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

Tomoki T Nomakuchi1, Cesar Augusto P Alves2, Lauren A Beslow3,4,5

  • 1Division of Human Genetics, Children's Hospital of Philadelphia, Pennsylvania, United States.

Neuropediatrics
|March 13, 2023
PubMed

Insights

Sotos syndrome, a genetic overgrowth disorder, may increase the risk of subdural hemorrhages (SDH) in infants. Consider Sotos syndrome in unexplained SDH cases, particularly with macrocephaly.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Subdural hemorrhages (SDH) in children carry high mortality and morbidity, often prompting investigation for abusive head trauma or underlying genetic disorders.
  • Sotos syndrome, characterized by overgrowth, macrocephaly, and developmental delays, is rarely associated with neurovascular complications.

Observation:

  • Two cases of Sotos syndrome are presented: one infant with SDH initially suspected as abuse, and another with enlarged extra-axial cerebrospinal fluid spaces.
  • The enlarged spaces in the second case suggest a potential mechanism for SDH development in Sotos syndrome.

Findings:

  • Individuals with Sotos syndrome may have an elevated risk of developing SDH during infancy.
  • Macrocephaly and enlarged extra-axial spaces in Sotos syndrome could predispose to SDH.

Implications:

  • Sotos syndrome should be considered in the differential diagnosis for unexplained pediatric SDH, especially when macrocephaly is present.
  • Early diagnosis of Sotos syndrome can prevent unnecessary investigations for child abuse and guide appropriate management.

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