# Transient Dysphagia as a Presenting Symptom of Familial Cerebral Cavernous Malformation

## TL;DR

A woman with transient dysphagia was found to have a rare brain condition called familial cerebral cavernous malformation through MRI and genetic testing.

## Contribution

This case report highlights an atypical presentation of familial cerebral cavernous malformation with transient dysphagia as the initial symptom.

## Key findings

- Transient dysphagia can be an atypical presenting symptom of familial cerebral cavernous malformation.
- MRI with susceptibility-weighted imaging revealed multiple cerebral and cerebellar lesions consistent with FCCM.
- A pathogenic KRIT1 mutation was identified through genetic testing, confirming the diagnosis of FCCM.

## Abstract

Cerebral cavernous malformations (CCMs) are vascular lesions characterized by a collection of thin-walled capillaries with slow blood flow, which are often identified incidentally on MRI. CCMs are the most common cerebral vascular malformation after developmental venous anomalies. Familial CCM (FCCM) is a rare autosomal dominant disorder characterized by several lesions throughout the central nervous system. We report the case of a 47-year-old female patient who presented to the neurology clinic with a chief complaint of transient dysphagia. An MRI of the brain without contrast, including susceptibility-weighted imaging (SWI), demonstrated numerous punctate foci of susceptibility-related signal loss throughout the cerebral and cerebellar hemispheres. Genetic testing revealed a pathogenic KRIT1 mutation, confirming FCCM. The patient’s dysphagia resolved within one month of the initial onset and, fortunately, has not returned. This case highlights an atypical presentation of FCCM and the importance of an extensive workup in patients with unexplained neurologic symptoms.