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Craniosynostosis in Siblings, an Extremely Rare Occurrence: A Case Report
Tirth Bhavsar1, Sachin Mahendrakumar Chaudhary2, Sumesh Singh3
1Smt. NHL Municipal Medical College Ahmedabad Gujarat India.
Insights
Craniosynostosis (CS) is the premature fusion of skull sutures. This report details an exceptionally rare case of CS in siblings, highlighting diagnostic and management considerations for this condition.
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.
Abstract:
Craniosynostosis (CS) is the premature fusion of skull sutures, with all sutures except the metopic suture typically fusing in adulthood. Premature fusion constrains brain growth, leading to abnormal skull shape and potential neurocognitive or neurological issues, along with syndromic features in some cases. While CS is rare, its occurrence in siblings is exceptionally uncommon and holds significant academic importance. We report a case of CS in siblings: a 13-month-old boy and his five-and-a-half-year-old sister. Neither parent exhibits craniofacial dysmorphism or signs of increased intracranial pressure (ICP). The younger sibling presents with dolichocephaly and normal neurological, cognitive, and motor development, while the elder sibling exhibits proptosis, midface hypoplasia, and normal developmental milestones. Neither sibling displays limb or systemic anomalies. Imaging studies, including multislice plain CT brain with 3D skull reconstruction and MRI, revealed multiple suture closures. The younger sibling has complete sagittal suture closure with partial closure of other sutures, while the elder sibling shows multisutural CS. Ophthalmologic evaluations and developmental assessments excluded increased ICP and systemic issues. Most CS cases follow an autosomal dominant inheritance pattern, making this case particularly significant. CT with 3D skull reconstruction remains the diagnostic gold standard. Management aims to preserve cosmetic appearance and prevent complications from increased ICP. Treatment options range from conservative follow-up to surgical interventions, including endoscopic suturectomy, open craniotomy, and distraction osteogenesis, depending on the presence of neurocognitive issues or elevated ICP. Both siblings currently show normal neurological, cognitive, and motor development without increased ICP, emphasizing the need for ongoing monitoring to identify new developments or recurrence after treatment. Differential diagnoses, such as deformational plagiocephaly, must also be considered in such cases.
