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Abstract Details

A Case of progressive leukodystrophy and congenital deafness?associated?with?KARS mutation
Child Neurology and Developmental Neurology
P14 - Poster Session 14 (8:00 AM-9:00 AM)
5-007
A unique case of a patient, born deaf, with a strong family history of deafness, who had a progressive neurologic decline and was found to have leukodystrophy and genetic findings. 
The leukodystrophies can cause severe progressive neurologic deterioration often leading to premature death. Each type of leukodystrophy is caused by a specific gene abnormality which disrupts the growth or maintenance of the myelin sheath.  
NA
A 19 year old female, of Guatemalan descent, with past medical hx of congenital deafness with cochlear implant, presented with 6 week progression of left sided weakness, paresthesias, gait limitation, and right sided headaches. At this time, patient’s exam was significant for left lower extremity weakness, diminished sensation on the left, and pathologic hyperreflexia. Over the course of the next 2 years, she developed right sided weakness, impairing her ability to walk, requiring assistance with ADLs and seizure disorder, with multiple inpatient admissions for status epilepticus. Her initial MRI, showed a FLAIR hyperintense lesion involving the posterior right frontal and right parietal lobes with extension across the splenium and posterior body of the corpus callosum, involving the left parietal corona radiata and centrum semiovale. Subsequent workup included a cerebral angiogram, two brain biopsies, lumbar punctures, paraneoplastic and encephalitis workup, and MR spectroscopy which showed concerns of demyelinating disease versus malignancy, with no specific etiology. Genetic testing showed a D377N variant in the KARS gene. Patient was eventually discharged with hospice and comfort measures.  
As in this case, pathogenic variants in the KARS gene have been shown to cause deafness and an early onset leukodystrophy. This variant, p.Asp377Asn (D377N), may be a novel variant linking a common neurodevelopmental birth defect with this neurologic disease.  
Authors/Disclosures
Anuradha Singh, DO (Hackensack Meridian Health Network)
PRESENTER 		Dr. Singh has nothing to disclose.
Jane Shaji, MD (Stony Brook U Hospital, Dept of Neurology) No disclosure on file
Emilio R. Garrido Sanabria, MD, PhD (Physicians Regional Medical Center) Dr. Garrido Sanabria has nothing to disclose.
Agnes Kowalska, MD (SUNY At Stony Brook) Dr. Kowalska has nothing to disclose.
Simona Treidler, MD (Stony Brook University) Dr. Treidler has nothing to disclose.
Saima Siddiqui, MD (Stony Brook University Hospital) Dr. Siddiqui has nothing to disclose.