Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Report of a new case
| Autor: | S. Mercimek-Mahmutoglu, S. Stoeckler-Ipsiroglu, Ivo Barić, M.S. van der Knaap, Daniela Prayer |
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| Přispěvatelé: | Pediatric surgery |
| Jazyk: | angličtina |
| Rok vydání: | 2005 |
| Předmět: |
Cerebellum
Movement disorders Central nervous system Basal Ganglia Atrophy Ocular Motility Disorders Basal ganglia medicine Humans Spasticity Dystonia business.industry Hypomyelination atrophy basal ganglia cerebellum Infant General Medicine Anatomy Syndrome medicine.disease medicine.anatomical_structure Pediatrics Perinatology and Child Health Female Neurology (clinical) medicine.symptom Differential diagnosis business Demyelinating Diseases |
| Zdroj: | Mercimek-Mahmutoglu, S, Van Der Knaap, M S, Baric, I, Prayer, D & Stoeckler-Ipsiroglu, S 2005, ' Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Report of a new case ', Neuropediatrics, vol. 36, no. 3, pp. 223-226 . https://doi.org/10.1055/s-2005-865715 Neuropediatrics, 36(3), 223-226. Hippokrates Verlag GmbH |
| ISSN: | 0174-304X |
| DOI: | 10.1055/s-2005-865715 |
| Popis: | Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) syndrome is a new neurodegenerative entity, which was first described by van der Knaap in 2002 in 7 patients aged from 2 months to 2 years. We describe a new, 42-month-old female patient who developed progressive dystonia, spasticity and oculogyric eye movements since the age of 3 months. The diagnosis was made by characteristic MRI findings including supratentorial hypomyelination and progressive atrophy of basal ganglia and cerebellum. Oculogyric eye movements have not been described in patients with H-ABC syndrome before. When compared with the normal age-related myelination patterns, the degree of hypomyelination increased progressively over the time course of 32 months, indicating arrest but not loss of myelination. The H-ABC syndrome adds to the differential diagnosis of progressive pyramidal and extrapyramidal movement disorders and to the increasing number of genetically determined hypomyelination syndromes. |
| Databáze: | OpenAIRE |
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