Noonan syndrome is a multisystem genetic disorder associated with skeletal abnormalities and an increased risk of certain neoplasms. However, intraosseous calvarial haematoma has not been previously reported in this population. We present a 14-year-old female with Noonan syndrome who developed progressively enlarging calvarial lesions associated with headache, visual disturbance, and tinnitus....
✦ The floor
Discussion
Signed responses from readers of the wire.
No actionable change for audiology practice; this case report concerns a rare paediatric neurosurgical finding with negligible direct audiology relevance.
Awareness that Noonan syndrome can present with unusual skull lesions may marginally inform audiologists who encounter this syndrome, as some associated features can include hearing loss.
- 01Pediatric case of intraosseous calvarial haematoma in a child with Noonan syndrome is described.
- 02The lesion mimicked a skull tumour on imaging, posing a diagnostic challenge.
- 03Noonan syndrome is a multisystem genetic disorder; direct audiology relevance is minimal.
- 04Case report level evidence; findings are not generalisable.
- 05No hearing-specific outcomes or interventions are discussed.
Intraosseous calvarial haematoma can radiologically mimic a skull tumour in paediatric patients with Noonan syndrome.
studypartially supported- PMID
- 42639270
- DOI
- 10.1093/jscr/rjag743.
- Journal
- Journal of Surgical Case Reports
- Publication type
- case_report
- Evidence level
- 4
- Sample size
- 1
- Population
- A single paediatric patient with Noonan syndrome presenting with an intraosseous calvarial haematoma.
- Intervention
- Diagnostic workup and management of intraosseous calvarial haematoma
Primary outcomes
Accurate diagnosis distinguishing haematoma from skull tumour; Clinical outcomes following management