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Case Reports in Pathology
Volume 2015, Article ID 786836, 5 pages
http://dx.doi.org/10.1155/2015/786836
Case Report

A Histologically Diagnosed Case with Infantile Osteopetrosis Complicated by Hypopituitarism

1Department of Pathology, Dr. Behcet Uz Children’s Hospital, Alsancak, 35220 Izmir, Turkey
2Department of Neonatology, Dr. Behcet Uz Children’s Hospital, Alsancak, 35220 Izmir, Turkey
3Department of Pediatric Endocrinology and Metabolism, Dr. Behcet Uz Children’s Hospital, Alsancak, 35220 Izmir, Turkey
4Department of Radiology, Dr. Behcet Uz Children’s Hospital, Alsancak, 35220 Izmir, Turkey

Received 22 February 2015; Revised 1 September 2015; Accepted 5 October 2015

Academic Editor: Dhanpat Jain

Copyright © 2015 Gulden Diniz et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Malignant infantile osteopetrosis is a rarely seen severe disorder which appears early in life with general sclerosis of the skeleton. It is caused by functionally defective osteoclasts which fail to resorb bone. Affected infants can exhibit a wide spectrum of clinical manifestations including impaired hematopoiesis, hepatosplenomegaly, visual impairment, and hypocalcemia. With the exception of secondary hyperparathyroidism, involvement of the endocrine system seems to be quite rare. Hypopituitarism is defined as underproduction of the growth hormone in combination with deficiencies of other pituitary hormones. Any lesion that damages hypothalamus, pituitary stalk, or anterior pituitary can cause secondary hypopituitarism. In this report, we presented a rare combination of malignant infantile osteopetrosis and secondary hypopituitarism in a newborn who presented predominantly with endocrinological symptoms. This is the first case report of malignant infantile osteopetrosis accompanied by hypopituitarism secondary to sclerosis of the sella turcica. On the other hand, this is a very interesting case which was diagnosed based on histological examination of bone marrow biopsy specimens despite lack of any clinical suspicion.