Sudden death associated with syndromic craniosynostosis

Area of Science:

• Pediatric Pathology
• Clinical Genetics
• Neuropathology

Background:

• Syndromic craniosynostosis is a group of genetic disorders characterized by premature fusion of cranial sutures.
• Crouzon syndrome, a common form, presents with distinct craniofacial malformations.
• Early diagnosis and management are vital to prevent severe neurological complications.

Observation:

• A 7-year-old girl presented with headache, nausea, and vomiting, followed by sudden death.
• Autopsy revealed severe cerebral edema, tonsillar herniation, and premature cranial suture fusion.
• Ocular abnormalities were noted on external examination.

Findings:

• The autopsy findings were consistent with severe cerebral edema secondary to syndromic craniosynostosis.
• Craniofacial features suggested Crouzon syndrome.
• Molecular testing confirmed a mutation in the FGFR2 gene, diagnosing Crouzon syndrome.

Implications:

• This case highlights the critical link between syndromic craniosynostosis and potentially fatal cerebral edema.
• It underscores the importance of recognizing subtle craniofacial and neurological signs for timely diagnosis.
• Genetic testing plays a key role in confirming diagnoses like Crouzon syndrome and guiding future care.