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Subdural Hygroma in an Infant with Marfan's Syndrome
Lisa Ballmann1, Sabine Scholl-Bürgi2, Thomas Karall1
1Department for Pediatrics III (Pediatric Cardiology), Medical University of Innsbruck, Innsbruck, Austria.
Abstract:
Based on a patient encounter in which genetically confirmed Marfan's syndrome (MFS) underlay a spontaneously resolving subdural hygroma (SDHy) diagnosed in infancy, we review the literature of MFS clinically manifest in early life (early-onset MFS [EOMFS]) and of differential diagnoses of SDHy and subdural hemorrhage (SDHe) at this age. We found that rare instances of SDHy in the infant are associated with EOMFS. The most likely triggers are minimal trauma in daily life or spontaneous intracranial hypotension. The differential diagnosis of etiologies of SDHy include abusive and nonabusive head trauma, followed by perinatal events and infections. Incidental SDHy and benign enlargement of the subarachnoid spaces must further be kept in mind. SDHy exceptionally also may accompany orphan diseases. Thus, in the infant, EOMFS should be considered as a cause of SDHe and/or SDHy. Even in the absence of congestive heart failure, the combination of respiratory distress syndrome, muscular hypotonia, and joint hyperflexibility signals EOMFS. If EOMFS is suspected, monitoring is indicated for development of SDHe and SDHy with or without macrocephaly. Close follow-up is mandatory.
Insights
Early-onset Marfan
Area of Science:
- Pediatric Neurology
- Genetics
- Radiology
Background:
- Marfan's syndrome (MFS) is a genetic disorder affecting connective tissue.
- Early-onset MFS (EOMFS) presents with significant clinical manifestations in infancy.
- Subdural hygroma (SDHy) and subdural hemorrhage (SDHe) in infants require thorough etiological investigation.
Observation:
- A case of EOMFS was associated with a spontaneously resolving infantile SDHy.
- Rare instances of infantile SDHy have been linked to EOMFS.
- Potential triggers for SDHy in EOMFS include minor trauma or intracranial hypotension.
Findings:
- EOMFS should be considered in the differential diagnosis of infantile SDHy and SDHe.
- Clinical signs of EOMFS in infants include respiratory distress, hypotonia, and hyperflexibility, even without heart failure.
- Differential diagnoses for infantile SDHy encompass head trauma, perinatal issues, infections, and rare genetic disorders.
Implications:
- Early identification of EOMFS is crucial for infants presenting with SDHy or SDHe.
- Monitoring for SDHy/SDHe and macrocephaly is recommended in suspected EOMFS cases.
- Close clinical follow-up is essential for managing infants with suspected EOMFS and associated intracranial findings.
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