Persistent hypercalcemia mimicking hypophosphatasia after discontinuation of a ketogenic diet: a case report

J Pediatr Endocrinol Metab. 2023 Oct 5;36(11):1109-1113. doi: 10.1515/jpem-2023-0304. Print 2023 Nov 27.

Abstract

Objectives: Hypercalcemia has been reported as an uncommon complication of the ketogenic diet (KD). Here we present a toddler whose hypercalcemia persisted for 2 months after stopping the KD.

Case presentation: A 2 year 11-month-old child with global developmental delay, infantile spasms, neuromuscular weakness with limited mobility, tracheostomy and ventilator dependence, and oropharyngeal dysphagia with G-tube dependence presented with hypercalcemia in the setting of recurrent vomiting. At presentation, the patient was adherent to a KD and taking topiramate since infancy for intractable seizures. His laboratory parameters at presentation showed hypercalcemia (11.9 mg/dL), hypercalciuria, acute renal failure, low alkaline phosphatase (76 IU/L [110-302 IU/L]), parathyroid hormone (PTH) <6 pg/mL (18-80 pg/mL), normal thyroid function, cortisol and vitamin D level. The patient's hypercalcemia persisted post-discontinuation of the KD and topiramate. PTH-related protein was mildly elevated at 15.3 pmol/L. Follow-up laboratory and imaging studies ruled out malignancy. He was managed with calcitonin 4 u/kg/dose Q12H × 1 day and 8 u/kg/dose Q8H × 1 day, hydration and low-calcium formula. Post-discontinuation of the KD, normalization of alkaline phosphatase levels preceded the normalization of calcium on day 55 and PTH on day 85.

Conclusions: Hypercalcemia may persist for an extended period after weaning from a KD; lab parameters may mimic that of hypophosphatasia as previously described in the literature. Normalization of alkaline phosphatase, a marker of bone turnover, indicates recovery from the adynamic state induced by the KD and typically precedes the normalization of calcium and PTH.

Keywords: children; hypercalcemia; ketogenic diet; low alkaline phosphatase.

Publication types

  • Case Reports

MeSH terms

  • Alkaline Phosphatase
  • Calcium
  • Calcium, Dietary
  • Diet, Ketogenic* / adverse effects
  • Humans
  • Hypercalcemia* / diagnosis
  • Hypercalcemia* / etiology
  • Hypophosphatasia* / complications
  • Hypophosphatasia* / diagnosis
  • Infant
  • Male
  • Parathyroid Hormone
  • Topiramate / adverse effects

Substances

  • Calcium
  • Alkaline Phosphatase
  • Topiramate
  • Parathyroid Hormone
  • Calcium, Dietary