Endocrine Abstracts

A 30-year-old Eritrean female presented with a 1 month history of nausea and vomiting, with 15 kg weight loss but no bowel disturbance. Past medical history included an open cholecystectomy. There was no family history of mineral or bone disorders. She denied any prescribed/over-counter medication and abstained from alcohol. Examination revealed marked cachexia (BMI 16.1 kg/m²). ECG revealed ST depression and T wave inversion.

Investigations indicated profound mineral deficiency (Na 135 mmol/l, K 2.6 mmol/l, phosphate 0.35 mmol/l, corrected calcium 2.09 mmol/l, magnesium 0.66 mmol/l), severe vitamin D deficiency (<4.0 μg/l) with secondary hyperparathyroidism (PTH 112 ng/l, 10–70 ng/l). Liver, renal, thyroid function and vitamin A levels were normal. The presence of a metabolic acidosis (pH 7.28, bicarbonate 19 mmol/l) with a urinary pH of 6.0, suggested a diagnosis of Type 2 renal tubular acidosis due to profound vitamin D deficiency.

Anti-tissue transglutaminase, faecal elastase and calprotectin levels were normal as was a porphyria screen. Liver ultrasound, abdominal CT, oesophogastroduodenoscopy and video capsule enteroscopy were all normal. Therefore no malabsorptive cause of vitamin D deficiency was found.

She initially declined all forms of vitamin and mineral replacement. She subsequently developed acute confusion, visual disturbance with bilateral nystagmus and ataxia. Acute Wernicke–Korsakoff syndrome was suspected. Symptoms resolved after treatment with i.v. thiamine, i.m. ergocalciferol, and calcium supplementation. Brain MRI demonstrated abnormal bilateral T2 hyperintensity of the mamillary bodies, periaqueductal gray matter, medial thalami and inferior cerebellar peduncle in keeping with Wernicke’s encephalopathy. Psychiatric assessment did not detect a formal eating disorder but did reveal dietary restriction in the context of anxiety from refusal of asylum status.

This unusual case of profound vitamin D and B1 deficiency illustrates the devastating effects of dietary restriction and malnutrition.