Chronic subdural hematoma: A previously unreported life‐threatening complication in adult with Sotos syndrome. Issue 12 (14th October 2020)

• Record Type: Journal Article
• Authors: Carli, Diana; Gazzin, Andrea; Bongioanni, Maria Roberta; Bergui, Mauro; Mussa, Alessandro; Ferrero, Giovanni Battista
• Is Part Of: American journal of medical genetics. Volume 182:Issue 12(2020)
• Page Start: 3052
• Page End: 3055
• Publication Date: 2020-10-14
• Subjects: adult -- chronic subdural hematoma -- macrocephaly -- middle meningeal artery embolization -- Sotos syndrome; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.61900
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract: Macrocephaly, defined as head circumference ≥ 2 SDs, is a cardinal feature of Sotos syndrome (SS) and generally persists in adulthood. Subdural fluid collection, typically associated with macrocephaly, is described in children due to anatomical conformation, and in adulthood due to brain atrophy and ex‐vacuo hydrocephalus. On the other hand, a true, symptomatic, chronic subdural hematoma (CSH) is a previously unreported complication of SS in adulthood. Here we describe the first SS patient presenting symptomatic CSH, leading to frequent hospitalizations for surgical evacuations that consistently recurred. Middle meningeal artery (MMA) embolization and epidural blood patch (EBP) allowed to resolve the CSH with complete resolution of clinical signs and symptoms. We hypothesize that appearance and recurrences of CSH may be related to pathological biomechanics of brain, cerebro‐spinal fluid and skull, secondary to anatomical features of SS. In this context, surgical evacuation may be less efficient than usual to cure CSH. Alternative treatment to avoid blood extravasation, as MMA embolization, or to cure concurrent causes of the pathology, as EBP, may be considered.