Familial multiple cavernomatosis and neuropsychiatric symptoms: Is there any relation?

Abstract

Introduction

Cavernomas are clusters of abnormal blood vessels found in the brain and spinal cord. The familiar form is an autosomal dominant disorder associated with the presence of multiple cavernomas in both locations.

Clinical Case

A 84-year-old man was admitted in our neurologic department for a sudden onset of difficulty in walking associated with loss of urinary sphincter control. Past history included a major depressive disorder with psychotic features since youth, epilepsy since 33 years old and, at 77 years old, he had a hemorrhagic stroke resulting from cavernous malformation haemorrhage. Medication consisted of clopidogrel 75 mg id, risperidone 3 mg id, venlafaxine 37.5 mg bid and clobazam 10 mg id. On neurological examination, he showed psychomotor slowing, dysexecutive syndrome, paraparesis and hypoesthesia with sensitive level by D10. Blood test was normal. Dorsolumbar spine-TC showed intradural hyperdensity by D12-L1, probably because of a hemorrhage lesion, that MRI revelled to be a cavernoma. Brain-MRI demonstrated 3 massive cavernomas in cortical-subcortical right occipital lobe, left lenticular nucleus and left pre-central gyrus and countless small infratentorial and supratentorial cavernomas. We inquired his family and we found out that one of his daughters also had multiple brain cavernomas, diagnosed after a hemorrhagic stroke when she was 55 years old.

Conclusion

Familiar multiple cavernomatosis is associated with neuropsychiatric disorders. We enhance the impact that such a diffuse form of the disease has on the brain network causing atypical psychocognitive symptoms. In all cases a detailed neuropsychiatric family history should be sought and all should be followed regularly clinically and by MRI.

Disclosure of interest

The authors have not supplied their declaration of competing interest.