Cavernous malformations of the central nervous system in children: presentation, treatment and outcome of 20 cases.

BACKGROUND: Cavernous malformations (CM) of the central nervous system are vascular malformations responsible for symptoms such as seizures, headache, and neurological deficits: 25% of cases already present in childhood.

MATERIAL AND METHODS: Retrospective study including all CMs of the central nervous system in childhood diagnosed in the period 1993-2008 in 3 paediatric hospitals in Switzerland, focusing on clinical manifestations, neuroimaging findings, treatment, and outcome.

RESULTS: 20 children (13 females) were diagnosed with CM, with an average age at presentation of 8.5 years (range 7 months-16 years). 17/20 presented with acute haemorrhage, 9/17 with seizures, 5/17 with focal neurological symptoms, and 3/17 with severe headache only. Localisation was supratentorial in 15/20, infratentorial in 2/20, supra- and infratentorial in 2/20, and spinal in 1 child. Five children had multiple CMs. Treatment was conservative in 10 cases and surgery was indicated in 10: for acute haemorrhage in 5; recurrent bleeding in 3; and epilepsy in 2. Follow-up after diagnosis was 0.5 years-10 years (mean 4 years), revealing neurological sequelae in 6 patients. The CM increased in size in 2 cases with an increase in number also in 1 of these.

CONCLUSIONS: We confirm that CMs in childhood mainly present with seizures, severe headache, or focal symptoms due to acute haemorrhage. During infancy they may appear as dynamic lesions increasing in size and/or number. The regular application of newer neuroimaging techniques such as susceptibility weighted imaging will detect more lesions but not necessarily resolve problems concerning optimum treatment.