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Background
Vitamin B12 deficiency is known to cause haematological and neurological disease. The risk of deficiency is more in vegans when compared with non-vegetarians. 1 Anaemia usually presents as easy fatigability and pallor with investigations showing moderate to severe anaemia or pancytopaenia, macrocytic red blood cells and hypersegmented neutrophils on peripheral smear. The neurological disease presents commonly with complaints of tingling sensation of extremities, weakness of lower limbs and features of subacute combined degeneration of cord. Atypical presentation in infants and children includes incidentally detected megaloblastic anaemia, ataxia, failure to thrive, neuroregression, psychiatric manifestations and developmental delay.
There is a lack of consensus on the management of vitamin B12 deficiency in children. Oral administration of cobalamin in large doses is preferred, even in the presence of defective intestinal absorption. Monthly intramuscular injection of cobalamin in adults has shown good disease control results. However, lack of compliance to treatment, either by oral or injectable, is a hindrance to efficient management.
We report this case to emphasise the atypical presentation of vitamin B12 deficiency as chronic jaundice associated with loss of weight, which mimicked chronic liver disease and also to highlight the importance of counselling to ensure drug compliance.
Case presentation
A 12-year-old girl presented with complaints of yellowish discolouration of eyes and palms and loss of appetite associated with weight loss for the past 6 months. She also reported easy fatigability for the past 2 weeks. She had no history of abdominal pain, pale stools or bone pain. She had no history of substance abuse, blood transfusions or drug intake. She attained menarche a year back and has had no menstrual complaints. Parents reported that she has been on a vegetarian diet for the past 2 years due to food faddism. Her birth history, developmental history and family history were unremarkable. She was moderately built, with a body mass index (BMI) of 14.6 kg/m2, and physical examination showed icterus, mild pallor, normal liver span and no splenomegaly. Respiratory, cardiovascular and central nervous system examination was essentially normal. The ophthalmic evaluation did not reveal Kayser-Fleischer rings.
Investigations
She was initially evaluated for jaundice. She had anaemia (haemoglobin: 9.4 g/dL; haematocrit: 28.3%), decreased red blood cell (RBC) count (2.37 × 1012/...