आणविक और आनुवंशिक चिकित्सा

Osteogenesis Imperfecta (Oi): A Case Report and Diagnosis Thinking Beyond Bone Fracture

Abstract

Manuela Stoicescu

Objectives: Most times in the medical practice, when we have a case of bone fracture, the patient is sent to the Orthopedic Department in order to treat locally the bone fracture with bone consolidation, without thinking at other diseases, of which the patient could suffer from and which in fact represent the real cause of the fracture, exception making the women at menopause, which make frequent fractures on background of osteoporosis and the cancers with different localizations complicate with bone metastasis, in these situations the fractures appear on pathologic bone and have a reserved prognosis. We should investigate further for other pathologies in order to find the real cause of the fracture. Methods: Present the case of a young girl aged 19, comes for a consultation with her mother with a complaint of fatigue, loss of appetite, lack of concentration and attention at school, getting tired easily after minimal physical and intellectual effort, the patient also mentions that about eight months ago she sustained a minor trauma to her left forearm which resulted in a fracture, which was then followed by a fracture of the radius and resulted in her being referred to the orthopedics department where her arm had to be fitted with metal rods. The principal signs was: bone deformation, bone shortening, thin bones, abnormally fragile bones, small muscles, joints and weak tendons, formation of thick scars, small somatic conformation, defective dentition (incomplete dentition , the teeth was damaged, the teeth falled quickly),the cornea was transparent blue(blue sclera) and also her mother had blue sclera. The molecular genetic test was used for clinic diagnosis confirmation and releaved mutations in COL1 A1 and COL1 A2 genes responsabile of sintesis of type I procollagen and confirmed the disease osteogenesis imperfecta. Results: The case of the fracture of the forearm was a very rare genetic disease - osteogenesis imperfecta- a congenital autosomal dominance. A.D. illness and occur even if only one parent transmits the effected gene. As in this case the daughter inherited the disease from her mother. Conclusions: Initially the case appeared to be a trivial case with a simple forearm bone fracture./Subsequently detailed physical examination revealed clinical signs such as somatic changes dentition and more importantly blue sclera pointing us towards the extremely rare disease osteogenesis imperfecta / An examination of the patient’s mother revealed the same signs, confirming the patient had inherited the autosomal dominant disease from her mother./Starting from a simple fracture and some nonspecific clinical symptoms, the final diagnosis was an unexpected surprise to finally discover a hereditary disease with autosomal dominant transmission which is extremely rare - osteogenesis imperfecta. This clinical case should point out that sometimes when a simple fracture is discovered there may be previously unknown underlying disease which may have contributed to the injury and fractures can also be caused by other bone disease./ The molecular genetic test was used for clinic diagnosis confirmation and releaved mutations in COL1 A1 and COL1 A2 genes responsabile of sintesis of type I procollagen and confirmed the disease osteogenesis imperfecta.