Cureus · 2026
Sandhoff Disease Associated With Bipolar Disorder: A Case Report From the United Arab Emirates.
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Abdelrahman Ansam, Alowais Maryam, Elamin Ahmed, Ahmed Aaya E, Rakhange Adiba, Darweesh Ahmed, Adi Abdul Jabbar, Otour Ahmad
Аннотация
Late‑onset Sandhoff disease is a rare lysosomal storage disorder that may present with neuropsychiatric features. This report describes a 38-year-old woman with an established diagnosis of bipolar I disorder who developed progressive neurological symptoms alongside an acute manic and psychotic episode. Her presentation included motor incoordination, speech difficulties, weakness, and functional decline, accompanied by cerebellar signs on neurological examination and structural changes on neuroimaging. Genetic evaluation confirmed a pathogenic variant consistent with Sandhoff disease. The acute psychiatric episode was managed with antipsychotic and mood‑stabilizing treatment, leading to resolution of manic symptoms and subsequent psychiatric stability during rehabilitation and follow‑up. This case highlights the importance of considering an underlying metabolic or neurogenetic disorder when psychiatric symptoms occur in the context of progressive neurological findings, as such comorbidity can complicate diagnosis and management and requires a multidisciplinary approach.