Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)
Diagnosis probable
Presentation
The patient presented with spasticity, hypotonia and seizures.
Patient Data
Age: 6 months
Gender: Male
{"current_user":null,"step_through_annotations":true,"access":{"can_edit":false,"can_download":true,"can_toggle_annotations":true,"can_feature":false,"can_examine_pipeline_reports":false,"can_pin":false},"extraPropsURL":"/studies/114763/annotated_viewer_json?lang=us"}
Evidence of diffuse supratentorial hypomyelination with diffuse thinning of the corpus callosum.
Marked atrophy of the bilateral putamina.
Normal-sized thalami.
Significantly atrophic bilateral caudate nuclei.
Marked cerebellar atrophy.
Case Discussion
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare neurodegenerative hypomyelinating disease of infancy and childhood.
H-ABC results from de novo (i.e. not inherited) autosomal dominant mutations of TUBB4A, a gene which encodes the protein tubulin β-4A. The latter is a member of the tubulin superfamily of proteins that polymerize into microtubules.
Unable to process the form. Check for errors and try again.