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Abstract Details

A case of TUBB4A-related hypomyelinating leukodystrophy with abnormal movements responsive to levodopa/carbidopa
Movement Disorders
Movement Disorders Posters (7:00 AM-5:00 PM)
003

N/A

First described in 2002, hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum (H-ABC) syndrome is a rare, sporadic childhood neurodegenerative disorder that has been attributed to de novo mutations in the CNS neuronal protein TUBB4A, which likely mediates tubulin dimerization and microtubular stability. Few cases have been described, but clinical features have included developmental delay, extrapyramidal symptoms, ataxia, cognitive deficits, and seizures. In one study of 42 H-ABC patients, nearly all had extrapyramidal symptoms such as dystonia, rigidity, and choreoathetosis and significant or complete atrophy of the putamen and caudate. Despite the frequency of basal ganglia involvement in H-ABC, successful treatment with dopaminergic agents has been previously described in only a few cases.
Here we describe a 21-year-old male with H-ABC due to TUBB4A mutation who presented with worsening head movements, increased falls, and decreased speech output. The patient had childhood motor and language delay followed by regression with increased falls and slowing and slurring of his speech. At presentation he had frequent dystonic neck movements and choreoathetoid movements of both hands (both constant while the patient was awake), severely reduced speech output, and severe bilateral foot dystonia with contractures. His medications at presentation were baclofen and laxatives for chronic constipation. MRI obtained four years prior to presentation showed diffuse white matter T2 hyperintensity with associated volume loss and cerebellar atrophy (repeat MRI was not performed). Given his profound dystonia and abnormal movements localizing to the basal ganglia, the patient was started on peroral levodopa/carbidopa (300/75 mg per day). 
The patient was noted to have near total cessation of his neck dystonia and hand choreoathetosis within one day of starting levodopa/carbidopa, with subsequent fluctuating recurrence of his symptoms. 
These observations suggest that levodopa/carbidopa may be a therapeutic option for H-ABC patients presenting with extrapyramidal symptoms.
Authors/Disclosures
Adrienne Visani
PRESENTER 		Ms. Visani has nothing to disclose.
Saumel B. Ahmadi, MD, PhD (St. Louis Children's Hospital) Dr. Ahmadi has received intellectual property interests from a discovery or technology relating to health care. Dr. Ahmadi has received intellectual property interests from a discovery or technology relating to health care.
Martin Mwangi, MD Dr. Mwangi has nothing to disclose.