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A Histologically Diagnosed Case with Infantile Osteopetrosis Complicated by Hypopituitarism
Gulden Diniz1, Ozgur Olukman2, Sebnem Calkavur2
1Department of Pathology, Dr. Behcet Uz Children's Hospital, Alsancak, 35220 Izmir, Turkey.
Insights
Malignant infantile osteopetrosis, a rare bone disorder, can cause hypopituitarism due to sella turcica sclerosis. This case highlights a newborn diagnosed via bone marrow biopsy, presenting with endocrine symptoms.
Area of Science:
- Pediatric Endocrinology
- Pediatric Hematology
- Skeletal Dysplasias
Background:
- Malignant infantile osteopetrosis (MIO) is a severe genetic disorder characterized by defective osteoclast function and generalized skeletal sclerosis.
- Clinical manifestations of MIO typically include impaired hematopoiesis, hepatosplenomegaly, visual impairment, and hypocalcemia.
- Endocrine involvement in MIO is uncommon, with secondary hyperparathyroidism being the most frequent, while hypopituitarism is exceptionally rare.
Purpose of the Study:
- To report the first case of malignant infantile osteopetrosis associated with secondary hypopituitarism.
- To describe a unique presentation of MIO predominantly with endocrinological symptoms in a newborn.
- To highlight the diagnostic challenge and the importance of histological examination in suspected MIO cases.
Main Methods:
- Case report detailing a newborn with clinical symptoms suggestive of endocrine dysfunction.
- Diagnostic workup included bone marrow biopsy for histological examination.
- Radiological assessment to evaluate skeletal sclerosis and sella turcica involvement.
Main Results:
- The newborn presented with hypopituitarism, specifically growth hormone deficiency and other pituitary hormone deficiencies.
- Histological examination of bone marrow biopsy confirmed malignant infantile osteopetrosis.
- Sclerosis of the sella turcica was identified as the cause of secondary hypopituitarism, a previously unreported association.
Conclusions:
- This case represents the first documented instance of malignant infantile osteopetrosis co-occurring with hypopituitarism secondary to sella turcica sclerosis.
- Malignant infantile osteopetrosis can present with a broader spectrum of clinical manifestations, including rare endocrine complications.
- Histological bone marrow biopsy is crucial for diagnosing MIO, especially when clinical suspicion is low.
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.
