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

• Published in: Child's nervous system Vol. 40; no. 7; pp. 2241 - 2244
• Main Authors: Kühnl, Tobias, Januschek, Elke, Offenbach, Sana Klinikum
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.07.2024
• Subjects: Case Report; Medicine; Medicine & Public Health; Neurosciences; Neurosurgery; EDAMS; Moyamoya syndrome; D-2-Hydroxyglutaric aciduria type II
• ISSN: 0256-7040; 1433-0350; 1433-0350
• DOI: 10.1007/s00381-024-06340-9

Purpose 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. Methods 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. Results 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 2 months 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. Conclusion 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.