Tuberous sclerosis complex presenting as afebrile encephalopathy: Diverse etiology, unitary approach

Abstract

Background: Tuberous sclerosis complex (TSC) is a multisystem genetic disorder with a range of physical manifestations that require regular evaluation, surveillance, and management. Central nervous system manifestations are the major cause of morbidity and mortality in TSC patients. Encephalopathy, which may be due to multiple etiologies, maybe seen sometimes in these patients. Clinical Description: We are sharing a series of three cases, presenting to us within a 6-month period with encephalopathy, who were admitted and treated by us. Etiologies were identified in all three cases with variable spectrum from nonconvulsive status epilepticus to autistic regression to valproate-associated hyperammonemia. Management: All three patients admitted with us were treated as per clinical guidelines for respective etiologies. All patients respond well to treatment and were discharged and are under regular follow-up. Conclusion: There are various etiologies for encephalopathy in a child with TSC. Therefore, thorough history, examination, and investigations should be carried out in every child with TSC to find out the likely cause of encephalopathy, and treatment should be initiated according to the underlying cause.