Síndrome de Aarskog: um relato de caso / Aarskog syndrome: a case report

Introdução: A Síndrome de Aarskog-Scott (AAS) é uma rara displasia faciogenital ligada ao gene FGD1, afetando principalmente meninos. Relato de caso: Descreve-se um caso de um menino de 4 anos com AAS, destacando sua importância científica devido à raridade, escassez de descrições e morbidade associada. Ele apresentou fenda sacral, criptorquidia bilateral, atrasos no crescimento e histórico familiar semelhante. A AAS é caracterizada por estatura baixa, anomalias faciais e diversos comprometimentos. Este caso ressalta a importância do acompanhamento médico especializado. Considerações finais: A escassez de estudos comparáveis destaca a relevância dos relatos de casos para aprofundar a compreensão de condições clínicas singulares.

Introduction: Aarskog-Scott Syndrome (AAS) is a rare faciogenital dysplasia linked to the FGD1 gene, primarily affecting boys. Case report: We describe a case of a 4-year-old boy with AAS, highlighting its scientific importance due to its rarity, scarcity of descriptions, and associated morbidity. He presented with sacral cleft, bilateral cryptorchidism, growth delays, and similar family history. AAS is characterized by short stature, facial anomalies, and various impairments. Final considerations: This case underscores the importance of specialized medical care, and the scarcity of comparable studies highlights the relevance of case reports in deepening the understanding of unique clinical conditions.

Bailey-Bloch Congenital Myopathy in Brazilian Patients: A Very Rare Myopathy with Malignant Hyperthermia Susceptibility.

BACKGROUND: Congenital myopathy-13 (CMYP13), also known as Bailey-Bloch congenital myopathy and Native American myopathy (NAM), is a condition caused by biallelic missense pathogenic variants in STAC3, which encodes an important protein necessary for the excitation-relaxation coupling machinery in the muscle. Patients with biallelic pathogenic variants in STAC3 often present with congenital weakness and arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kyphoscoliosis, and susceptibility to malignant hyperthermia provoked by anesthesia. We present two unrelated cases of Bailey-Bloch congenital myopathy descendants of non-consanguineous parents, which were investigated for delayed psychomotor development and generalized weakness. To the best of our knowledge, these are the first descriptions of CMYP13 in Brazil. In both patients, we found the previously described pathogenic missense variant p.Trp284Ser in homozygosity. CONCLUSION: We seek to highlight the need for screening for CMYP13 in patients expressing the typical phenotype of the disease even in the absence of Lumbee Native American ancestry, and to raise awareness to possible complications like malignant hyperthermia in Bailey-Bloch congenital myopathy.

Neuropsychological and quality of life outcomes in PKU patients: expert recommendations of assessment tools in Brazil / Desfechos neuropsicológicos e de qualidade de vida em pacientes com PKU: recomendações de especialistas sobre ferramentas de avaliação no Brasil

Abstract Background Phenylketonuria (PKU) is an inborn error of metabolism caused by deficient activity of phenylalanine hydroxylase. In Brazil, the National Neonatal Screening Program enables early treatment of patients with PKU, which prevents them from developing severe neurological damage and mental disabilities. However, between 20 and 30% of early-treated patients with PKU present focal cognitive deficits, including deficits in working memory, processing speed, and psychiatric symptoms such as anxiety, depression, and attention deficit hyperactivity disorder (ADHD). Therefore, age-specific neuropsychiatric and cognitive tests are important components of PKU patient care. To date, there are no officially approved guidelines or recommendations of tools in Portuguese validated for use in Brazil that could be applied to assess these parameters in patients with PKU. Objective To recommend tools validated for use in Brazil that can be used in daily clinical practice to assess quality of life and neuropsychological outcomes in patients with PKU. Methods Six Brazilian experts discussed about eligible tools based on their clinical experience, the feasibility of their use in clinical routines, and their availability in public health services. Before the meeting, an independent review of the literature was conducted to identify the currently validated tools in Brazil, using the MEDLINE and SciELO databases. Results The experts recommended nine tools to assess quality of life (Peds-QL, SF-36 or WHOQOL-bref), executive function (BRIEF or Bayley-III), IQ (SONR 2½-7[a] or WASI) and ADHD (MTA-SNAP-IV and ASRS). Conclusions These instruments may be easily incorporated into clinical practice and improve the quality of multidisciplinary care of patients with PKU.

Resumo Antecedentes A fenilcetonúria (PKU) é um erro inato do metabolismo causado pela atividade deficiente da fenilalanina hidroxilase. No Brasil, o Programa Nacional de Triagem Neonatal permite o tratamento precoce de pacientes com PKU, o que os impede de desenvolver danos neurológicos e deficiências intelectuais graves. No entanto, já foi descrito que de 20 a 30% dos pacientes tratados precocemente com PKU apresentam déficits cognitivos focais, incluindo déficits na memória de trabalho, velocidade de processamento e sintomas psiquiátricos como ansiedade, depressão e Transtorno de Déficit de Atenção e Hiperatividade (TDAH). Neste sentido, testes neuropsiquiátricos e cognitivos são componentes importantes no cuidado destes pacientes. Atualmente, não existe um compêndio científico ou recomendações de ferramentas validadas em português para avaliar a saúde mental em pacientes brasileiros com PKU. Objetivo Recomendar ferramentas validadas localmente para avaliar a qualidade de vida e aspectos neuropsicológicos de pacientes com PKU. Métodos Seis especialistas brasileiros discutiram as ferramentas mais apropriadas com base em suas experiências clínicas, a viabilidade de realizar as avaliações na rotina clínica, e o acesso às ferramentas na saúde pública. Antes da reunião, foi realizada uma revisão independente da literatura para identificar as ferramentas validadas no Brasil, utilizando as bases de dados MEDLINE e Scielo. Resultados Os especialistas recomendaram nove ferramentas para avaliar a qualidade de vida (Peds-QL, SF-36 ou WHOQOL-bref), função executiva (BRIEF ou Bayley-III), QI (SONR 2½-7[a] ou WASI) e TDAH (MTA-SNAP-IV e ASRS). Conclusões Estes instrumentos podem ser facilmente incorporados na prática clínica e melhorar a qualidade dos cuidados multidisciplinares dos pacientes com PKU.

Apresentação clínica de osteogênese XV em um menino brasileiro de 4 anos / Clinical presentation of osteogenesis imperfecta XV in a four-year-old brazilian boy

Introdução: Osteogênese Imperfeita (OI) é uma doença genética rara com fragilidade óssea. A classificação inclui muitos tipos. Além do risco de recorrência, o manejo pode variar com o tipo de OI. Relato do caso: Apresentamos um paciente do sexo masculino nascido com 39 semanas, de pais não consanguíneos e saudáveis. A hidrocefalia foi diagnosticada no pré-natal. Com 50 dias de vida, detectamos muitas fraturas e calos ósseos. O teste molecular identificou uma deleção em homozigose do éxon 4 do gene WNT1. Considerações finais: Concluímos que o caso apresentado tinha características clínicas de OI XV, e o teste molecular foi fundamental para o diagnóstico preciso e aconselhamento genético.

Introduction: Osteogenesis Imperfecta (OI) is a rare genetic disease with bone fragility. The classification includes many types. In addition, the risk of a recurrence, the management can vary with the kind of OI. Case report: We report a male patient born at 39 weeks from non-consanguineous healthy parents. The patient was diagnosed with Hydrocephalus at prenatal. At 50 days of life, we detected many fractures and bone calluses. The molecular test identified a homozygous deletion of exon 4 of the WNT1 gene. Final considerations: We conclude this case had clinical features of OI XV, and the molecular test was fundamental for the precise diagnosis and the genetic counseling.

Dental treatment before surgery in a patient with cleft lip and palate: case report / Efeito do Cissus quadrangularis na cicatrização de fraturas em animais de laboratório

Introduction: orofacial clefts are common congenital malformations with an important social, psychological, and economic impact. The treatment of this condition may include different surgical procedures that previously require an adequate oral condition. Case report: we report a case of dental treatment before palatoplasty in a male patient of 17 years-old with bilateral cleft lip and palate and lesion in the jugal mucosa. Final considerations: the adequacy of the oral environment is a fundamental step in the treatment of patients with orofacial clefts and aims to restore oral health regardless of the degree of complexity of the dental treatment through the reduction of the pathogenic microbiota, elimination of retentive niches, instructions on diet and adequate oral hygiene and constant patient motivation.

Objetivos: as fissuras orofaciais são malformações congênitas comuns, com importante impacto social, psicológico e econômico. O tratamento dessa condição pode incluir vários procedimentos cirúrgicos que requerem previamente uma adequada condição bucal. Relato de caso: Relatamos o caso de tratamento odontológico prévio a palatoplastia em um paciente do gênero masculino de 17 anos de idade, com fissura transforame incisivo bilateral e lesão em mucosa jugal. Considerações finais: A adequação do meio bucal é uma etapa fundamental no tratamento de pacientes com fissuras orofaciais e visa restabelecer a saúde bucal independente do grau de complexidade do tratamento odontológico por meio da redução da microbiota patogênica, eliminação de nichos retentivos, orientações sobre dieta e higiene bucal adequada e motivação constante do paciente.

Identification of genomic imbalances in oral clefts

Abstract Objective This article presents a clinical and cytogenomic approach that focuses on the diagnosis of syndromic oral clefts (OCs). Methods The inclusion criteria were individuals with OC presenting four or more minor signs and no major defects (non-syndromic oral clefts [NSOCs]) as well as individuals with OC presenting at least another major defect, regardless of the number of minor signs (syndromic oral clefts [SOCs]). The exclusion criteria included NSOC with less than four minor signs, SOC with known etiology, as well as atypical oral clefts. Results Of 1647 individuals with OC recorded in the Brazilian Database of Craniofacial Anomalies, 100 individuals were selected for chromosome microarray analysis (CMA). Among these, 44 individuals were clinically classified as NSOC and 56 as SOC. CMA was performed for both groups, and abnormal CMA was identified in 9%, all previously classified as SCO. The clinical and CMA data analyses showed a significant predominance of abnormal CMA in individuals classified as SOC (p = 0.0044); prematurity, weight, length, and head circumference at birth were significantly lower in the group with abnormal CMA. Besides, minor signs were significantly higher in this group (p = 0.0090). Conclusion The rigorous selection of cases indicates that the significant variables could help in early recognition of SOC. This study reinforces the importance of applying the CMA technique to establish the diagnosis of SOC. This is an important and universal issue in clinical practice for intervention, care, and genetic counseling.

Craniofacial microsomia: Reflections on diagnosis and severity assessment based on a series of cases.

This study aims to discuss diagnostic criteria and severity assessment for craniofacial microsomia (CFM). A series of 61 patients with diverse CFM phenotypes had their clinical data collected by experienced dysmorphologists using a single protocol. Genetic abnormalities were searched through karyotype and chromosomal microarray analysis. Sex ratio, prenatal risk factors, and recurrence rate corroborated the literature. Despite the wide variability of clinical findings, ear disruption was universal. Eight patients were assigned as syndromic, four of whom had demonstrable genetic alterations. The majority of patients (67.2%) fulfilled four known diagnostic criteria, while 9.8% fulfilled one of them. Data strengthened disruptions of the ear and deafness as a semiotically valuable sign in CFM. Facial impairment should consider asymmetry as a mild expression of microsomia. Spinal and cardiac anomalies, microcephaly, and developmental delay were prevalent among extra craniofacial features and should be screened before planning treatment and follow up. The severity index was able to recognize the less and the most affected patients. However, it was not useful to support therapeutic decisions and prognosis in the clinical scenario due to syndromic and non-syndromic phenotypes overlapping. These issues make contemporary the debate on diagnostic methods and disease severity assessment for CFM. They also impact care and etiopathogenetic studies.

Neurological growth and development of children asymptomatic at birth whose mothers had Zika during pregnancy

Abstract INTRODUCTION: Newborn who had Zika vírus but did not show microcephaly at birth may have neuropsychomotor development problems. We aimed to evaluate the developmental and anthropometric milestones of asymptomatic children whose mothers had Zika during pregnancy in Northeastern Brazil in 2015 and 2016. METHODS: We conducted a descriptive cross-sectional case series study of children in Fortaleza born without microcephaly whose mothers had Zika during pregnancy. Home visits were undertaken to evaluate the developmental milestones and gather anthropometric data of the children and to conduct semi-structured interviews with the mothers to identify their socioeconomic and gestational profiles and assess the newborns after birth. RESULTS: In total, 30 cases were identified. Of these, 17 children and their mothers participated in the study. The median age of the mothers at the time of delivery was 26 years. All were symptomatic, and TORCH was negative. At the time of the home visit, all had growth profiles suitable for their age. However, nearly all children (15/17, 88.2%) presented at least one developmental delay, considering their age group. CONCLUSIONS: There were late changes in the neuropsychomotor development of children born to mothers who had Zika during pregnancy, suggesting the need for specialized medical follow-ups.

Genomic imbalances in craniofacial microsomia.

The aim of this study was to perform 22q11.2 deletion screening and chromosomal microarray analysis (CMA) in individuals clinically diagnosed with craniofacial microsomia (CFM) and review previously published cases of CFM with genomic imbalances. It included 54 individuals who were evaluated by a clinical geneticist. Copy number variants (CNVs) in the 22q11.2 region were investigated by multiplex ligation-dependent probe amplification (MLPA) for all individuals. The CMA was performed only for individuals with additional major features. MLPA revealed pathogenic CNVs at the 22q11 region in 3/54 (5.6%) individuals. CMA revealed pathogenic CNVs in 4/17 (23.5%) individuals, including the three CNVs at the 22q11 region also detected by MLPA, and CNVs classified as variants of unknown significance (VOUS) in 4/17 (23.5%) individuals. Pathogenic alterations were found at the 2p12, 5p15, 13q13, and 22q11 regions. VOUS were found at 3q29, 5q22.2, 5q22.1, and 9p22 regions. All individuals with pathogenic alterations presented additional major features, including congenital heart disease (CHD). The literature review revealed pathogenic CNVs in 17/193 (8.8%) individuals and most of them also presented additional major features, such as CHD, renal anomalies, or developmental delay. In conclusion, CNVs should be investigated in patients with CFM and additional major features.

A síndrome de Cri Du Chat em adolescentes / The Cri du Chat syndrome in adolescents

Introdução: A síndrome do miado do gato ou síndrome 5p é uma doença congênita rara causada por uma anormalidade cromossômica. Relato do caso: Apresentamos o caso de uma paciente de 13 anos com características dismórficas leves. O retardo mental era grave, com comportamento mal adaptativo e hiperatividade. O diagnóstico citogenético da anormalidade cromossômica 46 XX del 5pter-->p13 foi estabelecido. Conclusão: O diagnóstico precoce dessa doença é necessário para a qualidade de vida dos pacientes, mas esse diagnóstico é difícil de ser realizado em pacientes que foram vistos, pela primeira vez, em idade mais avançada.

Introduction: Cat cry syndrome or 5p- syndrome is a rare congenital disease caused by a chromosomal abnormality. Case report: The case of a thirteen-year-old female patient with mild dysmorphic features is presented. Mental retardation is severe, with maladaptive behavior and hyperactivity. The cytogenetic diagnosis of chromosomal abnormality karyotype 46 XX del 5pterp13 has been established. Conclusions: We concluded that early diagnosis of this disease is necessary for patients' quality of life, but this diagnosis is difficult to make in patients who were first seen at an older age.

A large family with CYLD cutaneous syndrome: medical genetics at the community level.

Germline mutations in the cylindromatosis gene (CYLD) are associated with a rare autosomal dominant disease known as CYLD cutaneous syndrome (CCS). Patients present multiple neoplasms originating from skin appendages. Here, we investigated the main clinical and molecular features of a large family with CCS having lived in a small Brazilian town for 6 generations, making its prevalence significantly high. We observed a predominance of the disease among males and a wide phenotypic variation. A high frequency of basal cell carcinomas among affected people was found. The mutation c.2806C>T, p.Arg936* in the CYLD gene was detected in all patients. In this work, a geographical cluster of CCS was found, which raised some community genetics issues related not only to the high prevalence of a rare disease in a limited area but also to the strong social stigma associated with the disease.

Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.

BACKGROUND: Hepatic glycogen storage diseases (GSDs) are a group of rare genetic disorders in which glycogen cannot be metabolized to glucose in the liver because of enzyme deficiencies along the glycogenolytic pathway. GSDs are well-recognized diseases that can occur without the full spectrum, and with overlapping in symptoms. METHODS: We analyzed a cohort of 125 patients with suspected hepatic GSD through a next-generation sequencing (NGS) gene panel in Ion Torrent platform. New variants were analyzed by pathogenicity prediction tools. RESULTS: Twenty-seven new variants predicted as pathogenic were found between 63 variants identified. The most frequent GSD was type Ia (n = 53), followed by Ib (n = 23). The most frequent variants were p.Arg83Cys (39 alleles) and p.Gln347* (14 alleles) in G6PC gene, and p.Leu348Valfs (21 alleles) in SLC37A4 gene. CONCLUSIONS: The study presents the largest cohort ever analyzed in Brazilian patients with hepatic glycogenosis. We determined the clinical utility of NGS for diagnosis. The molecular diagnosis of hepatic GSDs enables the characterization of diseases with similar clinical symptoms, avoiding hepatic biopsy and having faster results.

Dental alterations on panoramic radiographs of patients with osteogenesis imperfecta in relation to clinical diagnosis, severity, and bisphosphonate regimen aspects: a STROBE-compliant case-control study.

OBJECTIVE: This study aimed to assess the prevalence of dental findings on panoramic radiographs (PRs) of patients with osteogenesis imperfecta (OI) and correlate these results with epidemiologic and medical data. STUDY DESIGN: A case-control study was conducted with 24 patients with OI and 48 sex- and age-matched controls. Demographic, clinical, and bisphosphonate regimen-related data were recorded. The outcome variables were the presence or absence of dental alterations in PRs. Mann-Whitney U test, Pearson's χ2 test, and multinomial logistic regression analysis (95% confidence interval) were used (significance level of 5%). RESULTS: OI type 4 demonstrated a high prevalence (62.5%), followed by type 1 (37.5%). With regard to prevalence associated with severity, the moderate form was the most prevalent (P = .028). The mean time of intravenous pamidronate regimen was 6.6 ± 4.4 years. Dentinogenesis imperfecta was observed in 75% of patients with OI, and this group showed a high prevalence of dental abnormalities in comparison with controls (P < .05). Bisphosphonate therapy was associated with ectopic teeth (P = .007) and tooth impaction (P = .033). Pulp obliteration was significant with bisphosphonate treatment over a period of 7 years (P = .026). CONCLUSIONS: This study found a significant prevalence of dental alterations in patients with OI, and certain alterations were associated with bisphosphonate therapy, indicating its influence on the dentin-related physiopathology.

Fenilcetonúria associada à alergia à proteína do leite de vaca / Phenylketonuria Associated with Cow Milk Protein Allergy

Introdução: a fenilcetonúria (PKU) é uma doença do metabolismo da fanilalanina cujo tratamento se baseia na introdução precoce de uma fórmula com restrição de fenilalanina. Relato do caso: uma menina, com diagnóstico de PKU a partir da triagem neonatal, com 82 dias de vida, recebeu tratamento dietético com fórmula com restrição de fenilalanina associada à fórmula láctea e desenvolveu alergia à proteína do leite de vaca (APLV) com sintomas cutâneos e gastrointestinais. Conclusão: o manejo dietético da PKU pode precipitar a ocorrência da APLV.

Introduction: Phenylketonuria (PKU) is a disease of the metabolism of phanylalanine whose treatment is based on the early introduction of a phenylalanine-restricted formula. Case report: A girl with 82 days of life with PKU diagnosis from neonatal screening received dietary treatment with a phenylalanine-restricted formula associated with the milk formula. She developed allergy to cow's milk protein (APLV) with cutaneous symptoms and gastrointestinal disorders. Conclusion: Dietary management of PKU may precipitate the occurrence of APLV.

Hearing Screening in children with Congenital Zika Virus Syndrome in Fortaleza, Ceará, Brazil, 2016. / Triagem auditiva de crianças com síndrome congênita pelo vírus Zika atendidas em Fortaleza, Ceará, 2016.

OBJECTIVE: to describe the results of hearing screening performed in children with Congenital Zika Virus Syndrome (CZS) in Fortaleza, Ceará, Brazil. METHODS: this was a descriptive cross-sectional study involving children with CZS receiving health care in Fortaleza, 2016; the hearing screening tests performed were immittance audiometry, transient otoacoustic emissions (TOAE), acoustic reflexes, and cochleopalpebral reflex (CPR). RESULTS: The study included 45 children with an average age of 10 months. 44 of them underwent tympanometric screening, with 16 of these having the right ear within the normal range and 22 having the left ear within the normal range. Among the 43 children evaluated by TOAE, 30 "passed" in both ears, nine "refered" in both ears and four "refered" just in ear; 13/43 "refered" and needed to repeat screening. 43 children evaluated by CPR, 37 showed responses. CONCLUSION: most of the children evaluated had completed cochlear function and middle ear results refer in compatible with their age range.

Abortion in cases of zika virus congenital infection / Aborto nos casos de infecção congênita pelo vírus Zika

Abstract The emergency in international public health caused by the Zika virus gave rise to the discussion about abortion in cases of congenital Zika virus syndrome (CZS). Therefore, we propose to carry out a bibliographic review on abortion in these cases. Five databases were searched using the following terms: abortion, miscarriage, and zika, with the interposition of the Boolean operator "AND." In the selected literature, we found references to the lack of information concerning the risks and severity of CZS, to the great psychological distress suffered by pregnant women, and to the risk of unsafe abortions as a justification for abortion in cases of CZS. However, it is necessary to have available tests that could diagnose, in the first trimester of pregnancy, that the fetus has been affected by the virus, and that it may have important limitations, in order to subsidize the qualified discussion about abortion in these cases.

Resumo A emergência provocada na saúde pública internacional por causa do vírus Zika trouxe à tona a discussão do aborto em casos de síndrome congênita de Zika. Portanto, propomos a realização de uma revisão bibliográfica sobre o aborto nesses casos. Foram pesquisados cinco bancos de dados utilizando os seguintes termos: aborto, aborto espontâneo, e zika, com interposição do operador booleano "E". Na literatura selecionada, encontramos referências à falta de informações sobre os riscos e a gravidade da síndrome congénita de Zika, bemcomo ao grande sofrimento psicológico de mulheres grávidas e ao risco de aborto inseguro como justificativa para o aborto em casos de síndrome congênita de Zika. No entanto, é necessário ter testes disponíveis que possam diagnosticar, no primeiro trimestre da gravidez, que o feto foi afetada pelo vírus, e que ele pode ter limitações importantes, para subsidiar a discussão qualificada sobre o aborto nesses casos.

Hydrocephalus associated to congenital Zika syndrome: does shunting improve clinical features?

PURPOSE: Congenital Zika syndrome (CZS) is a new entity with little information about its course and natural history. It is known that prenatal infection by Zika virus is associated to disrupted nervous system development, leading to typical neurological disabilities and deformities. Some children present progressive ventriculomegaly and hydrocephalus associated to aggravation of seizures and neurological impairment. The aim of this study is to evaluate the development of hydrocephalus and the impact of ventriculoperitoneal shunt insertion in the clinical condition of these children. METHODS: Data was obtained from chart review, direct interviews with patients' parents, direct neurological examination, and analysis of pre- and postoperative neuroimages. RESULTS: A group of 115 patients had CZS diagnosis from November 2015 to July 2017. Among them, 21 (18.3%) patients had ventricular enlargement noted on follow-up CT scans. Six children (28.6%) underwent a ventriculoperitoneal shunt and all had some improvement after surgery concerning either waking time during the day and better interaction. Overall improvement was also noted in seizures. Spasticity decrease and more cervical control were also achieved. In two out of six cases, a slight increase in parenchymal length could be noted on the CT scans. CONCLUSION: This series points out the possibility of hypertensive hydrocephalus development in CZS patients. Affected children may benefit from VP shunt insertion. These findings suggest a dual pathology association: fetal brain disruption and primary cortical malformation by the virus itself and hypertensive hydrocephalus. This is already seen in some cases of congenital rubella, toxoplasmosis, or cytomegalovirus-associated hydrocephalus.

Triagem auditiva de crianças com síndrome congênita pelo vírus Zika atendidas em Fortaleza, Ceará, 2016 / Triagem auditiva de niños con síndrome de Zika Virus Congénita en Fortaleza, Ceará, Brasil, 2016 / Hearing Screening in children with Congenital Zika Virus Syndrome in Fortaleza, Ceará, Brazil, 2016

Objetivo: descrever resultados da triagem auditiva em crianças com síndrome congênita pelo vírus Zika (SCZ) atendidas em Fortaleza, Ceará, Brasil. Métodos: estudo transversal descritivo envolvendo crianças com SCZ atendidas durante o II Mutirão de Zika, em Fortaleza, em dezembro de 2016; os exames realizados na triagem auditiva foram imitanciometria, emissões otoacústicas transientes (EOAT), reflexos acústicos e reflexo cócleo-palpebral (RCP). Resultados: foram incluídas 45 crianças com idade média de 10 meses. Destas, 44 realizaram triagem timpanométrica, das quais 16 se apresentaram dentro da normalidade na orelha direita e 22 na orelha esquerda. Entre as 43 crianças avaliadas pelas EOAT, 30 "passaram" nas duas orelhas, nove "falharam" nas duas orelhas e quatro "falharam" em uma orelha; 13/43 falharam, sendo necessário repetir a triagem. Das 43 crianças avaliadas pelo RCP, 37 apresentaram respostas presentes. Conclusão: a maioria das crianças apresentou função coclear íntegra e alterações de orelha média compatíveis com a faixa etária.

Objetivo: describir los resultados de un cribado auditiva en niños con síndrome congénito del virus Zika (SCZ) en Fortaleza, Ceará, Brasil. Métodos: estudio transversal donde participaron niños con SCZ atendidos en Fortaleza, 2016; fueron evaluados mediante immittanciometría, emisiones otoacústicas transitorias (TEOAE), reflejos acústicos y reflejo cocleo-párpado. Resultados: 45 niños con una edad media de 10 meses; entre las 44 orejas del lado derecho, 16 niños se encontraban normal y 28 fallaron a la detección timpanométrica; para el oído izquierda, 22 niños estaban dentro del rango normal y 22 presentaban fallas; entre los 43 niños evaluados por TEOAE, 30 "pasaron" en ambas orejas, nueve "fallaron" en ambas y cuatro "fallaron" en una; 13/43 fallaron, necesitando repetir la clasificación; de los 43 niños evaluados mediante RCP, 37 presentaron las respuestas actuales. Conclusión: la mayoría de los niños tenían una función coclear completa y cambios en el oído medio compatibles con el grupo de edad.

Objective: to describe the results of hearing screening performed in children with Congenital Zika Virus Syndrome (CZS) in Fortaleza, Ceará, Brazil. Methods: this was a descriptive cross-sectional study involving children with CZS receiving health care in Fortaleza, 2016; the hearing screening tests performed were immittance audiometry, transient otoacoustic emissions (TOAE), acoustic reflexes, and cochleopalpebral reflex (CPR). Results: The study included 45 children with an average age of 10 months. 44 of them underwent tympanometric screening, with 16 of these having the right ear within the normal range and 22 having the left ear within the normal range. Among the 43 children evaluated by TOAE, 30 "passed" in both ears, nine "refered" in both ears and four "refered" just in ear; 13/43 "refered" and needed to repeat screening. 43 children evaluated by CPR, 37 showed responses. Conclusion: most of the children evaluated had completed cochlear function and middle ear results refer in compatible with their age range.

From the perception of a cluster of cases of children with microcephaly to congenital Zika syndrome in Brazil: the lessons we have learned and the challenges that lie ahead of us

A little more than a year ago, physicians and researchers from the northeastern region of Brazil raised the hypothesis of an association between microcephaly cases in newborns and a possible Zika virus infection in their mothers during pregnancy. Common phenotypic features called the attention of the discerning eyes of geneticists, already used to this type of observation [1]. In those cases, records of exanthematous disease during pregnancy were found in the anamnesis. Moreover, radiology images revealed findings that although resembled some other TORCH, they had their particularities in common. Initially, a recurrent pattern in computerized tomography of the skulls was described, which led physicians to classify the set of findings as the emergence of a new disease.(AU)