Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Report of a new case

Neuropediatrics. 2005 Jun;36(3):223-6. doi: 10.1055/s-2005-865715.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Atrophy / pathology
  • Basal Ganglia / pathology*
  • Cerebellum / pathology*
  • Demyelinating Diseases / pathology*
  • Female
  • Humans
  • Infant
  • Ocular Motility Disorders / etiology
  • Ocular Motility Disorders / pathology
  • Syndrome