A case of tuberous sclerosis presented with profound intellectual disability, intractable seizure, suspected abuse and Pica

Abstract

Background: Tuberous sclerosis complex is a neurocutaneous syndrome inherited as autosomal dominant manner. It presents with CNS, dermatological manifestations and other systemic involvement. Methods: A case of male adolescent of 13 years age who presented in tertiary care OPD with strong family history of intellectual disability. The history obtained from his parents and necssary investigation work up has been done. A multidisciplinary team examined the patient and some unique features has been obtained. Results: The uniqueness of the case is it presents with profound intellectual disability, there is difficult to treat epilepsy due to combination of complex partial seizure with secondary generalization and myoclonus, eating disorder in the form of pica has been noted, spreading leg infection raises the possibility of child abuse and neglect. Conclusions: The appropriate treatment approach lies in judicious history taking. Parental counseling, the safety of patient should get the priority. Medical management should be combined with behavioural therapy, parental therapy and psychosocial rehabilitation. Genetic testing is necessary and multidisciplinary approach is required by a team comprising of but not limited to psychiatrists, clinical psychologist, special educator, pediatrician, physician, surgeons, dermatologist and ophthalmologist.