Open AccessNeurological findings of a patient with Patau syndrome and a nonusual clinical presentation
Author(s) -
Bruno Custódio Silva,
Maria Isabelle Nakano Vieira,
Gisele Delazeri,
Esther Rodrigues Rocha Alves,
Ana Luíza Kolling Konopka,
Guilherme Rocha Spiller,
Paulo Ricardo Gazzola Zen,
Rafael Fabiano Machado Rosa
Publication year - 2021
Language(s) - English
Resource type - Conference proceedings
DOI - 10.5327/1516-3180.073
Subject(s) - medicine , clinodactyly , anophthalmia , polydactyly , pediatrics , context (archaeology) , tetralogy of fallot , microcephaly , trisomy , coloboma , surgery , anatomy , microphthalmia , paleontology , biochemistry , chemistry , genetics , heart disease , biology , gene
Context: Chromosome 13 trisomy, or Patau syndrome (PS), is a genetic condition characterized by multiple findings and usually poor survival rate. However, its clinical presentation can be variable. Case report: A male patient was referred for evaluation due to a syndromic aspect. He was born by normal delivery, at term, weighing 4700 g. On physical exam, at 2 months, two areas of scaly aplasia on the scalp were shown as well as left coloboma of the iris, bulbous nose with small nostrils, ears with oversized helices, micrognathia, umbilical hernia, clinodactyly of the index finger of the hand left and the 4th and 5th toes of the left foot. Echocardiography revealed tetralogy of Fallot. The karyotype showed a free trisomy of chromosome 13 (47, XY, + 13), compatible with the diagnosis of PS. The patient died at 9 months of age due to complications from bronchopneumonia and had evolved with a delay in neuropsychomotor development at that moment. Conclusions: There are findings that stand out among patients with PS and that very often lead to diagnosis, such as micro/anophthalmia, bilateral cleft lip/palate and polydactyly. It is interesting in our case that the patient did not have any of them, which made it difficult to identify. In addition, from a neurological point of view, the findings were quite common; however, in our patient, there was only a delay in neuropsychomotor development, pointing out that the neurological findings can also be quite variable.