Importance of Family History and Clinical Examination in Evaluation of Paediatric Brain Tumours- A Unique Case Report of Tuberous Sclerosis

Abstract

Tuberous sclerosis complex is an autosomal dominant neurocutaneous disorder characterized by the development of hamartomas in various tissues. This report describes the case of a 4-year-old male child who was admitted to the Paediatrics Ward with a history of headache and vomiting since two months and weakness in the right upper limb and right lower limb since 15 days. Examination revealed right-sided hemiparesis with facial involvement and signs of raised intracranial tension (papilloedema and hypertension). General examination revealed neurocutaneous markers such as multiple ash leaf macules over forehead, chest, abdomen and dental pits, which were suggestive of tuberous sclerosis. The child’s mother was a known case of focal seizures since childhood, had adenoma sebaceum and Magnetic Resonance Imaging (MRI) brain showed subependymal nodules-suggestive of tuberous sclerosis. Based on neuroimaging {Computed Tomography (CT) and MRI} the child was diagnosed to be suffering from tuberous sclerosis with Subependymal Giant cell Astrocytoma (SEGA) with secondary hydrocephalus. The child underwent resection of the intraventricular tumour (SEGA) with good neurological recovery and is currently asymptomatic. Histopathology confirmed the diagnosis of SEGA. This case emphasizes on the significance of a detailed clinical examination and family history which aided neuroimaging in making a diagnosis of tuberous sclerosis in a child who would otherwise be diagnosed only as a case of astrocytoma.