P092 Infantile osteopetrosis: a case report Traduction en Anglais
| Autor: | K Bouayed, N Moussali, A Sakhi, R Scholastique |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Gynecology
medicine.medical_specialty medicine.diagnostic_test Blindness Bone marrow transplantation business.industry Knee joint valgus deformity Computed tomography medicine.disease Albers-Schönberg Disease Normocytic normochromic anemia Rheumatology medicine Pharmacology (medical) Ear ossicles business |
| Zdroj: | Rheumatology. 60 |
| ISSN: | 1462-0332 1462-0324 |
| Popis: | Background Infantile osteopetrosis is a rare genetic disorder characterized by increased bone density due to defective osteoclastic resorption. Case report We report the case of a 6 years old girl, born of a consanguineous marriage, hospitalized in our department for bone deformations and visual disturbances. On clinical examination, there was conjunctival pallor, thoracic deformity, genu-valgum and dentigenesis disorder as well as nystagmus and severe loss of visual acuity. The complete blood count showed regenerative normochromic normocytic anaemia as well as thrombocytopenia. Assessment for infectious disorders was negative. The skeletal X-ray revealed diffuse osteocondensation of the skeleton. The CT scan of the rock bones of cranial bases revealed bilateral segmental stenosis of the facial canal with densification of the ossicular chain and thickening of the stapes. Cranio-orbital MRI revealed bilateral optic duct stenosis with atrophy of the optic nerves and chiasma. The diagnosis of osteopetrosis was retained according to this set of clinical and radiological arguments. Unfortunately, the genetic study could not be performed. Histocompatible bone marrow transplant may be curative but was not available for our patient. Genetic counseling was offered for the family as well as dental and orthopedic care. Conclusion Infantile osteopetrosis is a rare but serious pathology that can have severe functional repercussion and even be life-threatening, requiring early diagnosis and management. |
| Databáze: | OpenAIRE |
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