BackgroundThe Mulvihill-Smith Syndrome was first recognized in 1975. After the recognition of the Mulvihill-Smith Syndrome, ten cases have been described.Case presentationThis article describes the eleventh case of this syndrome in a male patient, 24 years-old with short stature and microcephaly with mild cognitive impairment, deafness and allergic conjunctivitis. The patient was hospitalized several times for repeated infections, and the presence of multiple melanocytic nevi on his skin was noticed.ConclusionsBased on the entire set of signs and symptoms presented in our study, it was diagnosed the patient with Mulvihill-Smith Syndrome.
ResumoIntrodução: A presença de sequências repetidas de DNA já foi identificada como marcadoras de certas doenças neuropsiquiátricas. O gene FMR1 possui sequência rica em repetições CGG, sujeito a expansão quando transmitido por via materna. Alelos pré-mutados (55
Abstract:Introduction: Meningitis is the leading infectious syndrome that affects the central nervous system, and most cases are caused by viral infections, mainly enterovirus. The clinical diagnosis for meningitis etiology still presents major challenges. The analysis of polymerase chain reaction (PCR), white blood cells, red blood cells, glucose, protein, and lactate in the cerebrospinal fluid (CSF) provides the first clues to the diagnosis. However, the reference values of some parameters can suffer changes. Objective: Analyze the laboratory parameters of CSF in patients with enterovirus meningitis, and then, theirrelationship by age group. Methods: A descriptive study was conducted based on data from a CSF reference service, located in São Paulo, Brazil, on 202 individuals who had enterovirus meningitis. Data was analysed by the Shapiro-Wilk and Kruskal-Wallis tests (CI = 95%, p < 0.05) and represented by the median and percentile 25 and 75, respectively. Results: The cytological and biochemical parameters of the CSF shows us that proteins had median concentrations of 33.0mg/ dL, glucose of 57.0mg/dl, lactate of 19.0mg/dL and the leukocyte of 119.0 cells/mm 3 , with a predominance of lymphocytes (42%). It was found that age can cause cytological and biochemical changes in the parameters of CSF. Children younger than 2 years had a range percentage of neutrophils and monocytes different then children aged < 2 and < 6 years, and aged < 6 and < 10 years. The protein concentration range in CSF as well as glucose track can also change according to age. Conclusion:The parameters of the CSF in patients with enteroviral meningitis showed similar median concentrations to those found in the literature. Age may lead to changes in cytological and biochemical parameters of CSF. CSF protein and glucose concentrations also change according to age.
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