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Ultima descărcare din IBN: 2024-01-20 14:40 |
SM ISO690:2012 MELNIC, Adrian, NACU, Gabriela, PLEŞCA, Svetlana, PASCAL, Oleg. Short-Term Rehabilitation Outcomes In A Patient WithOsteogenesis Imperfecta Complicated With CerebralHemorrhage - A Case Report. In: Balneo and PRM Research Journal, 2022, nr. 3(13), p. 27. ISSN 2734-844X. |
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Balneo and PRM Research Journal | |||||||
Numărul 3(13) / 2022 / ISSN 2734-844X /ISSNe 2734-8458 | |||||||
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Pag. 27-27 | |||||||
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Introduction: Osteogenesis imperfecta (OI) represents a spectrum of autosomal dominant genetic diseases, related to collagen synthesis deficits that lead to multiple fractures but can have many other clinical features including silent to severe course, different age of onset, blue sclerae, loss of hearing, neurological deficits and tooth development problems. There have been reported several series of cases describing vascular fragility and cerebral hemorrhage in patients with OI. Materials and methods: In this report, we present the case of a 54-year-old woman with multiple fractures, presented with right hemiparesis suggestive for stroke. Clinical and paraclinical data was collected while the patient underwent rehabilitation Results: The patient with acute onset of right hemiplegia and aphasia was delivered(admitted) to the emergency department. Physical assessment revealed blue sclerae and multiple bone deformities in the elbow and tibial region due to pathological consolidation after fractures. Left capsule-thalamic intracerebral hematoma with the intraventricular eruption was visualized on CT scan examination. The diagnosis of OI was confirmed using a genetic test that showed an abnormal phenotype in the COL1A1 gene. After discharge from the rehabilitation unit, a good outcome was obtained with NIHSS score regression from 15 to 9 points, modified Rankin score from 5th to 3rd level, and functional categories of ambulation progression from 0 to 2nd category.Conclusion: While cerebral hemorrhage is not common in patients with OI, this complication may be a result of vascular fragility. Adequate rehabilitation care can strengthen rehabilitation outcomes for patients with OI. |
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