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Neurologic course of congenital disorders of glycosylation

Congenital disorders of glycosylation, formerly called carbohydrate-deficient glycoprotein syndrome, may present in infancy with slowly progressive neurologic deficits including cognitive impairment, ataxia, pigmentary retinal degeneration, and…

Sleep-disordered breathing and respiratory failure in acid maltase deficiency

BACKGROUND: Sleep-disordered breathing (SDB) and respiratory failure (RF) are complications of acid maltase deficiency (AMD), a rare hereditary myopathy. OBJECTIVE: To define the relationship between lung and respiratory muscle function, to establish…

Seizures in children with congenital hydrocephalus: long-term outcome

We documented seizures in 33 of 68 (48.5%) children with congenital hydrocephalus not associated with myelomeningocele. Mental retardation (MR) and CNS malformations correlated with seizure occurrence; age at shunt insertion and number of shunt…

Tags: 1992, Analysis of Variance, Backlog, Blake JN, Child, Epilepsy/etiology/physiopathology, Follow-up Studies, Humans, Hydrocephalus/complications/physiopathology, Infant, Journal Article, Neurology, Noetzel MJ, Preschool, Prognosis, Q3 Scoping Review Results, Recurrence, Regression Analysis

Neurologic presentations of mitochondrial disorders

This article describes the neurologic presentations of children with mitochondrial disorders. The charts of 42 children with highly suspect mitochondrial disorders were reviewed. Thirty-seven children were diagnosed as having definite mitochondrial…

Sleep and neuromuscular disease: bilevel positive airway pressure by nasal mask as a treatment for sleep disordered breathing in patients with neuromuscular disease

OBJECTIVE: Investigation of the therapeutic effects of bilevel positive airway pressure delivered by nasal mask in patients with neuromuscular disease. METHODS: 20 patients with neuromuscular disease were evaluated for symptoms of nocturnal sleep…

Mitochondrial encephalomyopathy: variable clinical expression within a single kindred

The clinical manifestations of mitochondrial encephalomyopathy are described in four generations of a single kindred. The age of onset of major neurological disturbance varied from 3-70 years. In some patients, deafness was the only manifestation; in…

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…

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…

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…

Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency

Medium chain acyl coenzyme A dehydrogenase (MCAD) deficiency presents with episodic fasting, hypoketotic hypoglycaemia, and coma. It is known to be potentially lethal, but the outlook for survivors is thought to be good. We reassessed all patients…

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…

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…

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

Mitochondrial neurogastrointestinal encephalomyopathy: diagnosis by rectal biopsy

A 14-year-old girl with the mitochondrial neurogastrointestinal encephalopathy syndrome had an 8-year history of intestinal pseudoobstruction with abdominal pain, persistent vomiting, gastric and duodenal dilatation, and duodenal diverticulosis. The…

The natural history of degenerative ataxia: a retrospective study in 466 patients

The aim of the present study was (i) to compare disease progression and survival in different types of degenerative ataxia, and (ii) to identify variables that may modify the rate of disease progression. We included patients suffering from…

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,…

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…

Adrenoleukodystrophy.

1999

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

Sleep disorders in children with neurologic diseases

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…

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

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…

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…

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…

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

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…

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…

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…

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…

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…

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…

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…

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

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…

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…

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