A Histologically Diagnosed Case with Infantile Osteopetrosis Complicated by Hypopituitarism
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 impai...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2015-01-01
|
| Series: | Case Reports in Pathology |
| Online Access: | http://dx.doi.org/10.1155/2015/786836 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849683969265631232 |
|---|---|
| author | Gulden Diniz Ozgur Olukman Sebnem Calkavur Muammer Buyukinan Canan Altay |
| author_facet | Gulden Diniz Ozgur Olukman Sebnem Calkavur Muammer Buyukinan Canan Altay |
| author_sort | Gulden Diniz |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-cbbc2d277eb644bdb5ce4c9690ff6bc8 |
| institution | DOAJ |
| issn | 2090-6781 2090-679X |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pathology |
| spelling | doaj-art-cbbc2d277eb644bdb5ce4c9690ff6bc82025-08-20T03:23:37ZengWileyCase Reports in Pathology2090-67812090-679X2015-01-01201510.1155/2015/786836786836A Histologically Diagnosed Case with Infantile Osteopetrosis Complicated by HypopituitarismGulden Diniz0Ozgur Olukman1Sebnem Calkavur2Muammer Buyukinan3Canan Altay4Department of Pathology, Dr. Behcet Uz Children’s Hospital, Alsancak, 35220 Izmir, TurkeyDepartment of Neonatology, Dr. Behcet Uz Children’s Hospital, Alsancak, 35220 Izmir, TurkeyDepartment of Neonatology, Dr. Behcet Uz Children’s Hospital, Alsancak, 35220 Izmir, TurkeyDepartment of Pediatric Endocrinology and Metabolism, Dr. Behcet Uz Children’s Hospital, Alsancak, 35220 Izmir, TurkeyDepartment of Radiology, Dr. Behcet Uz Children’s Hospital, Alsancak, 35220 Izmir, TurkeyMalignant 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.http://dx.doi.org/10.1155/2015/786836 |
| spellingShingle | Gulden Diniz Ozgur Olukman Sebnem Calkavur Muammer Buyukinan Canan Altay A Histologically Diagnosed Case with Infantile Osteopetrosis Complicated by Hypopituitarism Case Reports in Pathology |
| title | A Histologically Diagnosed Case with Infantile Osteopetrosis Complicated by Hypopituitarism |
| title_full | A Histologically Diagnosed Case with Infantile Osteopetrosis Complicated by Hypopituitarism |
| title_fullStr | A Histologically Diagnosed Case with Infantile Osteopetrosis Complicated by Hypopituitarism |
| title_full_unstemmed | A Histologically Diagnosed Case with Infantile Osteopetrosis Complicated by Hypopituitarism |
| title_short | A Histologically Diagnosed Case with Infantile Osteopetrosis Complicated by Hypopituitarism |
| title_sort | histologically diagnosed case with infantile osteopetrosis complicated by hypopituitarism |
| url | http://dx.doi.org/10.1155/2015/786836 |
| work_keys_str_mv | AT guldendiniz ahistologicallydiagnosedcasewithinfantileosteopetrosiscomplicatedbyhypopituitarism AT ozgurolukman ahistologicallydiagnosedcasewithinfantileosteopetrosiscomplicatedbyhypopituitarism AT sebnemcalkavur ahistologicallydiagnosedcasewithinfantileosteopetrosiscomplicatedbyhypopituitarism AT muammerbuyukinan ahistologicallydiagnosedcasewithinfantileosteopetrosiscomplicatedbyhypopituitarism AT cananaltay ahistologicallydiagnosedcasewithinfantileosteopetrosiscomplicatedbyhypopituitarism AT guldendiniz histologicallydiagnosedcasewithinfantileosteopetrosiscomplicatedbyhypopituitarism AT ozgurolukman histologicallydiagnosedcasewithinfantileosteopetrosiscomplicatedbyhypopituitarism AT sebnemcalkavur histologicallydiagnosedcasewithinfantileosteopetrosiscomplicatedbyhypopituitarism AT muammerbuyukinan histologicallydiagnosedcasewithinfantileosteopetrosiscomplicatedbyhypopituitarism AT cananaltay histologicallydiagnosedcasewithinfantileosteopetrosiscomplicatedbyhypopituitarism |