnosed between 1975 and 2001 in Denmark, Finland, Norway and Sweden were identified and studied retrospectively until 2001. Mass screening was not performed. Three were…

Unilateral closed-lip schizencephaly and epilepsy: a comparison with cases of unilateral polymicrogyria

We compared the electroclinical features and evolution of patients with two different types of abnormal cortical organization: unilateral closed-lip schizencephaly (SCHZ) and unilateral polymicrogyria (PMG). Between February 1990 and June 2002, 51…

Clinical validation of the paediatric pain profile

The Paediatric Pain Profile (PPP) is a 20-item behaviour rating scale designed to assess pain in children with severe neurological disability. We assessed the validity and reliability of the scale in 140 children (76 females, mean age 9 years 11…

Evidence based medicine

2004

Tags: 2004, Adaptation, Backlog, Baxter P, Capital Financing/economics, Cerebral Palsy/therapy, Child, Developmental Medicine and Child Neurology, Epilepsy/drug therapy, Evidence-based Medicine, Gastrostomy/utilization, Health Personnel, Home Care Services/organization & administration, Humans, Journal Article, Melatonin/physiology, Muscular Dystrophies, Psychological, Q3 Scoping Review Results

Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhood

We report two siblings with a mitochondrial respiratory chain defect who presented with progressive bulbar paralysis of childhood (Fazio-Londe disease). Mitochondrial respiratory chain defects should be considered in differential diagnosis of this…

Neurological presentation in pediatric patients with congenital disorders of glycosylation type Ia

OBJECTIVE: Congenital disorders of glycosylation (CDG), formerly called carbohydrate-deficient glycoprotein syndromes, constitute a newly identified group of multisystem disorders characterized by defective glycosylation of N-glycosylated proteins.…

An approach to the diagnosis of metabolic diseases

Inborn metabolic errors, which are not common, may have significant implications for patients. Those patients with such errors who have acute life-threatening symptoms must be treated immediately, and specimens for analysis should be obtained and…

Tags: 2004, Backlog, Barness LA, Child, Fetal And Pediatric Pathology, Humans, Inborn Errors/diagnosis/genetics/metabolism, Infant, Journal Article, Laboratory Techniques and Procedures, Metabolism, Newborn, Q3 Scoping Review Results

Melatonin treatment for sleep disorders in children with neurodevelopmental disorders: an observational study

The study aim was to quantify melatonin-associated improvement in sleep by means of a parent-completed sleep diary during routine outpatient activity. An investigation into sleep disturbance was made at neurology outpatient appointments. Those…

The clinical spectrum of mitochondrial disease in 75 pediatric patients

The clinical presentation of mitochondrial disorders in childhood is highly variable causing difficulties in diagnosis and management. We assessed records of 75 children (48 male, 27 female) with a biochemically and/or molecularly established…

Sleep disorders in Sanfilippo syndrome: a polygraphic study

OBJECTIVE: A high prevalence of sleep disorders is reported in patients affected by Mucopolysaccharidosis III (Sanfilippo syndrome). These disorders have never been investigated by prolonged, objective, and instrumental evaluations. The present work…

Neuroanatomy of holoprosencephaly as predictor of function: beyond the face predicting the brain

BACKGROUND: Despite advances in neuroimaging and molecular genetics of holoprosencephaly (HPE), the clinical spectrum of HPE has remained inadequately described. OBJECTIVE: To better characterize the clinical features of HPE and identify specific…

The natural history of type B Niemann-Pick disease: Results from a 10-year longitudinal study.

OBJECTIVES: Type B Niemann-Pick disease (NPD-B) caused by acid sphingomyelinase deficiency is a rare, autosomal recessive, lysosomal storage disorder with a broad range of disease severity. The objectives of this study were to document the natural…

Corneal surface irregularities and episodic pain in a patient with mucolipidosis IV

Mucolipidosis IV is a lysosomal storage disease characterized by prominent involvement of the corneal epithelium. A 5-year-old boy with mucolipidosis IV experienced recurrent episodes of severe ocular pain, tearing, and ipsilateral facial flushing.…

Congenital malformations of the central nervous system in a 1-year birth cohort followed to the age of 14 years

A 1-year birth cohort from northern Finland comprised 12,058 children, 96% of all live-born infants born in the region in 1966. The development and morbidity of these children were followed up to the age of 14 years. Altogether, 40 children (25 boys…

High agreement but low kappa: II. Resolving the paradoxes

An omnibus index offers a single summary expression for a fourfold table of binary concordance among two observers. Among the available other omnibus indexes, none offers a satisfactory solution for the paradoxes that occur with p0 and kappa. The…

Tags: 1990, Backlog, Cicchetti DV, Feinstein AR, Journal Article, Journal Of Clinical Epidemiology, Observer Variation, Q3 Scoping Review Results, Sensitivity and Specificity, Statistics as Topic

Observations on Huntington's Chorea in Childhood

Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome

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…

Infantile type of sialic acid storage disease with sialuria

We describe a male infant of Austrian ancestry, the main clinical features including attacks of dyspnea due to laryngomalacia, severe mental and motor retardation, pronounced splenohepatomegaly and vacuolisation of peripheral lymphocytes. The…

A re-analysis of the reliability of psychiatric diagnosis

Myopathy with mitochondrial changes presenting as respiratory failure in two brothers

Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS): clinical, radiological, pathological, and genetic observations

We reviewed 10 patients (5 males, 5 females) with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. The age of symptom onset ranged from 3 months to 12 years. All had lactic acidosis, multiple stroke-like events with…

Acute onset of X-linked adrenoleukodystrophy mimicking encephalitis

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…

Severe periodic febrile myalgia in infancy due to carnitine palmitoyltransferase deficiency

A 7 1/2-yr-old girl suffered, since early infancy, severe recurrent myalgia during periodic attacks of fever, vomiting and pharyngitis. Neither myoglobinuria nor exercise-induced muscle pain was present. She was found to have carnitine…

Tags: 1992, Backlog, Carnitine O-Palmitoyltransferase/deficiency/metabolism, Child, Female, Fever/enzymology/etiology, Humans, Journal Article, Lahat E, Muscular Diseases/enzymology/etiology, Neuromuscular Disorders, Periodicity, Q3 Scoping Review Results, Schechter A, Schiffmann R

Sleep features in Tourette's syndrome, neuroacanthocytosis and Huntington's chorea

Twenty-one patients affected by extrapyramidal disorders were polygraphically recorded during spontaneous nocturnal sleep for two consecutive nights to assess their sleep and movement patterns. The patients (pts) sample included: Gilles de La…

Use of colonic manometry to differentiate causes of intractable constipation in children

We evaluated colon manometry as a means of differentiating causes of intractable constipation in children. We studied pressure changes in the transverse, descending, and rectosigmoid colons of 23 children with intractable constipation. All patients…

Liver involvement in Alpers disease

Alpers disease consists of diffuse cerebral degeneration manifested as developmental delay, seizures, vomiting, and progressive neuromuscular deterioration, with liver disease and death. We report the clinical course of the liver disease, histologic…

Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease

The records of 52 children with Niemann-Pick disease type C were reviewed to establish whether the disease process and outcome varied with the initial clinical pattern; 34 children (65%) had cholestatic liver disease and hepatosplenomegaly in…

Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency

A 3-year-old boy had recurrent episodes of lethargy, encephalopathy, and hepatomegaly accompanied by hypoglycemia, elevated liver aminotransferase and creatine kinase values, and nonketotic dicarboxylic aciduria; the serum carnitine level was…

Neonatal-onset propionic acidemia: neurologic and developmental profiles, and implications for management

OBJECTIVES: To document the clinical and neurodevelopmental profiles of a cohort of patients with neonatal-onset propionic acidemia and to determine the efficacy of current therapy with respect to outcome. METHOD: The clinical, neurologic, and…

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients

Long-chain 3-hydroxyacyl-coenzyme A (CoA) dehydrogenase is one of three enzyme activities of the mitochondrial trifunctional protein. We report the clinical findings of 13 patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. At…

The clinical course of childhood and adolescent adrenoleukodystrophy before and after Lorenzo's oil

The clinical course of Japanese patients with childhood and adolescent adrenoleukodystrophy (ALD) who were treated with Lorenzo's oil after the progression of early symptoms was investigated by Kaplan-Meier analyses. Many of the early symptoms,…

Tags: 2001, Adolescent, Adrenoleukodystrophy/drug therapy/pathology/physiopathology, Backlog, Brain & Development, Child, Disease Progression, Erucic Acids/therapeutic use, Humans, Imamura A, Japan, Journal Article, Kondo N, Male, Q3 Scoping Review Results, Shimozawa N, Suzuki Y, Treatment Outcome

Recurrent pain attacks in a 3-year-old patient with myoclonus epilepsy associated with ragged-red fibers (MERRF): a single-photon emission computed tomographic (SPECT) and electrophysiological study

We reported a 3-year-old girl with myoclonus epilepsy associated with ragged-red fibers (MERRF) who was afflicted with recurrent pain attacks and allodynia on the right side of the body. Although magnetic resonance imaging showed normal intensity in…

Improvement of hypertonus after treatment for sleep disturbances in three patients with severe brain damage

Treatment for sleep disturbance was given to three patients with severe brain damage (a 14-year-old boy, an 8-year-old girl and a 9-year-old boy), and changes in their muscle tone were estimated using F-wave analysis. In all patients, F-wave analysis…

Melatonin for the treatment of handicapped children with severe sleep disorders

Sleep disorders are common in children with mental retardation and neurologic disorders. Melatonin, a recently developed natural compound, has been used successfully in sleep disorders. I report my experience with melatonin in an open, prospective…

Gastrointestinal problems in the neurologically impaired child

Damage to the developing central nervous system may result in significant dysfunction in the gastrointestinal tract and is reflected in impairment in oral-motor function, rumination, gastro-oesophageal reflux, with or without aspiration, delayed…

Tags: 1997, Backlog, Bailliere's Clinical Gastroenterology, Cerebral Palsy/complications, Child, Constipation/etiology, Enteral Nutrition/methods, Gastroesophageal Reflux/etiology/physiopathology/surgery, Gastrointestinal Diseases/etiology/physiopathology, Gastrointestinal Motility, Gastrostomy/adverse effects, Humans, Journal Article, Nervous System Diseases/complications/physiopathology, Nutrition Physiology, Preschool, Q3 Scoping Review Results, Sullivan P

Browse Items (99 total)