title: Familial cerebral cavernous haemangioma diagnosed in an infant with a rapidly growing cerebral lesion.
abstract: Cavernous haemangiomas of the central nervous system are vascular malformations best imaged by MRI. They may present at any age, but to our knowledge only 39 cases in the first year of life have previously been reported. A familial form has been described and some of the underlying genetic mutations have recently been discovered. We present the clinical features and serial MRI findings of an 8-week-old boy who presented with subacute intracranial haemorrhage followed by rapid growth of a surgically proven cavernous haemangioma, mimicking a tumour. He also developed new lesions. A strong family history of neurological disease was elucidated. A familial form of cavernous haemangioma was confirmed by identification of a KRIT 1 gene mutation and cavernous haemangiomas in the patient and other family members. We stress the importance of considering cavernous haemangiomas in the context of intracerebral haemorrhage and in the differential diagnosis of rapidly growing lesions in this age group. The family history is also important in screening for familial disease.
authors.affiliation: Department of Medical Imaging, Sydney Children's Hospital, Prince of Wales Hospital, Sydney, NSW, Australia. bernard.ng@sesiahs.health.nsw.gov.au
authors.forename: B H K
authors.initials: BH
authors.lastname: Ng
authors.forename: E
authors.initials: E
authors.lastname: Mulyadi
authors.forename: J K
authors.initials: JK
authors.lastname: Pereira
authors.forename: S
authors.initials: S
authors.lastname: Ghedia
authors.forename: J
authors.initials: J
authors.lastname: Pinner
authors.forename: D
authors.initials: D
authors.lastname: Mowat
authors.forename: M
authors.initials: M
authors.lastname: Vonau
mesh_terms: D002528:Cerebellar Neoplasms / Q000175:diagnosis; D003937:Diagnosis, Differential; D020786:Hemangioma, Cavernous, Central Nervous System / Q000175:diagnosis* / Q000235:genetics* / Q000601:surgery; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D010375:Pedigree