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

TL;DR

A patient with a KRIT1 gene mutation developed dysautonomia, leading to urological, sexual, and bowel issues, possibly due to a pontine cavernous malformation.

Contribution

This case report explores a novel link between a KRIT1 mutation, pontine cavernous malformations, and dysautonomia symptoms.

Findings

The patient's dysautonomia symptoms were associated with a KRIT1 mutation and a pontine cavernous malformation.

Literature review suggests a possible connection between pontine CM and dysautonomia.

KRIT1 mutations may have pleiotropic effects impacting autonomic functions.

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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