Journal of Clinical and Diagnostic Research. 2022 Jul, Vol-16(7): SD01-SD03 1 1 DOI: 10.7860/JCDR/2022/55231.16560 Case Report Paediatrics Section Importance of Family History and Clinical Examination in Evaluation of Paediatric Brain Tumours- A Unique Case Report of Tuberous Sclerosis CASE REPORT A 4-year-old male child 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 The headache was bilateral, frontal and occipital in location, initially intermittent but continuous since five days prior to admission. Vomiting was non bilious, projectile, initially once per week, increasing to twice a day since two days prior to admission, headache temporarily decreasing following vomiting. Weakness of the right side of the body was progressive, first noticed by the school teacher due to the child’s inability to lift his arm above the head. This gradually progressed over the next 15 days to limping while walking, difficulty in getting up from squatting position, dragging of right foot while walking and finally inability to sit up from sleeping position. There was no history suggestive of speech, sensory, cerebellar, bladder or bowel deficits. The child had no history of convulsions, blurring of vision or worsening of sensorium. There was neither history of tuberculosis in the child or family members, nor any history of trauma or fever. The child’s mother had history of occasional focal seizures since childhood and was on tablet carbamazepine for the same, with seizures being well controlled. She also had history of two spontaneous abortions, both in the third month of gestation. The child’s perinatal history was uneventful and he was developmentally appropriate for his age. Physical examination revealed right-sided hemiparesis with right-sided facial palsy (upper motor neuron type) and signs of raised intracranial tension (papilloedema and hypertension). Neurocutaneous markers were suggestive of tuberous sclerosis - multiple ash leaf macules over the trunk [Table/Fig-1] and dental pits [Table/Fig-2]. The child’s mother who was a case of focal seizures since childhood, had adenoma sebaceum over the face [Table/ Fig-3] and her Magnetic Resonance Imaging (MRI) brain suggested tuberous sclerosis [Table/Fig-4]. Preoperative haematological investigations of the child were normal. ALHAD MULKALWAR 1 , SHRUTI MONDKAR 2 , MUKESH AGRAWAL 3 Keywords: Astrocytoma, Hydrocephalus, Neuroimaging, Subependymal calcification 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. [Table/Fig-1]: Multiple hypomelanotic ash leaf macules on child’s trunk. [Table/Fig-2]: Multiple dental pits. (Images from left to right). [Table/Fig-3]: Child’s mother depicting adenoma sebaceum on the face (arrow). [Table/Fig-4]: MRI brain of the child’s mother showing subependymal nodules (marked with red circles). (Images from left to right). Neuroimaging {Computed Tomography (CT) scan and MRI} revealed an 8×5.5×7 cm sized tumour arising from the third ventricle and extending into the left lateral ventricle, distending both lateral ventricles (left >right) with deviation of septum pellucidum to the right by 1.5cm; the child was diagnosed to have tuberous sclerosis with Subependymal Giant cell Astrocytoma (SEGA) with secondary hydrocephalus [Table/Fig-5,6] The child underwent resection of the intraventricular tumour on day 8 of admission. Histopathology of the excised tumour confirmed the diagnosis of SEGA [Table/Fig-7].