DR. AYUSHI OJHA

DR. SYED FARAAZ HUSSAIN, DR. ANAMIKA PANDEY, DR. YOGYA REDDY

Abstract

Bilateral(B/L) cherry red spot in a child is usually indicative of diseases like metabolic storage disorder(MSD).We present the case of an 11 month old male child who came to the paediatrics department with high amplitude tremors and neuroregression. An ophthalmic reference was given to rule out presence of a cherry red spot to clinch the diagnosis of a MSD.The child had B/L cherry red spot, B/L sensorineural hearing loss, neuroregression and no organomegaly. Genetic studies to rule out Tay Sach’s disease and GM1 and GM2 gangliosidoses came out negative. A low level of vitamin B12 was found in both mother and child. Child was started on vitamin B12 and trihexyphenidyl. The child responded to it and a provisional diagnosis of Infantile Tremor Syndrome(ITS) was made. A repeat MRI after 3 months to look for reversal of cerebral atrophy is planned, to confirm the diagnosis of ITS. A rather atypical presentation, as cherry red spots have never been reported with a vitamin B12 deficiency.