Moyamoya hastalığı ile bilateral renal arter darlığı ve karnitin eksikliği koinsidansı

Semptomları yaşamın ilk yılnda başlayan ve beraberinde renovasküler hipertansiyonu ve karnitin eksikliği saptanan 14 aylık bir vaka bildirilmiştir. İlk kez 11 aylık iken ateşsiz olarak sağ hemikon-vülsiyonu olan, sağ kolda postiktal parezisi kalan hastanın birer ay ara ile 2 kez daha generalize tonik klonik konvülsiyonu olduğu; son nöbetten sonra nöromotor gelişimi normal olan hastanın yürüme ve yutmasının bozulduğu, başını dik tutamadığı ve oturamadığı, çevre ile ilgisinin kesildiği öğrenildi. Dejeneratif beyin hastalığı kliniği gösteren hasta, bu yönde ve hipertansiyon sebebi için araştırıldı. Serebral ve renal dijital substraksiyon anjiografide Moyamoya Hastalığı tanısı kondu ve renovasküler hipertansiyon saptandı, serum karnitin düzeyinde düşüklük bulundu. MH ve renovasküler hipertansiyon birlikteliği nedeniyle, MH'nın sistemik bir artériel hastalığın serebral manifestasyonu olabileceği yolundaki literatür verileri ile vaka tartışıldı.

Moyamoya disease coincidence with bilateral renal artery stenosis and carnitine deficiency

We report a fourteen-month-old patient whose symptoms began during his first year of life togeth-er with renovascular hypertension. He first experi-enced a convulsion at 11 months, after which postictal paresis in his right arm ensued. Later, he experienced two tonic-clonic seizures at one-month intervals. The patient's previously normal neuromotor development deteriorated after the last attack. He could no longer sit, lift his head, or swallow, and he lost interest in his surroundings. Clinical examination focused on degenerative brain diseases and the etiology of hypertension. Cerebral and renal digital substraction angiogra-phy revealed Moyamoya and renovascular dis-ease. The patient's serum carnitine level was found to be low. Because of the association of Moyamoya disease, renovascular hypertension and carnitine deficiency, we discuss this case in light of the literature on Moyamoya disease as a cerebral manifestation of systemic arterial disease.

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