Neurodegeneration in an adolescent with Sjogren-Larsson syndrome: a decade-long follow-up case report

BMC Medical Genetics
K H ChoM Kim

Abstract

Sjogren-Larsson syndrome is a hereditary neurocutaneous syndrome that is non-progressive in nature. Although neuroregression has been reported in seizure-prone preschool children requiring anti-epileptic treatment, teenage-onset dystonia precipitating neurodegeneration without any immediate causal events has yet to be reported. We describe a young woman with spastic diplegia and intellectual disability who began to show progressive neurological deterioration from 12 years of age, with the onset of dystonia and tremor. She was initially diagnosed with spastic cerebral palsy and periventricular leukomalacia based on brain magnetic resonance imaging. Follow-up brain imaging from 13 years of age did not reveal apparent changes, though abnormal electroencephalographic findings occurred in parallel with her decline in motor function. By 19 years of age, she had developed dysphagia and became completely dependent on others for most activities of daily living. Ultimately, whole-exome sequencing revealed a heterozygous compound mutation in the ALDH3A2 gene that corresponds to Sjogren-Larsson syndrome: an exon 9 deletion (1291-1292delAA) from the mother and an exon 5 splicing mutation (798 + 1delG) from the father. Neuroregression has be...Continue Reading

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Citations

Jan 17, 2020·The International Journal of Neuroscience·Yi-Dan LiuQing-Xia Kong
Sep 13, 2019·Ophthalmic Genetics·Samiksha Fouzdar-JainWilliam B Rizzo
Jul 29, 2021·Journal of Child Neurology·Simone WarrackWilliam B Rizzo

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