title: Dominantly inherited isolated hyperparathyroidism: a syndromic association?
abstract: Dominantly inherited isolated hyperparathyroidism (DIIH) is rare in childhood. It may be the first biochemical abnormality in the multiple endocrine neoplasia type I (MEN I) and type II (MEN II) syndromes. Its clinical course is usually asymptomatic or of low morbidity. Radiographic examination is most often normal. We describe six members of a family with distinctive phenotype and DIIH. Limited systemic symptoms and severe radiographic osteitis fibrosa cystica were further unusual features in this family. The diagnosis of DIIH was made only after a 9-year-old girl developed hypercalcaemic crisis after a pathological femoral fracture. Distinctive phenotype, unusual clinical course and unparalleled radiographic changes suggest a not yet described syndromic association.
authors.affiliation: Department of Radiology, Royal Alexandra Hospital for Children, Sydney, Australia.
authors.forename: K
authors.initials: K
authors.lastname: Kozlowski
authors.forename: A
authors.initials: A
authors.lastname: Czerminska-Kowalska
authors.forename: H
authors.initials: H
authors.lastname: Kulczycka
authors.forename: E
authors.initials: E
authors.lastname: Rowinska
authors.forename: E
authors.initials: E
authors.lastname: Pronicka
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D000328:Adult; D001254:Astrocytoma / Q000150:complications / Q000000981:diagnostic imaging / Q000473:pathology; D001932:Brain Neoplasms / Q000150:complications / Q000000981:diagnostic imaging / Q000473:pathology; D002118:Calcium / Q000097:blood; D002648:Child; D005260:Female; D005264:Femoral Fractures / Q000000981:diagnostic imaging / Q000209:etiology / Q000601:surgery; D005500:Follow-Up Studies; D005598:Fractures, Spontaneous; D006801:Humans; D006934:Hypercalcemia / Q000097:blood / Q000150:complications; D006961:Hyperparathyroidism / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome; D014057:Tomography, X-Ray Computed
chemical_list: D002118:Calcium