Browsing by Author "Fortuna, Ana"
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- Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease – A Rare Case Concerning PMM2 Gene PleiotropyPublication . Borges, Teresa; Fortuna, Ana; Faria, Maria Do Sameiro; Oliveira, Maria João; Freitas, Joana; Santos Silva, Ermelinda; Quelhas, D; Figueiredo, Catarina Matos; Soares, Ana RitaCo-occurrence of hyperinsulinaemic hypoglycaemia and polycystic kidney disease (HIPKD) has been recently described. It is caused by a non-coding variant in the promoter region for phosphomannomutase 2 (PMM2), c.-167G>T, both in homozygous or compound heterozygous variants with deleterious coding. Although PMM2 has been associated with congenital disorder of glycosylation, patients do not present with this phenotype and have normal carbohydrate-deficient transferring testing. The authors present a rare case where specific PMM2 study was performed as a result of clinical suspicions. The patient was a 6-year-old female followed at our clinic due to congenital hyperinsulinism since she was 1 month old. She also presented with bilateral polycystic kidneys, detected in prenatal set, and simple hepatic cysts, for which she was treated with diazoxide and captopril. Initial metabolic and genetic studies were normal. PMM2 gene sequence study revealed the promotor variant c.-167G>T in compound heterozygosity with the previously described pathogenic variant c.422G>A (p.Arg141His), confirming the diagnosis of HIPKD. This is a notable case as it highlights the importance of keeping this diagnostic hypothesis in mind and serves as a reminder to perform proper clinical and genetic investigation. A correct, and early, diagnosis will avoid unnecessary additional investigations and will allow appropriate genetic counselling for this autosomal recessive disorder.
- 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.
- Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEBPublication . Maia, N; Soares, Ana Rita; Fortuna, Ana; Marques, Isabel; Gonçalves, Ana; Santos, Rosário; Pires, Manuel; De Brouwer, Arjan; Jorge, PaulaIn a patient with Usher syndrome and atypical muscle complaints, we have identified two separate variants in MYO7A andNEB genes by exome sequencing. The homozygous variants in these two recessive genes could explain the full phenotype of our patient.