Complex Dysautonomia in a Patient With Cerebral Cavernous Malformations Due to a KRIT1 Pleiotropic Gene Mutation

因KRIT1多效性基因突变导致脑海绵状血管畸形患者出现复杂性自主神经功能障碍

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Abstract

Dysautonomia is a disruption of the body's autonomic processes. Symptoms vary among patients, depending on the underlying disease pathways. Given that symptoms can affect all organ functions, dysautonomia often significantly impacts quality of life. However, due to its complex and varied presentation, early recognition of dysautonomia remains a challenge, yet it is crucial for improving patient outcomes. We report a case of a patient with a KRIT1 mutation presenting with dysautonomia causing urological, sexual, and bowel dysfunction. We hypothesize that the patient's symptoms are due to a pontine cavernous malformation (CM) caused by the KRIT1 mutation. A literature review was conducted to establish a link between pontine CM and dysautonomia.

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