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Hypersomnolence-hyperkinetic movement disorder in a child with compound heterozygous mutation in 4-aminobutyrate aminotransferase (ABAT) gene
- Source :
- Braindevelopment. 39(2)
- Publication Year :
- 2016
-
Abstract
- Deficiency of gamma-amino-butyrate aminotransferase (ABAT) is a rare inherited disorder. A six-month-old girl presented with hyper-somnolence, hyperkinetic movements of distal extremities during wakefulness, hypotonia, bi-pyramidal signs, and impaired response to sound and visual stimuli. Brain MRI at five months showed restricted diffusion along the internal capsule and genu of corpus callosum. A follow up MRI at 18months, showed hyperintensities in brainstem, external and internal capsule, 'trilaminated' appearance of posterior limb of internal capsule and dysmyelination of sub-cortical white matter. MRS showed a peak between 2.2ppm and 2.4ppm, corresponding to glutamine, glutamate and GABA. EEG was normal at six months but showed multifocal epileptiform discharges at 18months. Targeted exome sequencing revealed compound heterozygous missense variations in ABAT resulting in its reduced function. We report the novel association of hypersomnolence and hyperkinetic movement disorder with ABAT variations thus expanding the clinical spectrum of this uncommon neuro-metabolic disorder and discuss the emerging role of GABA in pathways regulating sleep-wake cycle and movement disorders.
- Subjects :
- 0301 basic medicine
Pathology
medicine.medical_specialty
Heterozygote
Internal capsule
Movement disorders
Developmental Disabilities
Mutation, Missense
Disorders of Excessive Somnolence
Hyperkinesis
Compound heterozygosity
Corpus callosum
White matter
Diagnosis, Differential
03 medical and health sciences
0302 clinical medicine
Developmental Neuroscience
medicine
Humans
Sequence Homology, Amino Acid
business.industry
Brain
Infant
General Medicine
Hyperintensity
Hypotonia
030104 developmental biology
medicine.anatomical_structure
4-Aminobutyrate Transaminase
Pediatrics, Perinatology and Child Health
Wakefulness
Female
Neurology (clinical)
medicine.symptom
business
030217 neurology & neurosurgery
Follow-Up Studies
Subjects
Details
- ISSN :
- 18727131
- Volume :
- 39
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- Braindevelopment
- Accession number :
- edsair.doi.dedup.....3ad896535036a5606ab41ebc8da94722