RESUMO
Snyder-Robinson syndrome is an extremely rare genetic disorder, caused by mutations of the spermine synthase gene. We report a novel case of Snyder-Robinson syndrome, caused by a de novo mutation and first misdiagnosed with osteogenesis imperfecta. Clinical features, course, and genetic analysis are presented. The patient was treated with bisphosphonates for a decade, until developing an atypical femoral fracture. Teriparatide was then administered for 2 years and then changed to denosumab every 6 months, improving his bone density mass and preventing further fractures.
Assuntos
Deficiência Intelectual Ligada ao Cromossomo X , Osteogênese Imperfeita , Espermina Sintase , Diagnóstico Diferencial , Humanos , Deficiência Intelectual Ligada ao Cromossomo X/diagnóstico , Deficiência Intelectual Ligada ao Cromossomo X/genética , Osteogênese Imperfeita/diagnóstico , Osteogênese Imperfeita/tratamento farmacológico , Osteogênese Imperfeita/genética , Espermina Sintase/genéticaRESUMO
AIM: To analyze the correlation between clinical symptoms and physical examination signs in diagnostic groups of low back pain patients; making a spanning tree. MATERIAL AND METHOD: A prospective longitudinal study of 485 low back pain patients was carried. We assess the type of pain and its irradiation, evolution in time, duration of the episodes, timetable, intensity and morning stiffness. A complete physical examination with specific tests for sacroiliac joints and neurologic examination was carried. We carried out a study of absolute and relative frequencies; calculating the rates with the chi 2 Pearson test and having a confidence of 95%. RESULTS: We found a significant relation (p < 0.0001) between the type of pain and the diagnosis groups. Proximal irradiation with functional disorders (p < 0.01) and metabolic bone diseases (p < 0.0001); the radicular irradiation and the disorders by physical agents (p < 0.001). The flare-up back pain with disorders by physical agents and metabolic bone diseases (p < 0.001). The morning stiffness was exclusive in the inflammatory diseases. In the physical examination, was found a significant relation (p < 0.0001) between the different tests with the diagnostic groups. CONCLUSION: The history and the physical examination provide us symptoms and signs which let us direct towards the above diagnostic. The type of pain with its characteristics and the referred pain as a main symptoms, give us some information, which complemented with the physical examination tests, providing the base on which we support our diagnostic hypothesis, allow us the first classification of the patients; at the same time we understand as a low back pain patients suffer its problem.
