Moyamoya syndrome in a patient with D-2-hydroxyglutaric aciduria type II: a rare association.

Abstract

Several underlying conditions of moyamoya syndrome (MMS) are well established, but so far, D-2-hydroxyglutaric aciduria (D-2-HGA) has not been mentioned. We are the first to describe a case of a patient suffering from D-2-HGA developing MMS. The co-occurrence of D-2-HGA and MMS in a patient is reported. Furthermore, we describe the neurosurgical revascularization procedure performed and report on the follow-up. A 7-year-old girl suffering from D-2-HGA developed two transient ischemic attacks (TIAs). Using MRI/MRA and invasive angiography MMS was diagnosed. We performed an encephalo-duro-arterio-myo-synangiosis (EDAMS) as an indirect revascularization procedure first on the right and 2months later on the left hemisphere. We have followed her up until the age of 10. Since the second surgery, she has not suffered further TIAs and is in a better general medical condition. Even though children with D-2-HGA often suffer epileptic attacks, every new (transient) neurological deficit should be followed up by an MRI/MRA so as not to oversee a possible underlying MMS. After diagnosis, EDAMS in combination with acetylsalicylic acid (ASA) is recommended to prevent further ischemic events.