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1.
Brain Dev ; 23(6): 385-9, 2001 Oct.
Article in English | MEDLINE | ID: mdl-11578848

ABSTRACT

Sanfillippo B syndrome (mucopolysaccharidosis (MPS) III, type B) is characterized by mild expression of the characteristic 'Hurler' phenotype and a severe central nervous system involvement. We report three patients with Sanfilippo B syndrome, referred to our clinic because of peculiar facies, delay in language development and behavioral problems, at the ages of 4, 3 and 5 years, respectively. At presentation they manifested clinical features of MPS, severe developmental retardation, radiological features of dysostosis mutiplex, as well as neurophysiological findings suggestive of carpal tunnel syndrome and sensorineural hearing impairment. Due to marked urinary excretion of heparan sulfate, as well as deficiency of alpha-N-acetylglucosaminidase in leukocytes, the diagnosis of Sanfilippo B syndrome was made. Serial brain magnetic resonance imaging (MRI) at different ages demonstrated white matter abnormalities, cortical atrophy and ventricular enlargement in all three patients, while other findings included thickening of the diploe in two patients and callosal atrophy, basal ganglia involvement, cerebellar changes and dilatation of venous sinuses in one patient. Although the combination of the above MRI findings is highly suggestive of a MPS, they carry a little predictive value in the different clinical stages of MPS IIIB.


Subject(s)
Mucopolysaccharidosis III/pathology , Aging/physiology , Brain/pathology , Child, Preschool , Female , Humans , Intelligence Tests , Magnetic Resonance Imaging , Male , Mucopolysaccharidosis III/psychology
2.
Pediatr Neurol ; 21(5): 843-6, 1999 Nov.
Article in English | MEDLINE | ID: mdl-10593679

ABSTRACT

We present serial clinical, radiologic, and neurophysiologic findings of a patient with late-infantile metachromatic leukodystrophy who was first admitted at 30 months of age because of gait disturbance. The neurologic findings were consistent with mild spastic diplegia (occasionally with toe walking). Magnetic resonance imaging disclosed diffuse high intensity in the cerebral white matter on T2-weighted images. Nerve conduction velocity studies and evoked-potential studies were markedly abnormal. Assay of arylsulfatase A activity in leukocyte culture disclosed a marked deficiency of the enzyme, confirming the diagnosis of late-infantile metachromatic leukodystrophy. Serial neurophysiologic studies demonstrated a marked decrease of nerve conduction velocities, both motor and sensory, as well as prolongation or disappearance of brainstem auditory-, visual-, and somatosensory-evoked potential latencies. Magnetic resonance imaging studies revealed initially diffuse increased signal intensity of periventricular and subcortical white matter on T2-weighted images, progressing to cortical atrophy with involvement of the arcuate fibers and the cerebellar white matter, correlating with the clinical deterioration (severe spastic tetraplegia with optic atrophy and epilepsy).


Subject(s)
Evoked Potentials/physiology , Leukodystrophy, Metachromatic/diagnosis , Neural Conduction/physiology , Bone Marrow Transplantation , Child, Preschool , Female , Humans , Leukodystrophy, Metachromatic/physiopathology , Leukodystrophy, Metachromatic/therapy , Magnetic Resonance Imaging
5.
Brain Dev ; 19(5): 323-5, 1997 Jul.
Article in English | MEDLINE | ID: mdl-9253484

ABSTRACT

To establish the efficacy of intravenous immunoglobulins (IVIG) in the treatment of acute Guillain-Barré syndrome (GBS), we treated nine consecutive pediatric cases (age 2.5-13.5 years) fulfilling the criteria for GBS with a single dose of IVIG (Sandoglobulin; 2 g/kg/BW). None of the patients experienced any IVIG related side-effects. The mean time required to improve by at least one grade on the functional GBS scale after IVIG treatment was 3.5 days, while the mean period to regain ambulation was 11.2 days. Full mobilization without evidence of relapse in the follow-up period (mean 14.5 months) was noted in all but one patient who relapsed after 5 months. We conclude that the early use of a single IVIG dose may prevent further progression of the disease, thus shortening the clinical course of childhood GBS. The most beneficial IVIG dose regimen remains to be determined by controlled trials.


Subject(s)
Immunoglobulins, Intravenous/administration & dosage , Polyradiculoneuropathy/therapy , Adolescent , Child , Child, Preschool , Disease Progression , Dose-Response Relationship, Drug , Female , Humans , Male
6.
Pediatr Neurol ; 15(3): 240-4, 1996 Oct.
Article in English | MEDLINE | ID: mdl-8916164

ABSTRACT

We report serial clinical, radiological, and neurophysiological findings of a patient with late-infantile Krabbe disease. At age 13 months, the patient was hospitalized for sudden stiffness and irritability and a diagnosis of spastic diplegia was made. At age 24 months, he was readmitted because of further psychomotor deterioration; neurologically, he manifested severe spastic tetraplegia with optic atrophy. MRI disclosed diffuse high intensity in the cerebral white matter on T2-weighted images. Nerve conduction velocity and evoked potential studies were markedly abnormal, as were the EEG and the EMG. Assay of galactocerebroside beta-galactosidase activity in leukocyte culture disclosed a marked deficiency of the enzyme, confirmatory of the diagnosis of late-infantile Krabbe disease. Serial MRI and neurophysiological studies performed every 6 months for 18 months demonstrated the progressive nature of the disorder, correlating with the clinical deterioration.


Subject(s)
Brain/pathology , Leukodystrophy, Globoid Cell/diagnosis , Cells, Cultured , Electroencephalography , Electromyography , Evoked Potentials, Motor , Galactosylceramidase/isolation & purification , Humans , Infant , Leukodystrophy, Globoid Cell/diagnostic imaging , Leukodystrophy, Globoid Cell/enzymology , Magnetic Resonance Imaging , Male , Neural Conduction , Psychomotor Disorders/etiology , Radiography
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