Browse Items · Pediatric Palliative Care Library

A follow up study of myocardial involvement in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)

OBJECTIVE: To investigate cardiac function in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) and clarify the clinical features of cardiomyopathy in MELAS. PATIENTS: 11 consecutive patients with MELAS…

A re-analysis of the reliability of psychiatric diagnosis

A scale to monitor progression and treatment of mitochondrial disease in children.

Mitochondrial diseases affect all age groups, but those with childhood onset often seem to experience the greatest burden of disability. In some paediatric patients this can be explained by a cumulative disability acquired over many years. In others,…

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…

Adrenoleukodystrophy.

1999

Tags: 1999, Backlog, Coves OFJ, Journal Article, Medicina Intensiva, Q3 Scoping Review Results, Tabernero TC

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

An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient

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…

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.…

Behaviour in mucopolysaccharide disorders

This paper reports a study of the nature and prevalence of behaviour problems in 258 children with mucopolysaccharide disorders. Questionnaire data obtained through the post was supplemented by home visits to 42 families in the sample and by regular…

Caregivers' perceptions following gastrostomy in severely disabled children with feeding problems

Feeding difficulties are common in neurologically impaired children, often leading to great distress and frustration in the child and family. A gastrostomy may be advocated if oral intake is inadequate causing poor weight gain or when there is…

Central hypothermia as a cause of acute pancreatitis in children with neurodevelopmental impairment

Children with severe neurodevelopmental impairment are at risk for recurrent hypothermia, defined as a temperature of less than 35 degrees C, as a result of hypothalamic dysfunction. Acute pancreatitis following hypothermia from environmental…

Chronic constipation and fecal incontinence in children with neurological and neuromuscular handicap

1997

Tags: 1997, Backlog, Child, Chronic Disease, Constipation/complications/therapy, Di Lorenzo C, Disabled Persons, Fecal Incontinence/complications/therapy, Humans, Journal Article, Journal Of Pediatric Gastroenterology And Nutrition, Nervous System Diseases/complications, Neuromuscular Diseases/complications, Q3 Scoping Review Results

Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands

Mucopolysaccharidosis IIIC (MPS IIIC, Sanfilippo C syndrome) is a lysosomal storage disorder caused by deficiency of the lysosomal enzyme acetyl-CoA:alpha-glucosaminide N-acetyltransferase (HGSNAT). We performed a clinical study on 29 Dutch MPS IIIC…

Clinical and neuroradiological follow-up in mucopolysaccharidosis type III (Sanfilippo syndrome)

Mucopolysaccharidosis type III (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with mental retardation, behavioural problems and seizures. Three patients, of 20 months to 12 years of…

Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients

Late-onset Pompe's disease (acid maltase deficiency, glycogen storage disease type II) is a slowly progressive myopathy caused by deficiency of acid alpha-glucosidase. Current developments in enzyme replacement therapy require detailed knowledge of…

Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey

BACKGROUND: Fabry disease is a rare X-linked disorder caused by deficient activity of the enzyme alpha-galactosidase A. This produces progressive lysosomal accumulation of globotriaosylceramide throughout the body, leading to organ failure and…

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…

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…

Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype

AIMS: To delineate common and variable features and outcome of children with congenital disorder of glycosylation type Ia (CDG-Ia) caused by the frequent R141H/F119L PMM2 genotype. METHODS: Clinical data on 25 patients (mean age 7.6 years, range…

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…

Coping with Dravet syndrome: parental experiences with a catastrophic epilepsy

The aim of this study was to investigate how parents cope with and care for a child with Dravet syndrome, a severe myoclonic epilepsy with three distinct stages. Twenty-four parents of children with Dravet syndrome participated in a semi-structured…

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.…

Course of disability and respiratory function in untreated late-onset Pompe disease

Fifty-two untreated patients with late-onset Pompe disease completed questionnaires about their clinical condition and level of handicap at baseline and at 1-year (n = 41) and 2-year follow-ups (n = 40). During this period, declines in functional…

Disease severity in children and adults with Pompe disease related to age and disease duration

Information about 255 children and adults with Pompe disease was gathered through a questionnaire. Disease severity was associated with disease duration and not with age; an early manifestation of the disease implied earlier wheelchair or ventilator…

Disorders of movement in Leigh syndrome

Leigh syndrome (LS) is the clinical prototype of a genetically-determined mitochondrial encephalopathy. Twenty-two of 34 patients with LS had evidence of a movement disorder (MD). Dystonia, the most common MD, was present in 19 cases, rigidity in 4,…

Electrogastrography in gastrostomy-tube-fed children

Following gastrostomy tube placement some children develop gagging, retching, vomiting, pain, or irritability during feedings. Conventional medical management is not always successful. It is possible that intolerance of gastrostomy tube feedings…

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

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

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

Impairment of the melatonin rhythm in children with Sanfilippo syndrome

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…

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…

Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients

To describe the clinical and neurophysiological spectrum and prognosis in a large cohort of biochemically and genetically proven late onset Pompe patients. Thirty-eight diagnosed with late onset Pompe disease at our neuromuscular department during…

Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency

Neurologic disease in glutaryl-CoA dehydrogenase (GCDH) deficiency usually presents with acute encephalopathic crises before 2 years of age. The authors report two previously asymptomatic patients with macrocephaly presenting with progressive…

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…

Links between abnormal brain structure and cognition in holoprosencephaly

Converging information on medical issues, motor ability, and cognitive outcomes is essential when addressing long-term clinical management in children with holoprosencephaly. This study considered whether adding more informative structural indices to…

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…

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…

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…

Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases

OBJECTIVES: We sought to determine the clinical spectrum, survival, and long-term functional outcome of a cohort of pediatric patients with mitochondrial diseases and to identify prognostic factors. METHODS: Medical charts were reviewed for 73…

Tags: 2007, AIM, Backlog, Cause Of Death, Chevalier I, Child, Cohort Studies, Debray FG, Decarie JC, DNA, DNA Fragmentation, Female, Follow-up Studies, HEREDITARY, Humans, IM, Infant, Journal Article, Lambert M, Leber/di [Diagnosis], Leber/ge [Genetics], Leber/mo [Mortality], Longitudinal Studies, Male, MELAS Syndrome/di [Diagnosis], MELAS Syndrome/mo [Mortality], MELAS Syndrome/th [Therapy], Mitchell GA, Mitochondrial Diseases/di [Diagnosis], Mitochondrial Diseases/ge [Genetics], Mitochondrial Diseases/mo [Mortality], Mitochondrial Encephalomyopathies/di [Diagnosis], Mitochondrial Encephalomyopathies/mo [Mortality], Mitochondrial Encephalomyopathies/th [therapy], Mitochondrial Myopathies/di [Diagnosis], Mitochondrial Myopathies/ge [Genetics], Mitochondrial Myopathies/mo [Mortality], Mitochondrial/ge [Genetics], Newborn, Optic Atrophy, Pediatrics, Preschool, Probability, Proportional Hazards Models, Q3 Scoping Review Results, Retrospective Studies, Robinson BH, Robitaille Y, Severity Of Illness Index, Shoubridge EA, Survival Analysis, Time Factors

Browse Items (99 total)