Cargando…
A Rare Case of Malignant Infantile Osteopetrosis Presenting as Frontal Lobe Hemorrhage
Osteopetrosis comprises a group of rare inherited disorders of the bones characterized by a common radiographic finding of increased bone thickness. The disorders vary genetically as well as clinically, and range in severity from mild manifestations to fatal complications based on the type of the di...
Autores principales: | , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7430660/ https://www.ncbi.nlm.nih.gov/pubmed/32821582 http://dx.doi.org/10.7759/cureus.9234 |
_version_ | 1783571463343702016 |
---|---|
author | Ali, Aiman Bin Arif, Taha Khan, Sulhera Bakhtawar Fatima, Fasiha Abbasi, Rabia Sehar |
author_facet | Ali, Aiman Bin Arif, Taha Khan, Sulhera Bakhtawar Fatima, Fasiha Abbasi, Rabia Sehar |
author_sort | Ali, Aiman |
collection | PubMed |
description | Osteopetrosis comprises a group of rare inherited disorders of the bones characterized by a common radiographic finding of increased bone thickness. The disorders vary genetically as well as clinically, and range in severity from mild manifestations to fatal complications based on the type of the disorder. Malignant infantile osteopetrosis (MIOP) is a less common, more severe form of the disease with most affected individuals surviving up to only the first few years of life if left untreated. We present a previously diagnosed case of the malignant infantile type who was brought to our attention for convulsions. Antiepileptic medications were started along with supportive therapy. CT scan revealed a large frontal lobe hemorrhage, which was suspected as a possible cause of the seizures, other than the progressively worsening hypocalcemia. Laboratory investigations also revealed pancytopenia and blood cultures positive for staphylococci, which were treated accordingly. Genetic testing and hematopoietic stem cell transplantation could not be performed due to financial constraints and the rapidly deteriorating condition of the patient. Unfortunately, the baby expired two weeks from the day of admission. This case highlights a rare and grave clinical manifestation of MIOP and brings to attention the significance of bone marrow transplantation as the only curative therapy of the disease. |
format | Online Article Text |
id | pubmed-7430660 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-74306602020-08-18 A Rare Case of Malignant Infantile Osteopetrosis Presenting as Frontal Lobe Hemorrhage Ali, Aiman Bin Arif, Taha Khan, Sulhera Bakhtawar Fatima, Fasiha Abbasi, Rabia Sehar Cureus Genetics Osteopetrosis comprises a group of rare inherited disorders of the bones characterized by a common radiographic finding of increased bone thickness. The disorders vary genetically as well as clinically, and range in severity from mild manifestations to fatal complications based on the type of the disorder. Malignant infantile osteopetrosis (MIOP) is a less common, more severe form of the disease with most affected individuals surviving up to only the first few years of life if left untreated. We present a previously diagnosed case of the malignant infantile type who was brought to our attention for convulsions. Antiepileptic medications were started along with supportive therapy. CT scan revealed a large frontal lobe hemorrhage, which was suspected as a possible cause of the seizures, other than the progressively worsening hypocalcemia. Laboratory investigations also revealed pancytopenia and blood cultures positive for staphylococci, which were treated accordingly. Genetic testing and hematopoietic stem cell transplantation could not be performed due to financial constraints and the rapidly deteriorating condition of the patient. Unfortunately, the baby expired two weeks from the day of admission. This case highlights a rare and grave clinical manifestation of MIOP and brings to attention the significance of bone marrow transplantation as the only curative therapy of the disease. Cureus 2020-07-17 /pmc/articles/PMC7430660/ /pubmed/32821582 http://dx.doi.org/10.7759/cureus.9234 Text en Copyright © 2020, Ali et al. http://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Genetics Ali, Aiman Bin Arif, Taha Khan, Sulhera Bakhtawar Fatima, Fasiha Abbasi, Rabia Sehar A Rare Case of Malignant Infantile Osteopetrosis Presenting as Frontal Lobe Hemorrhage |
title | A Rare Case of Malignant Infantile Osteopetrosis Presenting as Frontal Lobe Hemorrhage |
title_full | A Rare Case of Malignant Infantile Osteopetrosis Presenting as Frontal Lobe Hemorrhage |
title_fullStr | A Rare Case of Malignant Infantile Osteopetrosis Presenting as Frontal Lobe Hemorrhage |
title_full_unstemmed | A Rare Case of Malignant Infantile Osteopetrosis Presenting as Frontal Lobe Hemorrhage |
title_short | A Rare Case of Malignant Infantile Osteopetrosis Presenting as Frontal Lobe Hemorrhage |
title_sort | rare case of malignant infantile osteopetrosis presenting as frontal lobe hemorrhage |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7430660/ https://www.ncbi.nlm.nih.gov/pubmed/32821582 http://dx.doi.org/10.7759/cureus.9234 |
work_keys_str_mv | AT aliaiman ararecaseofmalignantinfantileosteopetrosispresentingasfrontallobehemorrhage AT binariftaha ararecaseofmalignantinfantileosteopetrosispresentingasfrontallobehemorrhage AT khansulhera ararecaseofmalignantinfantileosteopetrosispresentingasfrontallobehemorrhage AT bakhtawarfatimafasiha ararecaseofmalignantinfantileosteopetrosispresentingasfrontallobehemorrhage AT abbasirabiasehar ararecaseofmalignantinfantileosteopetrosispresentingasfrontallobehemorrhage AT aliaiman rarecaseofmalignantinfantileosteopetrosispresentingasfrontallobehemorrhage AT binariftaha rarecaseofmalignantinfantileosteopetrosispresentingasfrontallobehemorrhage AT khansulhera rarecaseofmalignantinfantileosteopetrosispresentingasfrontallobehemorrhage AT bakhtawarfatimafasiha rarecaseofmalignantinfantileosteopetrosispresentingasfrontallobehemorrhage AT abbasirabiasehar rarecaseofmalignantinfantileosteopetrosispresentingasfrontallobehemorrhage |