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A 9‐year‐old boy with severe motor and intellectual disabilities and prolonged abdominal distension

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(Fig. 1). The antenatal history of her mother was uneventful. Systemic evaluation including cardiological, hearing, ophthalmological and haematological work-up did not reveal any abnormality. Routine laboratory investigations were non-contributory. Toxoplasmosis,… Click to show full abstract

(Fig. 1). The antenatal history of her mother was uneventful. Systemic evaluation including cardiological, hearing, ophthalmological and haematological work-up did not reveal any abnormality. Routine laboratory investigations were non-contributory. Toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus (TORCH) screen was negative. A histopathological examination was planned, but the lesions disappeared within 2 weeks of presentation. What is the diagnosis? (Answer on page 365)

Keywords: boy severe; motor intellectual; intellectual disabilities; old boy; year old; severe motor

Journal Title: Journal of Paediatrics and Child Health
Year Published: 2022

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