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Background Fabry disease (FD) is a rare, X-linked, multisystemic lysosomal storage disorder (LSD) that results from a deficiency in the hydrolase alpha-galactosidase A (⍺-GalA). During childhood, classic FD symptomatology is rare. The majority of children may show non-specific symptoms, including in the musculoskeletal system. The prevalence of FD among juvenile idiopathic arthritis (JIA) patients is unknown. Objective This study aimed to identify the frequency of FD in a JIA cohort, characterizing early clinical symptoms, enzyme titers, and GLA genotyping. Methods Children with JIA followed in a tertiary Children Hospital cohort were selected. Clinical, laboratory and familiar information were recorded. Molecular genetic testing to detect GLA gene mutations was performed in girls and enzymatic analysis in boys. Results In 89 patients (56.2% female, age at disease onset: 8.93 ± 4.35 years), one male (1.12%) patient presented pathogenic mutation in GLA gene, c.1244 T > C p.L415P, one female patient had a variant of uncertain significance c.38C > T (p.Ala13Val). Three additional (3.4%) patients had the enzymatic activity of alpha-galactosidase slightly decreased. We observed the presence of intronic variants in 44.44% of patients in our cohort: c.1000-22C > T; c.370-81_-77del; c.640-16A > G; c.10C > T; c.548-125C > G and c.-12G > A. These variants and their combination were associated with clinical symptoms in our cohort. Conclusions The incidence of FD in our cohort was 1.12%. Intronic variants were associated with symptoms previously described in the literature. Screening for FD in JIA may be a reasonable strategy for those with an atypical pattern of pain.

Congenital Zika syndrome (CZS) constitutes a recently identified malformation caused by Zika virus infection during pregnancy. Limited data is available to date on the facial dysmorphic features of these patients. This study evaluated the facial dysmorphisms of children with CZS, compared with clinically healthy children, using clinical examination and standardized photographic images. Sixty-three children with CZS (9.70 ± 3.2 months-age), and 31 Controls (8.67 ± 6.2 months-age) joined the study. Seven out of 15 indices differed between groups: midfacial height (MFH)/horizontal facial reference (HFR) (p = .0003), interalar distance/HFR (p = .0027), nasal root depth/MFH (p = .0030), posterior nasal length/MFH (p = .0002), vertical position of the ear/MFH (p

To describe the prevalence and risk factors associated with corneal vortex keratopathy in a childhood-onset systemic lupus erythematosus (c-SLE) cohort. Consecutive outpatients with c-SLE were evaluated by a pediatric ophthalmologist and pediatric rheumatologist in an outpatient clinic setting in an urban Children’s Hospital. Demographic, clinical, laboratory, and disease characteristics were documented for each patient. Cumulative drug dosage, Systemic Lupus Erythematosus Disease Activity Index (SLEDAI), and Systemic Lupus Erythematosus International Collaborating Clinics/American College of Rheumatology damage index (SLICC/ACR-DI) scores were calculated. A total of 76 c-SLE patients (61 (80.26%) females; mean age = 17.9 (SD ± 3.07)) were included. Ophthalmologic abnormalities were observed in 36 (47.36%) patients of which 16 (21.10%) had corneal vortex keratopathy (p = 0.03). c-SLE patients with corneal vortex keratopathy were all female. We did not observe any additional clinical, laboratory, or treatment feature associated with corneal vortex keratopathy. We observed a high prevalence of corneal vortex keratopathy in female c-SLE. We hypothesize that this finding may be an initial, dose-related toxicity due to antimalarial use. Follow-up studies are necessary to determine if these changes are an early predictor of retinal toxicity due to antimalarial in c-SLE. • Corneal vortex keratopathy was frequently observed in female patients with c-SLE on a chloroquine medication. • Corneal vortex keratopathy may be an early marker of chloroquine retinopathy.

In October 2015, Zika virus (ZIKV) outbreak the Brazilian Ministry of Health (MoH). In response, the Brazilian Society of Medical Genetics established a task force (SBGM-ZETF) to study the phenotype of infants born with microcephaly due to ZIKV congenital infection and delineate the phenotypic spectrum of this newly recognized teratogen. This study was based on the clinical evaluation and neuroimaging of 83 infants born during the period from July, 2015 to March, 2016 and registered by the SBGM-ZETF. All 83 infants had significant findings on neuroimaging consistent with ZIKV congenital infection and 12 had confirmed ZIKV IgM in CSF. A recognizable phenotype of microcephaly, anomalies of the shape of skull and redundancy of the scalp consistent with the Fetal Brain Disruption Sequence (FBDS) was present in 70% of infants, but was most often subtle. In addition, features consistent with fetal immobility, ranging from dimples (30.1%), distal hand/finger contractures (20.5%), and feet malpositions (15.7%), to generalized arthrogryposis (9.6%), were present in these infants. Some cases had milder microcephaly or even a normal head circumference (HC), and other less distinctive findings. The detailed observation of the dysmorphic and neurologic features in these infants provides insight into the mechanisms and timings of the brain disruption and the sequence of developmental anomalies that may occur after prenatal infection by the ZIKV.

Congenital Zika virus infection can cause microcephaly and severe brain abnormalities (1). Congenital Zika syndrome comprises a spectrum of clinical features (2); however, as is the case with most newly recognized teratogens, the earliest documented clinical presentation is expected to be the most severe. Initial descriptions of the effects of in utero Zika virus infection centered prominently on the finding of congenital microcephaly (3). To assess the possibility of clinical presentations that do not include congenital microcephaly, a retrospective assessment of 13 infants from the Brazilian states of Pernambuco and Ceara with normal head size at birth and laboratory evidence of congenital Zika virus infection was conducted. All infants had brain abnormalities on neuroimaging consistent with congenital Zika syndrome, including decreased brain volume, ventriculomegaly, subcortical calcifications, and cortical malformations. The earliest evaluation occurred on the second day of life. Among all infants, head growth was documented to have decelerated as early as 5 months of age, and 11 infants had microcephaly. These findings provide evidence that among infants with prenatal exposure to Zika virus, the absence of microcephaly at birth does not exclude congenital Zika virus infection or the presence of Zika-related brain and other abnormalities. These findings support the recommendation for comprehensive medical and developmental follow-up of infants exposed to Zika virus prenatally. Early neuroimaging might identify brain abnormalities related to congenital Zika infection even among infants with a normal head circumference (4).

Defeitos refrativos não corrigidos em crianças podem gerar alterações nas funções visuais e afetar sua educação acadêmica futura bem como o seu desenvolvimento neuropsicomotor. Erros refrativos são de fácil diagnóstico e correção. Deve ser realizado exame oftalmológico com testes de medição de acuidade visual, diagnóstico dos defeitos refrativos e a prescrição das lentes adequadas para minimizar essas importantes consequências no desenvolvimento da criança. Uncorrected refractive errors in children may generate abnormalities in visual function and affect their future academic studies, as well as their neuromotor development. Refractive errors are easy to diagnose and correct. An ophthalmologic examination with visual acuity measurements should be performed to arrive at a diagnosis of refractive error. Lenses should then be prescribed which could minimize these serious consequences for childhood development. Defectos refractivos no corregidos en niños pueden generar alteraciones en las funciones visuales y afectar su educación académica futura, así como su desarrollo neuropsicomotor. Errores refractivos son de fácil diagnóstico y corrección. Se debe realizar un examen oftalmológico con pruebas de medición de acuidad visual, diagnóstico de los defectos refractivos y la prescripción de los lentes adecuados para mitigar esas importantes consecuencias en el desarrollo del niño.