Case 21-2024: A 10-Month-Old Boy with Vomiting and Hypercalcemia

N Engl J Med. 2024 Jul 11;391(2):167-176. doi: 10.1056/NEJMcpc2402485.

Authors

Christina Jacobsen¹, Harald Jüppner¹, Deborah M Mitchell¹

Affiliation

¹ From the Department of Pediatrics, Boston Children's Hospital (C.J.), the Department of Pediatrics, Massachusetts General Hospital (D.M.M., H.J.), and the Department of Pediatrics, Harvard Medical School (C.J., D.M.M., H.J.) - all in Boston.

PMID: 38986061
DOI: 10.1056/NEJMcpc2402485

No abstract available

Publication types

Case Reports
Clinical Conference

MeSH terms

Calcium / blood
Diagnosis, Differential
Genetic Diseases, Inborn
Humans
Hypercalcemia* / blood
Hypercalcemia* / genetics
Hypercalcemia* / therapy
Infant
Loss of Function Mutation
Male
Nephrocalcinosis* / blood
Nephrocalcinosis* / genetics
Nephrocalcinosis* / therapy
Vitamin D3 24-Hydroxylase* / deficiency
Vitamin D3 24-Hydroxylase* / genetics
Vomiting* / etiology
Weight Loss

Substances

Calcium
CYP24A1 protein, human
Vitamin D3 24-Hydroxylase