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.