Objective: To report the first case in Mexico of a patient with generalized dystonia and self-mutilation of the tongue with clinical and radiological diagnosis of Hypomyelination with atrophy of the basal ganglia and cerebellum.

Background: Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC), is a rare leukoencephalopathy which was first described and identified using magnetic resonance imaging in 2002 by van der Knaap. Recently, mutations in the TUBB4A gene have been found to underlie this disease. TUBB4A mutations also have been described as causative of DYT4 (“hereditary whispering dysphonia”). However, in DYT4, brain imaging has been reported to be normal and, therefore, H-ABC syndrome and DYT4 have been construed to be different disorders, despite some phenotypic overlap. Clinically there is severe generalized dystonia with superimposed pyramidal and cerebellar signs, bulbar involvement leading to complete aphonia and swallowing difficulties, and epilepsy. Magnetic resonance imaging (MRI) shows hypomielinization and neostriatal and cerebellum atrophy.

Methods: Case report  and clinical record review of a patient in Telethon Children Rehabilitation and Inclusion Centre, in Tuxtla Gutierrez, Chiapas, Mexico.

Results: Female, 13 years old (yo), who attends to therapies since 3 yo. No relevants in her medical history, noticed at 7 months psychomotor retardation and appearance of global hypertonia; at 6 yo achieved walking with help of baby-walker. Thereafter she began with feet dystonia and progressive motor impairment. She underwent to tenotomy and myomotmy in 2012, gastrostomy in 2014 and several botulinic toxin applications. In 2015 was diagnosed after anaylisis of MRI. She has had two dystonic status, last one in january 2016, with oromandibular dystonia and self-mutilation of the tongue, requiring botulinic toxin and tooth extraction, odontogram 33, 32, 41 and 42. Currently she weights 20 kg and is medicated with clonazepam and trihexyphenidyl, without benefit of levodopa.

Conclusions: 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. Our patient is on the way for the genetic testing of TUBB4A mutations.

References: Tomás-Vila M, Menor F, Ley-Martos M, Jumillas-Luján MJ, Marco-Hernández AV, Barbero P. Hipomielinización con atrofia de ganglios basales y cerebelo. Contribución con 2 nuevos casos a una entidad de descripción reciente. Rev Neurol. 2014 Feb 16;58(4):161-5.

Erro R, Hersheson J, Ganos C, Mencacci NE, Stamelou M, Batla A, et al. H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations? Mov Disord. 2015 May;30(6):828-33.

« Back to 2017 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/hypomyelination-with-atrophy-of-the-basal-ganglia-and-cerebellum-h-abc-a-mexican-case-report/