FAMILIAL VASCULAR DISEASE AS A CAUSE OF NONRECURRING ENCEPHALITIS-LIKE EPISODES IN EARLY CHILDHOOD

Objectives: To describe an unusual neurological course of a systemic vascular disease in two sisters of non-consanguineous parents.

Methods: Case report.

Results: The first child developed an acute hemiparesis and focal seizures at the age of 6 months during a febrile illness. MRI showed bilateral cortical-subcortical infarction within the vascular watershed areas. Subsequently the child had a stable neurological deficit. Her younger sister had the same encephalitis-like episode at the age of 4 months, with left sided cortical-subcortical ischemic lesions. Two months later she had left sided focal seizures. MRI showed a right-sided cortical enhancement, but MRA was normal. The neurological deficit was stable and she was seizure free. These episodes were interpreted as metabolic strokes, but work-up was normal and MELAS was excluded. In their teens both sisters were diagnosed with cardiomyopathy, pulmonary and systemic hypertension. Renal artery stenosis, pathologic pulmonary arteries and stenosis and rarefication of coronary arteries were found, aorta and retinal vessels were normal. Repeat cranial MRI and MRA showed multiple collaterals while the carotid and basilary arteries were virtually absent (moyamoya appearance).

Conclusion: We suggest a hereditary systemic vasculopathy of unknown origin. Moyamoya syndrome rarely starts in the first months of life and extracranial vessel involvement is very rare. Coronary, renal and pulmonary artery stenosis have been described but not to this extent and combination. Normal MRA at the time of a first insult does not exclude underlying vascular disease. Signs of systemic vascular involvement should be sought and MRA repeated.