Spastic paraplegia in a 4-year-old boy.

摘要

A 4-year old boy was brought for evaluation of inability to walk, delayed speech, and diy scaly lesions on his trunk. He was the first child of a non-consanguineous marriage, born at term, with no perinatal complications. Diffuse scaling of skin was noticed at 2 months of age. His milestones were delayed. He had achieved a social smile at 6 months, head holding at 9 months, and was sitting at 2 years. Progressively increasing stiffness and scissoring of the lower limbs had been noticed since 1 year of age. There was no history of seizures, vision or hearing problems. Family history was not significant.On examination, he had normal facies. Skin examination revealed diffuse, dry, scaly lesions on the trunk and extremities (Fig. 1). Neurological examination demonstrated weakness and spasticity in both lower limbs, brisk deep tendon reflexes in the upper and lower limbs, ankle clonus and extensor plantar responses. His fundus examination was normal. Systemic examination was unremarkable. MRI of the brain (Fig. 2) showed bilateral symmetrical periventricular white matter signal abnormalities with sparing of the subcortical U fibres.