View Only- Adult SIG Genomic Case Conference-University of Washington Adult Genetic Medicine Clinic-Adult SIG Genomic Case Conference-University of Washington Adult Genetic Medicine Clinic

Adult SIG Genomic Case Conference-University of Washington Adult Genetic Medicine Clinic

Video Transcription

Video Summary

In this video, three different cases are presented. The first case discusses a 42-year-old female patient who experienced neurological symptoms, including confusion, abnormal movement, and seizures. She was diagnosed with mitochondrial disease, specifically with Lee Syndrome and MILAS (mitochondrial encephalopathy lactic acidosis and stroke-like episodes). The patient received treatment with IV arginine for the acute episodes of stroke-like symptoms. The video emphasizes the difficulty in diagnosing mitochondrial diseases and the importance of high suspicion for these conditions based on specific symptoms and brain imaging findings. The second case involves a 29-year-old male patient with a family history of Lynch Syndrome. He carries a likely pathogenic variant in the MSH2 gene, but not the same variant found in his sister. The patient is recommended to follow first-degree relative diagnosis guidelines for increased colon cancer screening. The third case is about a 31-year-old woman with progressive neuropathy and severe sensory neural hearing loss. She is found to have a pathogenic variant in the SOX10 gene, leading to a diagnosis of Wardenburg Syndrome. The video highlights the complex clinical and genetic heterogeneity of Wardenburg Syndrome and the potential for other manifestations beyond the classic white forelock. Overall, the cases underscore the importance of genetic testing in diagnosing and managing patients with genetic and metabolic conditions.

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Keywords

neurological symptoms

mitochondrial disease

Lee Syndrome

MILAS

IV arginine

Lynch Syndrome

MSH2 gene

Wardenburg Syndrome

genetic testing