A 16-year-old male with
progressive walking difficulty and dystonia
• Teaching NeuroImages
• Neurology
• Resident & Fellow Section
© 2019 American Academy of Neurology Vinayagamani S, et al.
Vignette
© 2019 American Academy of Neurology
• A16-year-old-male patient, born of non-consanguineous parentage, had an uneventful birth history and mild global developmental delay.
•
• He had progressive gait disturbances since 2 years of age.
• Examination revealed generalized dystonia, scanning speech, pendular nystagmus, cerebellar ataxia, and spasticity.
Vinayagamani S, et al.
Imaging
© 2019 American Academy of Neurology Vinayagamani S, et al.
DIAGNOSIS
© 2019 American Academy of Neurology
• MRI brain showed features of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC).
• Next generation exome sequencing showed a heterozygous mutation in exon 4 of TUBB4A (c.731G>A) confirming the diagnosis of H-ABC
• Conclusions
• The presence of generalised dystonia and atrophic/absent putamen are the two features that distinguish H-ABC from the other hypomyelinating
leukodystrophies like Pelizaeus-Merzbacher disease, Salla disease and Tay syndrome.1,2
Vinayagamani S, et al.