Vitamin D deficiency rickets presenting as pseudotumor cerebri
A five-month-old female infant presented with vomiting, bulging fontanelle, irritability, and refusal to feed, since one day. There was no history of fever, convulsion, bowel/bladder complaints, drug intake, rash or otorrhea. She was born of a non-consanguineous marriage and her birth, family, and developmental history were normal. She was exclusively breastfed. On examination, she was hemodynamically stable. Her weight, head circumference, and length were normal. She had chest beading, wide wrist, and a bulging wide anterior fontanelle. The fundus examination revealed early papilledema. She had mild hepatosplenomegaly due to visceroptosis. The liver was palpable 3 cm below the costal margin in the midclavicular line, with a span of 5.5 cm. The rest of the systemic examination was normal. Investigations revealed a normal hemogram. Her arterial blood gases, renal function, and serum electrolytes were normal. Serum calcium was 6.1 mg/dL, inorganic phosphorous 2.5 mg/dL, alkaline phosphatase 1084 IU/L, serum parathormone 430 pg/ml (N 12-72), 25-OH vitamin D 3.03 ng/ml (N 4012-100). The cerebrospinal fluid examination (CSF) was normal with a high opening pressure of 330 mmH2O. Her computed tomography scan was normal. After lumbar puncture the anterior fontanelle came at level. The patient's mother had not taken calcium supplements during the antenatal period. She was a vegetarian and had no symptoms or signs of vitamin D deficiency. Her serum calcium was 8.2 mg/dL, inorganic phosphorous 3.3 mg/dL, and alkaline phosphatase 787 IU/L. Her vitamin D levels and parathormone assay could not be done due to financial constraints. A final diagnosis of pseudotumor cerebri due to vitamin D deficiency was made. The patient was started on acetazolamide (15 mg/kg/day), calcitriol sachets, and calcium supplements. She became asymptomatic in three days and was discharged. On follow up after a year, she is asymptomatic and well.