Chronic subdural hematoma: A previously unreported life‐threatening complication in adult with Sotos syndrome

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.

Cerebrovascular diseases in two patients with entire NSD1 deletion

“…Our two patients, together with the patient reported by Carli et al 5 , indicate that parenchymal hemorrhage and subdural hematoma may be characteristic features of CVDs associated NSD1 abnormality. Given that the precise pathogenesis of CVD is unclear, it is indeed difficult to explain the observed difference of disease onset and CVD phenotype.…”

“…We report two patients of Sotos syndrome accompanied by CVDs. To our knowledge, one other patient of Sotos syndrome with CVD has been described who had recurrent chronic subdural hematoma, and harbored a de novo canonical splice site variant in NSD1 (NM_022455.4:c.5892+1G>T) 5 . Collectively, therefore, three of >450 patients of Sotos syndrome showed CVDs (<0.6%).…”

“…Their clinical features have been well characterized and include the cardinal features, dysmorphic facial appearance, learning disability, and childhood overgrowth, as well as advanced bone age, cardiac anomalies, renal anomalies, and scoliosis. Central nervous system symptoms of macrocephaly, ventriculomegaly, behavioral problems, and seizures have also been reported 4 , although only one patient has been described with cerebrovascular disease (CVD) 5 . Here we report two Sotos syndrome patients arising from entire NSD1 deletion that have CVDs.…”

Subdural Hemorrhage as an Early Presentation in a Case of Sotos Syndrome

“…Carli et al previously reported an adult female with Sotos syndrome with recurrent SDH between ages 29 and 30 years. 9 More recently, Itai et al reported a male with subdural hematoma and parenchymal hemorrhage in the posterior lobes in the neonatal period, as well as a 39-year-old woman with evidence of recurrent parenchymal hemorrhage. 10 Park et al additionally reported an infant with Sotos syndrome requiring a subduroperitoneal shunt at 10 months due to a severe subdural hygroma.…”