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Article
Dermoïdcyste op het hoofd; denk aan cerebrale uitbreiding
General symptoms like fever, vomiting and feedingproblems may have an unexpected cause. This case report illustrates that a patient with these symptoms after one and a half year was diagnosed as having a cereb...
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Article
A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)
An overview is given of the current knowledge on the human tyrosine hydroxylase gene and on the biochemical aspects of diagnosing defects in this gene. Diagnostic biochemical findings are described in four cas...
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Article
A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia
Ataxia telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectasia, immunodeficiency, elevated α-fetoprotein levels, chromosomal instability, predisposition to ca...
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Article
Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations
Charcot-Marie-Tooth disease type 1A (CMT1A) or hereditary motor and sensory neuropathy type Ia (HMSN type Ia) is an autosomal dominant demyelinating polyneuropathy, which may result from duplications as large ...
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Article
Congenital muscular dystrophy and severe central nervous system atrophy in two siblings
Severe degenerative features of the nervous system of a hitherto unknown kind, associated with a neuromuscular disorder with histopathological features of congenital muscular dystrophy, are reported in two fem...
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Article
Peripheral nerve elongation by laser Doppler flowmetry controlled expansion: morphological aspects
Peripheral nerve elongation by a tissue expander may offer an alternative to nerve grafting in the management of segmental nerve loss. We investigated the morphological changes in peripheral nerve following sl...
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Article
Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies
Hereditary neuropathy with liability to pressure palsies (HNPP) is a disorder of the peripheral nervous system, the cause of which has recently been identified as a deletion on chromosome 17p. The deletion cor...
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Article
Chronic inflammatory demyelinating polyneuropathy or hereditary motor and sensory neuropathy?
The pathological changes generally considered to distinguish chronic inflammatory demyelinating polyneuropathy (CIDP) from hereditary motor and sensory neuropathy (HMSN) are: mononuclear cell infiltrates, prom...
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Article
The relation between neurological trauma parameters and long-term outcome in children with closed head injury
In a study of 54 children with closed head injury, the relation between neurological severity indicators and the occurrence of long-term sequelae was investigated. Patient data were recorded during the clinica...
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Article
Congenital muscular dystrophy
Histomorphological and histochemical variability was studied in muscle specimens from 30 patients with congenital muscular dystrophy (CMD). We found involvement of the central nervous system in 8 patients (Fuk...
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Article
Cerebrospinal fluid amino acids, purines and pyrimidines as a tool in the study of metabolic brain diseases
After establishing more extended reference values for amino acids, purines and pyrimidines in cerebrospinal fluid (CSF) in infancy and childhood, we studied 1250 CSF-aliquots from patients who were undergoing ...
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Article
Neuropathological findings in muscle-eye-brain disease (MEB-D)
Congenital muscular dystrophy (CMD) associated with cerebro-ocular dysplasia named muscle-eye-brain disease (MEB-D) is described in two sisters. Progressive hypotonia, mental retardation and severe visual fail...
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Article
Polyglucosan bodies in sural nerve biopsies
The presence of polyglucosan bodies in sural nerves collected over a 16-year period was studied in relation to age, sex, presence of polyneuropathy, and concomitant presence of central nervous system disorder....
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Article
Polyglucosan bodies in intramuscular motor nerves
The presence of polyglucosan bodies was studied in intramuscular motor nerves of 292 muscle biopsies. These biopsies were classified into five diagnostic categories and investigated for the presence of polyglu...
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Article
Effect of thymectomy on myasthenia gravis and autoimmune thrombocytopenic purpura in a 13-year-old girl
We report the association of myasthenia gravis (MG) and autoimmune thrombocytopenic purpura (AITP) in a 13-year-old girl. The co-existence of these autoimmune diseases is rare in adults and, to our knowledge, ...
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Article
Familial Leigh's syndrome: association with a defect in oxidative metabolism probably restricted to brain
Four siblings with Leigh's syndrome are described. The diagnosis was confirmed by pathological examination in one case. Chemical and biochemical investigations of serum and urine revealed no abnormalities of p...
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Effect of Thymectomy on Myasthenia Gravis and Autoimmune Thrombocytopenic Purpura in a 13-Year-Old Girl
We report the association of myasthenia gravis (MG) and autoimmune thrombocytopenic purpura (AITP) in a 13-year-old girl. The co-existence of these autoimmune diseases is rare in adults and, to our knowledge, ...
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Chapter
Clinical and Metabolic Aspects of Leigh Syndrome
Since the first description by Leigh (10) of the neuropathological findings in a 7-month-old boy, who died after a 6-week illness, during which a spastic tetraparesis, blindness, deafness and a severe disturba...
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Chapter
Lafora Disease: Diagnosis and Carrier Detection
Lafora disease is a familial degenerative disorder of unknown etiology. It accounts for a small proportion of cases of myoclonus epilepsy with onset in the late first or early second decade. The main clinical ...
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Chapter
Blood and CSF Concentration of Fuel Related Components in Children After Prolonged Fasting
Metabolic encephalopathy can be the consequence of alterations in the cerebral energy metabolism (12). Generally, brains have very low energy reserves in combination with one of the highest metabolic rates of ...
