Browsing by Author "Rodrigues, Ana Sofia"
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- Scurvy in a 5-Year-Old Girl - A Re-emerging DiagnosisCorreia de Azevedo, Aida; Rodrigues, Ana Sofia; Feio, Ana; Faria, João; Andrade, Beatriz; Rolim, Sara; Sequeira, AlexandraMonotonous diets may lead to various nutritional deficits, which in turn can result in diseases such as scurvy. A five-year-old girl presented with a one-month history of anorexia, inability to walk, and bleeding gums. Her daily dietary intake consisted almost exclusively of chocolate milk at every meal. Due to frequent missed appointments with her family doctor and her parents’ limited parenting skills, the condition remained undiagnosed for nearly two years. Serum vitamin C levels were undetectable, while vitamin D and iron levels were low. Knee X-rays revealed Trümmerfeld zones, Frankel lines, and an enlarged metaphyseal margin. The diagnosis of scurvy was established, and a multidisciplinary approach was implemented, including iron, vitamin C, and vitamin D supplementation, alongside behavioral intervention. The patient achieved full recovery. Although scurvy is generally a rare disease, its prevalence has been increasing due to unbalanced and monotonous diets. It can cause a wide spectrum of clinical manifestations, and its diagnosis is based on anamnesis, physical examination, and complementary tests. Treatment involves vitamin C supplementation, with an overall excellent prognosis.
- Unveiling the Complexity: Mosaic Cardiofaciocutaneous Syndrome Presenting with Exuberant Elephantiasis Nostras VerrucosaPublication . Rodrigues, Ana Sofia; da Silva, Maria de Abreu Nunes; Azevedo, Aida; Carvalho, Sónia Cristina Dias; Sousa, Álvaro Rui Miranda; Fortuna, AnaCardiofaciocutaneous syndrome (CFC) is a rare disorder of the RAS MAPK-pathway and is characterized by dysmorphic facial appearance, hair and skin abnormalities, congenital heartdefects, growth retardation and global developmental delay. We report the clinical case of a 17 -year-old female with hemihypertrophy, lymphedema, dysmorphic features and intellectual disability in whom peripheral blood panel study for RASopathies confirmed the presence of KRAS pathogenic variant c.34G>A (G12D). The ectodermal phenotype, including lymphedema appeared to be restricted to the right hemihypertrophy, and its pattern is suggestive of mosaicism for the condition, which has not previously been described in CFC, to our knowledge.