HEADACHES IN THE ACNED FACE
Résumé
Background: Tuberous Sclerosis Complex is a rare phakomatosis associated with systemic manifestations. Neurological manifestations include cortical tubers, subependymal nodules and subependymal giant cell astrocytomas (SEGA). The neurological manifestations confer a lot of morbidity and mortality. Other than surgery and medical therapy, there are novel management techniques that warrant further discussion. Case Description: 15-year-old boy from Nairobi County presented with headaches for 2 years that was worse in the early morning. Gradual in onset but insidious in character. Patient had an episode of projectile vomiting not associated with nausea 2 months ago. This episode was accompanied by a grand mal seizure. On examination, adenoma sebaceum, confetti lesions, ashleaf spots and shagreen patch were noted on the skin. Intraoral gum angiofibromas and periungual fibromas noted. Imaging findings noted a heterogenous intraventricular lesion centered on the foramen of Monro with marked ventriculomegally. The mass was predominantly in the left lateral ventricle but extended to the right lateral ventricle and the third ventricle. Marked periventricular seepage noted in the frontal lobe. A diagnosis of subependymal giant cell astrocytoma made in a patient with Tuberous Sclerosis Complex. Management entailed renal ultrasound, renal function tests,echocardiogram, electrocardiogram and a full blood count. The patient is scheduled to have a ventriculoperitoneal shunt insertion with subsequent craniotomy for the SEGA resection. Discussion: Tuberous Sclerosis Complex patients present with systemic clinical manifestations. Cardiac, renal, pulmonary, ophthalmologic, cutaneous, and neurologic manifestations occur. Neurologic manifestations include convulsions and mental retardation due to tubers on the cerebral cortex. However, SEGAs occur frequently in this population and can cause marked morbidity and mortality. This case presents an opportunity to deliberate on the use of mTOR inhibitors Everolimus and in TSC patients with neurologic manifestations.
