Case reporl 110

Neonatal Primary Hyperparathyroidism A Case Report and Review of the Literature ]. W. Blair, R. Carachi Royal Hospital for Siek Children, Yorkhill, Glasgow

Primary Hyperparathyroidism in the neonate is exceptionally rare and is almost invariably fatal unless a prompt diagnosis is made and urgent surgical intervention instituted. The first case was reported in 1947 by Prat et al (30) and since then 35 cases have been published. The true number is probably greater due to the diagnosis being missed both clinically and at autopsy and it has been suggested as a possible contributor to a small number of cases of the Sudden Infant Death Syndrome (17). The authors report on a case presenting in a female neonate, review the world literature and discuss the clinical manifestations, investigators findings and the management options available.

Keywords Neonatal primary hyperparathyroidism Familial hypocalciuric hypercalcaemia - Parathyroidectomy and autotransplantation

Resume L'hyperparathyroldisme primaire chez le nouveau-ne est exceptionnellement rare et presque toujours fatal a moins d'un diagnostic tres rapide et d'une intervention chirurgicale immediate. Le premier cas a ete rapporte en 1947 par Prat et coll.; depuis 35 cas ont ete publies. Le nombre exact est probablement plus important car le diagnostic peut etre ignore cliniquement et a l'autopsie. Ceci est particulierement vrai lorsqu'il s'agit par exemple d'une mort subite du nouveau-ne.

Case report The baby presented at four days of age with a history of poor feeding since birth. Initial examination displayed a reluctance to suck, generalised hypotonia and sluggish reflexes. Blood biochemistry revealed a serum calcium level of 4.1 mmoVI (ref. range; 2.2-2.53 mmoVl), serum phosphorus was 0.8 mmoVl (ref. range; 1.2-1.7 mmoVl)

Received September 19, 1990 Eur J Pediatr Surg 1 (1991) 110-114 Hippokrates Verlag Stuttgart . Masson Editeur Paris

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Les auteurs presentent un cas d'hyperparathyroidisme primaire chez un nouveau-ne du sexe feminin et presentent une revue de la litterature internationale sur ce sujet. Mols-eIes Hyperparathyroidie primaire neo-natal Hypercalcemie hypocalciurie familiale - Parathyroidectomie - Autotransplantation

Zusammenfassung Der primäre Hyperparathyreoidismus beim Neugeborenen ist eine außerordentlich seltene Erkrankung mit ernster Prognose, wenn nicht die Diagnose schnell gestellt und eine operative Therapie eingeleitet wird. Der erste Fall wurde 1947 von Pratt et al publiziert. Seitdem sind 35 Fälle veröffentlicht worden. Wahrscheinlich liegt die Zahl der Erkrankungen jedoch höher, da nicht selten die Diagnose erst bei der Autopsie gestellt wird. So beispielsweise, wenn plötzlicher Kindstod eingetreten ist. Die Autoren stellen einen Fall von primärem Hyperparathyreoidismus bei einem weiblichen Neugeborenen vor und geben eine Übersicht über die internationale Literatur. Schlüsselwörter Primärer Hyperparathyreoidismus - Neugeborene - Hypokalziurie - Hyperkalzämie - Parathyreoidektomie mit Autotransplantation

and the alkaline phosphatase was normal. Maternal blood chemistry was normal with no history of familial disease. No information was available on the father. Over the following days the calcium rose progressively to a level of 8.0 mmoVI and on day ten the baby suffered episodes of apnoea and bradycardia. Calcitonin therapy did reduce the calcium level to 3.6 mmoVI but the baby remained symptomatic (Fig. 1). A skeletal survey revealed grossly diminished bone density (Fig. 2). A diagnosis of primary hyperparathyroidism was made and later confirmed by parathyroid hormone assay. At fourteen days of age the baby underwent subtotal parathyroidectomy. Three enlarged glands measuring between 3 and 5 mm each were excised leaving the right inferior gland, measuring 1 mm, in situ. Histological examination revealed diffuse hyperplasia in all three excised glands (Fig. 3). Post-operatively the

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