Abstract | BACKGROUND AND PURPOSE: MATERIALS AND METHODS: A systematic analysis of patients with unclassified leukoencephalopathies admitted to our institutions revealed 10 children with congenital cataract, slowly progressive neurologic impairment, and diffuse white matter abnormalities on neuroimaging. Psychomotor developmental delay was evident after the first year of life. Peripheral neuropathy was demonstrated by neurophysiologic studies in 9 children. The available neuroimaging studies were retrospectively reviewed. RESULTS: In all patients, neuroimaging revealed diffuse involvement of the supratentorial white matter associated with preservation of both cortical and deep gray matter structures. Supratentorial white matter hypomyelination was detected in all patients; 7 patients also had evidence of variably extensive areas of increased white matter water content. Deep cerebellar white matter hypomyelination was found in 6 patients. Older patients had evidence of white matter bulk loss and gliosis. Proton MR spectroscopy showed variable findings, depending on the stage of the disease. Sural nerve biopsy revealed hypomyelinated nerve fibers. Mutations in the DRCTNNB1A gene on chromosome 7p15.3, causing complete or severe deficiency of hyccin, were demonstrated in all patients. CONCLUSIONS: HCC is characterized by a combined pattern of primary myelin deficiency and secondary neurodegenerative changes. In the proper clinical setting, recognition of suggestive neuroimaging findings should prompt appropriate genetic investigations.
|
Authors | A Rossi, R Biancheri, F Zara, C Bruno, G Uziel, M S van der Knaap, C Minetti, P Tortori-Donati |
Journal | AJNR. American journal of neuroradiology
(AJNR Am J Neuroradiol)
Vol. 29
Issue 2
Pg. 301-5
(Feb 2008)
ISSN: 1936-959X [Electronic] United States |
PMID | 17974614
(Publication Type: Journal Article)
|
Topics |
- Adolescent
- Adult
- Brain
(pathology)
- Cataract
(congenital, diagnosis)
- Child
- Child, Preschool
- Female
- Hereditary Central Nervous System Demyelinating Diseases
(congenital, diagnosis)
- Humans
- Image Enhancement
(methods)
- Magnetic Resonance Imaging
(methods)
- Male
- Nerve Fibers, Myelinated
(pathology)
- Retrospective Studies
- Syndrome
|