Tuberous sclerosis: A rare cause of seizure in Nigeria.

Abstract

Tuberous sclerosis is a rare genetic multisystem disorder that is typically apparent shortly after birth. Dermatologic manifestations may be the only clues to the diagnosis of the disorder, which is also marked by childhood seizures and mental retardation. The aim of this report is to present a twelve year old boy with tuberous sclerosis. A review of the case records of a child with angiofibromas of the face and neck and the relevant literature. An eleven year old primary two pupil of Ijaw tribe, southern Nigeria, presented with recurrent afebrile, generalized tonic- clonic seizures from nine months of age, hyperpigmented papulonodular eruptions on the face and neck with some hypo pigmented patches at the back for six years. He also had a growth on the right index finger of six years duration. There was associated learning disabilities and poor school performance, with sudden outburst of mood swings ranging from laughter to anger. Speech was delayed. He has been on Carbamazepine for the past two years and is seizure free. There was no history of similar illness in the family. Physical examination showed that he had labile mood with presence of hyperpigmented papulonodular (angiofibromas) eruptions on the malar area of the face and neck. There were also associated hypomelanotic macules on the back, bony cyst on the right index finger. He also had bilateral undescended testis. All other systems were essentially normal. Cranial computed tomography showed multiple hyperdense non enhancing nodules in the walls of the lateral ventricles with a hyperdense nodule in the subcortical area of the parietal lobe of the left cerebrum. Multiple areas of non enhancing hypodensities were also seen in the cortical white matter of the frontal and parietal lobes bilaterally with associated thickening of the adjacent gyri. He is being managed by a team of a paediatric neurologist, surgeon, speech therapist and a dermatologist. He is regular at follow up clinic. Tuberous Sclerosis though a rare condition, once diagnosed needs multidisciplinary management to improve the quality of life of the patient.

Key words: Tuberous sclerosis, seizure, skin rashes.