Table of Contents

HK J Paediatr (New Series)
Vol 2. No. 2, 1997

HK J Paediatr (New Series) 1997;2:185-186

Proceedings of Scientific Meeting

Moyamoya in A Child with Von Recklinghausen Disease

KL Kwong, YC Wong, KY Yam, SN Wong, KT So

HK J Paediatr (new series) 1997;2:175-186

Hong Kong Paediatric Society 35th Anniversary Scientific Meeting September 6,1997

About 40 cases of von Recklinghausen disease associated with cerebrovascular lesions have been reported in the literature but Magnetic resonance imaging (MRI) and angiographic findings typical of moyamoya disease are rare. We present a patient with von Recklinghausen disease complicated by cerebrovascular problem and review the literature.

A 8-year-old girl had sudden unprovoked onset of transient right facial weakness. Neurofibromatosis type-I was diagnosed at 2 years on the basis of multiple cafe-au-lait spots and axillary freckles. She suffered from mild mental retardation. There was no family history of cafe-au-lait patches. On examination, there was no residual neurological sequalae, the fundi and blood pressure were normal. MRI brain detected left hypoglossal plexiform neuroma with tortuous vessels in bilateral basal ganglia, more marked on the left side. The cavernous portion of internal carotid arteries appeared narrowed. A small infarct in deep parietal region was noted. MRA of Circle of Willis showed stenosis of the left middle cerebral artery, anterior cerebral artery and posterior communicating artery with multiple small vessels seen arising related to the Circle of Willis. These findings were compatible with Moyamoya disease. Carotid angiogram confirmed the diagnosis of moyamoya disease by showing a fine telangiectatic network with stenosis of bilateral terminal portion of the internal carotid arteries especially on the left sided. Encephaloduro-arteriosynangiosis was performed at age of 10 years. The child was asymmptomatic on follow-up.

Transient cerebrovascular ischaemia is a common presentation of moyamoya disease in childhood. MRI is sensitive in the demonstration of ischaemic changes and often revealed narrowing of intracranial vessel and dilatation of lenticulostriate collateral vessels. MRA is particularly useful in the follow-up of patients after surgery. Definitive diagnosis depends on the carotid angiogram.

The pathogenesis of moyamoya disease is unknown. The vascular network is believed to represent a collateral pathway resulting from stenosis or occlusion of the circle of Willis. Concentric intimal thickening, proliferation of spindle cells and disruption of internal elastin of cerebral vessels were reported by the limited histopathologic data on cerebrovascular lesions in von Recklinghausen disease.

Our patient illustrates that while cerebrovascular lesions are rare in von Recklinghausen disease, they can cause serious complication such as cerebral infarction. MRI is an effective, noninvasive and sensitive investigation for identifying such lesions.


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