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Involvement of the skull base and vault in chronic idiopathic hyperphosphatasia
L Mazzanti1, P Ambrosetto, R Libri
11st Paediatric Clinic, University of Bologna, Bologna, Italy.
Insights
Chronic idiopathic hyperphosphatasia (CIH), a rare skeletal dysplasia, can cause severe skull base and vault abnormalities in children. This case highlights CIH
Area of Science:
- Pediatric Radiology
- Skeletal Dysplasias
- Neuroimaging
Background:
- Chronic idiopathic hyperphosphatasia (CIH) is a rare generalized skeletal dysplasia affecting children.
- Understanding CIH's impact on cranial development is crucial for early diagnosis and management.
Observation:
- A 5-year-old girl with severe infantile CIH presented with clinical, radiographic, and cerebral MR findings.
- Despite cranial enlargement, significant intracranial space reduction and brain compression were observed.
Findings:
- Cerebral MR revealed a Chiari I malformation and marked reduction of the skull base and vault.
- Normal dural venous sinus flow, absence of hydrocephalus, and no cranial nerve involvement were noted.
Implications:
- This case confirms that CIH significantly affects the skull base and vault in pediatric patients.
- Cranial MR imaging is essential for diagnosing and characterizing CIH-related skeletal abnormalities.
- Further research into CIH's neurodevelopmental impact is warranted.
Abstract:
Chronic idiopathic hyperphosphatasia (CIH) is a rare generalised skeletal dysplasia in childhood. The clinical, radiographic and cerebral MR findings in a 5-year-old girl with the severe infantile form of CIH are reported. In spite of cranial enlargement, the intracranial space and the skull base were markedly reduced, the whole brain was compressed and a Chiari I malformation was present. Normal flow in the dural venous sinuses was documented. The patient showed no detectable cranial nerve involvement or hydrocephalus. Cranial MR in this patient enabled us to confirm that CIH involves the skull base and vault.