Neonatal Moyamoya Disease of Unclear Origin

• Published in: Neuropediatrics
• Main Authors: Losch, H., Viemann, M., Kowald, T., Korenke, G. C.
• Format: Conference Proceeding
• Language: English
• Published: 20.04.2016
• ISSN: 0174-304X; 1439-1899
• DOI: 10.1055/s-0036-1583629

Background/Purpose: We describe the unusual case of a newborn twin with a connatal symptomatic moyamoya disease with strokes and seizures. Methods: Case report. Results: After an uncomplicated twin pregnancy our patient was delivered by caesarean section at the gestational age of 37+1. Being the second twin, he immediately suffered from muscular hypotonia, weakness and desaturations with increasing frequency. In Video-EEG, the desaturations were found to be a clinical sign of epileptic seizures of focal origin that generalized quickly. Using cerebral ultrasound and Doppler, the right A. cerebri media showed no flow. In cMRI, the right A. cerebri media and A. carotis interna were not visible. There were large defect zones in almost the entire left hemisphere and acute signs of ischemia in the right middle cerebral artery distribution. Because bilaterally large cerebral vessels were affected, we diagnosed moyamoya disease with an unusually early onset and severe symptoms. Metabolic, coagulation and cytogenetic chromosomal diagnostics were normal. Seizures stopped after initial therapy with phenobarbital, later replaced by levetiracetam. At the age of 6 weeks, there was no developmental difference to the twin except for a slight increase of the left patellar reflex. Conclusion: No comparable constellation with connatal symptoms was found in the literature. Etiology and prognosis thus remain unclear and require further examinations and discussion. Assuming a favorable course of disease we are planning a MRI control and an angiography; we might consider a cerebral revascularization.