Browse Items · Pediatric Palliative Care Library

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…

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…

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…

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…

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…

Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation

The characteristic clinical presentation, especially the appearance of muscle symptoms, is quite unique in children carrying the mtA8344G mutation. The diagnosis of MERRF syndrome is seldom made in the pediatric age. Fatigue is a common finding in…

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…

Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations

Mutations in the SURF1 gene are the most frequent causes of Leigh disease with cytochrome c oxidase deficiency. We describe four children with novel SURF1 mutations and unusual features: three had prominent renal symptoms and one had ragged red…

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…

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…

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.…

Parental perception of cold extremities and other accompanying symptoms in children with cerebral palsy

Cold extremities have been noted in non-walking children with cerebral damage compared with healthy controls. Whether this is a general problem in children with cerebral palsy (CP) and associated with other symptoms is unknown. This study describes…

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

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

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…

A re-analysis of the reliability of psychiatric diagnosis

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 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

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…

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…

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…

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…

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…

Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study

PURPOSE: To describe the outcome of ophthalmologic examination of 10 Norwegian children with ataxia-telangiectasia (AT) followed through 5 years. METHODS: Ten Norwegian patients with AT aged 2-22 years (three females, seven males) were examined. The…

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…

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…

Neurologically impaired children and digestive problems

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…

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,…

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…

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…

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

BACKGROUND: Niemann-Pick type C disease (NPC) is an inherited neurodegenerative disorder characterised by an intracellular lipid-trafficking defect with secondary accumulation of glycosphingolipids. Miglustat, a small iminosugar, reversibly inhibits…

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 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…

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…

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…

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…

Browse Items (99 total)