Neuroregression as an initial manifestation in a toddler with acquired pernicious anaemia

Abstract

SUMMARYThe aetiology spectrum for neuroregression in infants and toddlers is diverse. Vitamin B 12 deficiency-mediated neuroregression is less commonly considered as a differential. Prevalence of pernicious anaemia in the general population is 0.1% and is extremely rare in children. We describe a 35-month-old toddler with neuroregression, seizures, coarse tremors, bleating cry and neuropathy. His clinical symptomatology mimicked grey matter degenerative illness and infantile tremor syndrome, a nutritional deficiency-mediated movement disorder. His vitamin B 12 level was low and serum homocysteine level was elevated. Haematological manifestations were not overt and anti-intrinsic factor antibody was positive. With parenteral vitamin B 12 therapy, there was a dramatic response with clinical and laboratory translation. This report emphasises the need for a high index of suspicion and screening for markers of vitamin B 12 deficiency in all children with unexplained acute or subacute neuroregression, seizures and movement disorders as it is potentially reversible. BACKGROUND

A tale of treatable infantile neuroregression and diagnostic dilemma with glutaric aciduria type I

“…[ 18 ] However, there are reports of resolution of clinical symptoms after Vitamin B12 supplementation. [ 20 21 ]…”

A rare case of neuro regression in an Indian child: beyond the realm of nervous system

“…The aetiology spectrum for neuro regression in infants and toddlers is diverse. 1 In clinical practice, whenever we encounter a child with dysmorphism and developmental delay or regression, we are prompted to think of a disorder of nervous system. Rarely, a disorder primarily involving a system other than nervous system could be responsible for same phenotypic presentation.…”