Radiological diagnosis of infantile osteopetrosis in a 1-year-old with macrocephaly and jaundice
Infantile osteopetrosis is a rare, severe genetic disorder marked by defective osteoclast function, leading to abnormally dense but fragile bones. Early diagnosis through radiologic imaging is essential for proper management, as it often reveals hallmark features such as diffuse skeletal sclerosis,...
Saved in:
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-09-01
|
| Series: | Radiology Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1930043325004819 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850114779738275840 |
|---|---|
| author | Aya Laridi, MD Chaimaa Jabbari, MD Ihssane Laasri, MD Soufiane Hassar, MD Nazik Allali, PhD Latifa Chat, PhD Siham El Haddad, PhD |
| author_facet | Aya Laridi, MD Chaimaa Jabbari, MD Ihssane Laasri, MD Soufiane Hassar, MD Nazik Allali, PhD Latifa Chat, PhD Siham El Haddad, PhD |
| author_sort | Aya Laridi, MD |
| collection | DOAJ |
| description | Infantile osteopetrosis is a rare, severe genetic disorder marked by defective osteoclast function, leading to abnormally dense but fragile bones. Early diagnosis through radiologic imaging is essential for proper management, as it often reveals hallmark features such as diffuse skeletal sclerosis, the “bone-in-bone” appearance, and the “Harlequin mask” appearance. We present the case of a 1-year-old female who presented with macrocephaly, jaundice, and hepatosplenomegaly, alongside a family history of similar symptoms with sibling deaths. Clinical examination revealed dysmorphic facial features, growth retardation, and hematologic abnormalities including severe anemia and thrombocytopenia. Brain CT imaging demonstrated triventricular hydrocephalus, while skull X-rays revealed characteristic radiologic signs of osteopetrosis, including the “Harlequin mask” appearance and “sandwich” vertebrae. The diagnosis was confirmed based on these clinico-radiologic findings, given the unavailability of genetic testing. Osteopetrosis, particularly the autosomal recessive form, poses significant risks including bone marrow failure, fractures, and cranial nerve compression. This case underscores the critical role of radiologic evaluation in early detection and timely intervention, such as hematopoietic stem cell transplantation (HSCT), which may improve long-term outcomes. Our report highlights the importance of radiologic findings in diagnosing and managing this rare and potentially life-threatening condition. |
| format | Article |
| id | doaj-art-d8a787a10930404b8f4b0bb18cffb5ff |
| institution | OA Journals |
| issn | 1930-0433 |
| language | English |
| publishDate | 2025-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Radiology Case Reports |
| spelling | doaj-art-d8a787a10930404b8f4b0bb18cffb5ff2025-08-20T02:36:45ZengElsevierRadiology Case Reports1930-04332025-09-012094226423010.1016/j.radcr.2025.05.047Radiological diagnosis of infantile osteopetrosis in a 1-year-old with macrocephaly and jaundiceAya Laridi, MD0Chaimaa Jabbari, MD1Ihssane Laasri, MD2Soufiane Hassar, MD3Nazik Allali, PhD4Latifa Chat, PhD5Siham El Haddad, PhD6Corresponding author.; Department of Radiology, Mother-Child, Faculty of Medicine and Pharmacy of Rabat, Children's Hospital, Ibn Sina University Hospital, Mohammed V University, Rabat, MoroccoDepartment of Radiology, Mother-Child, Faculty of Medicine and Pharmacy of Rabat, Children's Hospital, Ibn Sina University Hospital, Mohammed V University, Rabat, MoroccoDepartment of Radiology, Mother-Child, Faculty of Medicine and Pharmacy of Rabat, Children's Hospital, Ibn Sina University Hospital, Mohammed V University, Rabat, MoroccoDepartment of Radiology, Mother-Child, Faculty of Medicine and Pharmacy of Rabat, Children's Hospital, Ibn Sina University Hospital, Mohammed V University, Rabat, MoroccoDepartment of Radiology, Mother-Child, Faculty of Medicine and Pharmacy of Rabat, Children's Hospital, Ibn Sina University Hospital, Mohammed V University, Rabat, MoroccoDepartment of Radiology, Mother-Child, Faculty of Medicine and Pharmacy of Rabat, Children's Hospital, Ibn Sina University Hospital, Mohammed V University, Rabat, MoroccoDepartment of Radiology, Mother-Child, Faculty of Medicine and Pharmacy of Rabat, Children's Hospital, Ibn Sina University Hospital, Mohammed V University, Rabat, MoroccoInfantile osteopetrosis is a rare, severe genetic disorder marked by defective osteoclast function, leading to abnormally dense but fragile bones. Early diagnosis through radiologic imaging is essential for proper management, as it often reveals hallmark features such as diffuse skeletal sclerosis, the “bone-in-bone” appearance, and the “Harlequin mask” appearance. We present the case of a 1-year-old female who presented with macrocephaly, jaundice, and hepatosplenomegaly, alongside a family history of similar symptoms with sibling deaths. Clinical examination revealed dysmorphic facial features, growth retardation, and hematologic abnormalities including severe anemia and thrombocytopenia. Brain CT imaging demonstrated triventricular hydrocephalus, while skull X-rays revealed characteristic radiologic signs of osteopetrosis, including the “Harlequin mask” appearance and “sandwich” vertebrae. The diagnosis was confirmed based on these clinico-radiologic findings, given the unavailability of genetic testing. Osteopetrosis, particularly the autosomal recessive form, poses significant risks including bone marrow failure, fractures, and cranial nerve compression. This case underscores the critical role of radiologic evaluation in early detection and timely intervention, such as hematopoietic stem cell transplantation (HSCT), which may improve long-term outcomes. Our report highlights the importance of radiologic findings in diagnosing and managing this rare and potentially life-threatening condition.http://www.sciencedirect.com/science/article/pii/S1930043325004819Infantile osteopetrosisPediatricsX-rayCT |
| spellingShingle | Aya Laridi, MD Chaimaa Jabbari, MD Ihssane Laasri, MD Soufiane Hassar, MD Nazik Allali, PhD Latifa Chat, PhD Siham El Haddad, PhD Radiological diagnosis of infantile osteopetrosis in a 1-year-old with macrocephaly and jaundice Radiology Case Reports Infantile osteopetrosis Pediatrics X-ray CT |
| title | Radiological diagnosis of infantile osteopetrosis in a 1-year-old with macrocephaly and jaundice |
| title_full | Radiological diagnosis of infantile osteopetrosis in a 1-year-old with macrocephaly and jaundice |
| title_fullStr | Radiological diagnosis of infantile osteopetrosis in a 1-year-old with macrocephaly and jaundice |
| title_full_unstemmed | Radiological diagnosis of infantile osteopetrosis in a 1-year-old with macrocephaly and jaundice |
| title_short | Radiological diagnosis of infantile osteopetrosis in a 1-year-old with macrocephaly and jaundice |
| title_sort | radiological diagnosis of infantile osteopetrosis in a 1 year old with macrocephaly and jaundice |
| topic | Infantile osteopetrosis Pediatrics X-ray CT |
| url | http://www.sciencedirect.com/science/article/pii/S1930043325004819 |
| work_keys_str_mv | AT ayalaridimd radiologicaldiagnosisofinfantileosteopetrosisina1yearoldwithmacrocephalyandjaundice AT chaimaajabbarimd radiologicaldiagnosisofinfantileosteopetrosisina1yearoldwithmacrocephalyandjaundice AT ihssanelaasrimd radiologicaldiagnosisofinfantileosteopetrosisina1yearoldwithmacrocephalyandjaundice AT soufianehassarmd radiologicaldiagnosisofinfantileosteopetrosisina1yearoldwithmacrocephalyandjaundice AT nazikallaliphd radiologicaldiagnosisofinfantileosteopetrosisina1yearoldwithmacrocephalyandjaundice AT latifachatphd radiologicaldiagnosisofinfantileosteopetrosisina1yearoldwithmacrocephalyandjaundice AT sihamelhaddadphd radiologicaldiagnosisofinfantileosteopetrosisina1yearoldwithmacrocephalyandjaundice |