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
Retrospective chart review of 15 patients with infantile tremor syndrome in which mothers had their serum vitamin B12 measured, showed low (<200 pg/mL) serum vitamin B12 in 9 and low-normal (<200-350 pg/mL) in 6. Of the 9 mothers who had undergone complete blood counts, anemia was present in 6 and macrocytosis in 3. Vitamin B12 deficiency appears to be common in mothers of infants with infantile tremor syndrome.