Craniosynostosis in Siblings, an Extremely Rare Occurrence: A Case Report

Area of Science:

• Pediatric Neurosurgery
• Clinical Genetics
• Craniofacial Surgery

Background:

• Craniosynostosis (CS) involves premature fusion of skull sutures, potentially causing abnormal skull shape and neurodevelopmental issues.
• While CS is rare, familial occurrence, especially in siblings, is exceptionally uncommon.
• Understanding genetic and phenotypic variations in familial CS is crucial for accurate diagnosis and management.

Purpose of the Study:

• To report a rare case of craniosynostosis (CS) occurring in siblings.
• To discuss the diagnostic modalities and genetic implications of familial CS.
• To outline current management strategies for CS, focusing on preventing complications.

Main Methods:

• Case report of a 13-month-old boy and his five-year-old sister diagnosed with craniosynostosis.
• Utilized multislice computed tomography (CT) brain with 3D skull reconstruction and magnetic resonance imaging (MRI).
• Conducted ophthalmologic evaluations and developmental assessments to rule out increased intracranial pressure (ICP) and systemic issues.

Main Results:

• Both siblings presented with craniosynostosis, with the younger having sagittal suture closure and the elder exhibiting multisutural CS.
• Neither sibling showed signs of increased ICP, limb anomalies, or systemic issues.
• Parents were unaffected, suggesting a complex inheritance pattern or de novo mutation.

Conclusions:

• This sibling case of CS is significant due to its rarity and challenges typical autosomal dominant inheritance patterns.
• Multislice CT with 3D reconstruction is the gold standard for diagnosing CS.
• Ongoing monitoring is essential for these siblings to detect potential complications or recurrence, even with normal initial development.