RESUMEN
Marfan syndrome, a hereditary disorder of connective tissue marked by FBN1 gene mutations, presents a clinical tapestry requiring a multidisciplinary approach for optimal management. This case report details the presentation of an 11-year-old male exhibiting musculoskeletal deformities, notably an abnormally curved spine and congenital hip dysplasia, indicative of Marfan syndrome. The absence of cardiovascular abnormalities and family history challenges the diagnostic process. Clinical evaluation revealed classical signs, including positive wrist and thumb signs, pectus carinatum, a loose skin fold, and scapular winging. Laboratory investigations, including imaging studies, confirmed the diagnosis. The patient's management involves a multifaceted strategy, addressing cardiovascular risks through beta-blockers and potential surgical interventions, orthopedic measures for musculoskeletal complications, and ophthalmologic interventions for ocular manifestations. Genetic counseling facilitates informed decision-making, and psychosocial support ensures holistic care. This case underscores the necessity of recognizing atypical presentations and employing a holistic, collaborative approach for early diagnosis and effective management of Marfan syndrome, thereby emphasizing the importance of ongoing research and heightened clinical awareness in enhancing outcomes for individuals living with this intricate genetic disorder.
RESUMEN
Avascular necrosis is the destruction of bone tissue as a result of a lack of blood flow. Alternative synonyms for this condition include osteonecrosis, aseptic necrosis, and ischemic bone necrosis. In dire cases, bone collapse may occur. It tends to affect the hip, shoulder, knee, hand, and foot. Other typical locations are the shoulder, knees, and ankles. Avascular necrosis is a clinical condition characterized by complaints such as localized discomfort and limited range of motion. Early conservative treatment helps to decrease the progression of the symptoms. In the initial stages of avascular necrosis, physiotherapy plays a crucial role to reduce pain and improve the range of motion. This case study aims to inform readers about the conservative treatment protocol that can manage avascular necrosis in the initial condition.