RESUMEN
Introduction: Sandestig-Stefanova syndrome is an autosomal recessive developmental syndrome characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly, periventricular white matter loss, thin corpus callosum, delayed myelination, and poor prognosis. This syndrome is caused by biallelic loss-of-function mutations in the NUP188 gene. Case Presentation: In the physical examination of our patient, whose mother and father were third-degree relatives, hypotonia, bilateral congenital cataracts, ambiguous genitalia, hypospadias, undescended testis, and facial dysmorphic findings (hypertelorism, high palate, micrognathia, microphthalmia, low-set ears) were detected. Discussion: In our patient, a homozygous c.1087C>T (p.Gln363Ter) variant was detected in exon 11 of the NUP188 (NM_015354.3) gene. The mother and father were found to be heterozygous carriers of this variant. All patients with the diagnosis of Sandestig-Stevanova syndrome reported in the literature are female. Our patient is the first male patient reported with this syndrome. In addition, immunodeficiency, congenital hypothyroidism, biotinidase deficiency, undescended testis, hypospadias, and ambiguous genitalia are defined for the first time in this syndrome. Our patient is the first case of Sandestig-Stefanova syndrome reported from Turkey. In this study, Sandestig-Stefanova syndrome with a novel pathogenic NUP188 gene variant is presented.
RESUMEN
Invasive Candida infections are one of the most important risk factors for the increasing mortality of immunocompromised patients with comorbidities in intensive care units. In this study, it was aimed to evaluate the mortality rate and risk factors affecting mortality in patients followed up with the diagnosis of invasive candidiasis in our pediatric intensive care unit. Patients who were between the ages of 1 month and 18 years followed up in the paediatric intensive care unit with invasive candidiasis between 2014 and 2018, were included in the study. The demographic characteristics of the patients, fever and hypotension, the Candida species, use of broad-spectrum antibiotics, blood transfusion, parenteral nutrition, invasive interventions, use of mechanical ventilation and laboratory test results were retrospectively analyzed and the relationship with mortality was statistically determined. A total of 85 patients, 45 girls, and 40 boys were included in the study. The death rate was 38.8% (n= 33). Candida albicans (48%) was the most common species for all isolates followed by Candida parapsilosis (21%), Candida tropicalis (15%), and others (16%). No statistically significant relationship was detected between the central venous catheter, broad-spectrum antibiotic and corticosteroid treatment, parenteral nutrition, gender difference, surgical operation, patient culture samples, isolated Candida species, and mortality (p> 0.05). A statistically significant relationship was found between blood transfusion, thrombocytopenia, and leukopenia, the first positive culture time since hospitalization, and the duration of antibiotic treatment and mortality (p<0.05). A statistically significant correlation was found with the presence of hypotension, one of the clinical markers associated with mortality (p<0.05) but the same relationship was not found with the presence of fever (p> 0.05). The mortality rate is high in candidiasis patients in pediatric intensive care units. Blood transfusions, long-term use of broad-spectrum antibiotics, and hypotension increase mortality.
