Publications by authors named "A Vomero"
Fibrodysplasia ossificans progressiva in a 3-year-old female patient.
Bol Med Hosp Infant Mex
March 2023
Background: Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disease affecting connective tissue, primarily caused by de novo mutations of the ACVR1 gene. FOP is a disease with congenital malformations of the toes and heterotopic ossification in characteristic patterns that progresses with flare-ups and remissions. Cumulative damage results in disability and, eventually, death.
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- Vitamin B12 deficiency in infants often stems from maternal nutritional deficiencies, particularly associated with vegetarian diets, but can also result from maternal pernicious anemia, an autoimmune condition affecting vitamin absorption.* -
- A clinical case is presented of a 9-month-old boy who developed vitamin B12 deficiency due to his mother's pernicious anemia, marked by symptoms like reduced responsiveness and motor regression.* -
- Prompt diagnosis and treatment of vitamin B12 deficiency are crucial to avoid irreversible neurological damage, particularly in cases linked to maternal pernicious anemia even if the mother has no dietary restrictions.*
Introduction: Malignant Infantile Osteopetrosis (MIOP) is a rare and severe genetic disorder due to abnormal osteoclast activity.
Objective: To report an infant who presented Malignant Infantile Osteopetrosis, reviewing the most relevant diagnostic and therapeutic aspects.
Clinical Case: A ten- month-old male infant with diagnosis of MIOP confirmed after presenting thrombocytopenia and visceromegaly.
Background: The most frequent osteoarticular infections (OAI) etiological agent is Staphylococcus aureus. The prevalence of other microorganisms has changed after the introduction of new vaccines.
Aim: To describe the etiology and evolution of the OAIs in children hospitalized in Pediatric Hospital Pereira Rossell between 2009 and 2015.
Mutations in ARX gene should be considered in patients with mental disability or/and epilepsy. It is an X-linked gene that has pleiotropic effects. Here, we report the case of a boy diagnosed with Ohtahara syndrome.
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