Pathogenic variants in WAC are uncommon causes of developmental delay and neurobehavioral phenotypes. The clinical features associated with WAC haploinsufficiency include recognizable dysmorphic facial features that were recently delineated as DeSanto-Shinawi syndrome (DESSH; OMIM 616708). Additional clinical features include hypotonia, hearing and vision abnormalities, gastrointestinal problems, and behavioral difficulties. Here, we report a case of a 4-year-old Colombian male patient with typical dysmorphic facial features, developmental delay, hyperactivity, and recurrent respiratory infections. His immune workup revealed hypogammaglobulinemia, and clinical exome sequencing revealed a novel intronic variant in WAC (c.1437+1G>A). To the best of our knowledge, this is the first case of DESSH in South America, underlining the accumulating evidence of the significant role of WAC haploinsufficiency in neurobehavioral phenotypes. Although this report suggested the potential involvement of WAC in immune regulation, additional reports are required to confirm our observations.

BackgroundAchondrogenesis type IA (ACG1A) is a rare, lethal autosomal recessive chondrodysplasia affecting endochondral bone ossification and differentiation, causing intrauterine growth restriction, narrow thorax, and short limbs. Mutations in TRIP11, which encodes Golgi microtubule-binding protein 210 in the Golgi apparatus, alter protein transport in tissues.Case presentationA 28-week gestation male fetus was diagnosed with ACG1A by clinical, radiological, histologic, and molecular findings.ResultsWhole exome sequencing was performed on fetal DNA and parental blood. Two fetal heterozygous novel variants of TRIP11, c.2304_2307delTCAA (p.Asn768Lysfs*7) and c.2128_2129delAT (p.lle710Cysfs*19), were inherited from the mother and father, respectively. Both variants created a reading frameshift leading to a premature stop codon and loss of protein function.ConclusionTo our knowledge, this is the first Latin American report with clinical, radiographic, and molecular diagnosis of ACG1A. Clinical and molecular diagnosis in utero is essential for genotype–phenotype correlation and is useful for providing better genetic counseling.

Contribución de los autores:Róbinson Pacheco y Fernando Rosso: desarrollo de la idea, diseño del estudio y revisión crítica del contenido Sarita Rodríguez: creación de la base de datos, análisis de la información, revisión crítica del contenido Sara Vanegas: revisión de la literatura, diseño del estudio, recolección de datos y análisis de la información Todos los autores participaron en la redacción del manuscrito.Prevalencia y curso clínico de la infección por dengue en adultos mayores con cuadro febril agudo en un hospital de alta complejidad en Cali, Colombia Introducción. Hay pocas series de casos publicadas sobre la prevalencia y el curso clínico del dengue en adultos mayores con síndrome febril, habitantes en zonas endémicas para la infección. Se cree que tales casos presentan una baja prevalencia pero revisten mayor gravedad, y más complicaciones y mortalidad. Objetivos. Describir la prevalencia y el curso clínico del dengue en adultos mayores atendidos por síndrome febril agudo en un hospital de alta complejidad de una zona endémica de la enfermedad. Introduction: Little is known about the prevalence and clinical course of dengue infection in elderly patients living in endemic areas; it is presumed that there is a lower prevalence but higher severity, complications and mortality. Objective: To describe the prevalence and clinical course of dengue infection in elderly patients who were admitted to a referral care center for infectious diseases in an endemic region. Materials and methods:We conducted an observational and descriptive study between 2011 and 2014, using a cohort of elderly patients with serological diagnosis of dengue.Results: A total of 235 febrile elderly patients were assessed, of which 43 patients (18.3%) were found to have dengue. The median age was 71 years; 48.7% were female, and 89% of patients had at least one comorbid condition. According to the serological tests, 51.4% of cases were positive for NS1 Ag, 27% for IgM and 54.1% for IgG, while 64.8% were secondary infections. Dengue was diagnosed in 13 patients (35%), dengue with warning signs in 16 cases (43%), and severe dengue in 8 cases (22%). Nearly 56.7% of patients were admitted to hospital and 21.6%, to the intensive care unit. None died. 180Biomédica 2016;36(Supl.2):179-86 Rosso F, Pacheco R, Rodríguez S, Vanegas S Conclusion: We found dengue infection to be more frequent than expected in this sample of elderly patients, due to acute febrile syndrome. Elderly patients also required higher rate of hospitalization and had more complications, however there were no deaths due to good management.

IntroductionMutations in ABCC9 are associated with Cantú syndrome (CS), a very rare genetic disorder characterized by congenital hypertrichosis, acromegaloid facial appearance (AFA), cardiomegaly, and skeletal anomalies.Case reportWe report an 8-year-old female patient with congenital generalized hypertrichosis and coarse facial appearance but without cardiovascular or skeletal compromise. Whole exome sequencing revealed a novel de novo heterozygous mutation in ABCC9. In addition, the genotype and phenotype of the patient were compared with those of the patients reported in the literature and with other related conditions that include AFA, hypertrichosis and AFA, and CS.ConclusionThis is the first report of a South-American patient with mutation in ABCC9. We propose that her phenotype is a part of a spectrum of features associated with congenital hypertrichosis and mutations in ABCC9, which differs from CS and related disorders. Whole exome sequencing enabled the identification of the causality of this disease characterized by high clinical and genetic heterogeneity.

No abstract