ABSTRACT
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 (âº-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.
Subject(s)
Arthritis, Juvenile/complications , Fabry Disease/complications , Fabry Disease/epidemiology , Child , Child, Preschool , Fabry Disease/genetics , Female , Humans , Male , MutationABSTRACT
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 <.0001), ear length/MFH (p = .0005), chin height/total facial height (CH/TFH) (p <.0001). A CH/TFH of 0.229 showed 93.9% sensitivity and 80.6% specificity in diagnosing CZS. Children with CZS had broad, short faces, decreased intercanthal distance, short posterior nasal length, prominent nasal root, broad nasal wings, and high-set and long ears. Increased chin height index provided the most accurate diagnostic potential.
Subject(s)
Face/abnormalities , Microcephaly/genetics , Zika Virus Infection/diagnosis , Zika Virus Infection/genetics , Face/diagnostic imaging , Female , Humans , Infant , Male , Microcephaly/diagnosis , Microcephaly/physiopathology , Pregnancy , Zika Virus/genetics , Zika Virus/pathogenicity , Zika Virus Infection/pathology , Zika Virus Infection/virologyABSTRACT
OBJECTIVE: To describe the prevalence and risk factors associated with corneal vortex keratopathy in a childhood-onset systemic lupus erythematosus (c-SLE) cohort. MATERIAL AND METHODS: 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. RESULTS: 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. DISCUSSION: 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. KEY POINTS: ⢠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.
Subject(s)
Corneal Diseases/complications , Corneal Diseases/immunology , Lupus Erythematosus, Systemic/complications , Lupus Erythematosus, Systemic/immunology , Adolescent , Age of Onset , Child , Chloroquine/therapeutic use , Comorbidity , Female , Follow-Up Studies , Humans , Male , Ophthalmology , Outpatients , Prevalence , Retrospective Studies , Risk Factors , Severity of Illness Index , Sex Factors , Young AdultABSTRACT
PURPOSE: To describe and analyze ocular features in infants with microcephaly due to presumed congenital Zika syndrome. METHODS: Ophthalmologic evaluation, including indirect ophthalmoscopy and eye fundus imaging, visual acuity testing with Teller Acuity Cards, and strabismus assessment were performed in infants with microcephaly at a nongovernmental organization clinic for visually disabled children. RESULTS: A total of 70 infants with microcephaly were referred to the clinic. Of these, 25 (mean age, 3 months; 14 males) had ophthalmologic changes: 18 (26%) had intraocular abnormalities, including macular chorioretinal atrophy, mottled retinal pigment epithelium and optic nerve pallor; 7 patients (10%) had strabismus or nystagmus without intraocular abnormalities. Visual acuity was below normal range in all 11 infants tested. CONCLUSIONS: Ophthalmologic abnormalities occurred in 36% of the patients. Macular circumscribed chorioretinal atrophy, focal mottled retinal pigment epithelium, optic nerve pallor, early-onset strabismus, nystagmus and low visual acuity were common ophthalmological features in infants with microcephaly due to presumed congenital Zika syndrome.
Subject(s)
Eye Abnormalities/virology , Microcephaly/virology , Vision Disorders/virology , Zika Virus Infection/congenital , Eye Abnormalities/physiopathology , Female , Humans , Infant , Male , Microcephaly/physiopathology , Nystagmus, Congenital/physiopathology , Nystagmus, Congenital/virology , Ophthalmoscopy , Strabismus/congenital , Strabismus/physiopathology , Strabismus/virology , Vision Disorders/physiopathology , Visual Acuity/physiology , Visually Impaired Persons , Zika Virus Infection/physiopathologyABSTRACT
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.
Subject(s)
Disease Outbreaks , Fetal Diseases/epidemiology , Microcephaly/epidemiology , Pregnancy Complications, Infectious/epidemiology , Zika Virus Infection/epidemiology , Antibodies, Viral/cerebrospinal fluid , Brain/abnormalities , Brain/virology , Brazil/epidemiology , Female , Fetal Diseases/diagnostic imaging , Fetal Diseases/pathology , Fetus , Humans , Immunoglobulin G/cerebrospinal fluid , Infant , Microcephaly/complications , Microcephaly/diagnostic imaging , Microcephaly/pathology , Neuroimaging , Pregnancy , Pregnancy Complications, Infectious/diagnosis , Pregnancy Complications, Infectious/pathology , Syndrome , Zika Virus/growth & development , Zika Virus/immunology , Zika Virus/pathogenicity , Zika Virus Infection/complications , Zika Virus Infection/diagnostic imaging , Zika Virus Infection/pathologyABSTRACT
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 Ceará 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).
Subject(s)
Microcephaly/epidemiology , Zika Virus Infection/congenital , Zika Virus Infection/diagnosis , Zika Virus/isolation & purification , Brazil/epidemiology , Female , Humans , Infant , Infant, Newborn , Male , Pregnancy , Pregnancy Complications, Infectious , Retrospective StudiesABSTRACT
O teste do reflexo vermelho em recém-nascidos é uma forma de avaliação visual, permitindo a identificação precoce de leucocorias, presente frequentemente na catarata congênita, retinoblastoma e retinopatia da prematuridade. Objetivou-se avaliar,em consulta pelo oftalmologista, o resultado da avaliação pelo teste do reflexo vermelho realizado por enfermeiras, consideradosuspeito em um grupo de recém-nascidos. Estudo descritivo, realizado em uma instituição pública, em Fortaleza-CE, de novembro/2005 a março/2006. Foi realizado por duas enfermeiras e uma aluna de enfermagem com 180 recém-nascidos; 24 destes apresentaram coloração do reflexo fora do padrão, sobressaindo-se amarelo com áreas mais esbranquiçadas ao centro ou com presença de rajas. Porém, somente foi possível encaminhamento de seis crianças para oftalmologista. Após fundoscopia,os achados encontrados no teste do reflexo vermelho foram confirmados, porém considerados variações da normalidade. Intervenções multiprofissionais favorecem o desenvolvimento de ações eficazes voltadas à prevenção da cegueira e continuidade do processo de cuidado para essas crianças.
Subject(s)
Humans , Infant, Newborn , Blindness/prevention & control , Retinoblastoma , Eye HealthABSTRACT
O livro tem como Coordenadores Editoriais consagrados especialistas, e a contribuição eficiente de 57 colaboradores. Apresenta os mais modernos e atuais conhecimentos dos problemas oftalmológicos que afetam a criança e o adolescente: sua abordagem, as condutas iniciais, o diagnóstico precoce de afecções que demandarão o imediato encaminhamento ao oftalmologista, e, num capítulo muito especial, o diagnóstico diferencial. O livro é mais uma publicação oficial da Série Atualizações em Pediatria, sob a responsabilidade científica e editorial da Sociedade de Pediatria de São Paulo; têm 30 capítulos, é objetivo, prático, atual, especialmente escrito para o dia a dia da consulta pediátrica no consultório, no ambulatório, no hospital, o que o torna imprescindível como fonte de estudo e aprendizado para o pediatra e para todos vivamente interessados no atendimento das afecções oftalmológicas de nossas crianças e adolescentes
Subject(s)
Humans , Child , Adolescent , Ophthalmology , Eye Diseases , Eye Infections , Eye Abnormalities , Strabismus , Retina/pathology , Cornea/pathology , DyslexiaABSTRACT
O livro tem como Coordenadores Editoriais consagrados especialistas, e a contribuição eficiente de 57 colaboradores. Apresenta os mais modernos e atuais conhecimentos dos problemas oftalmológicos que afetam a criança e o adolescente: sua abordagem, as condutas iniciais, o diagnóstico precoce de afecções que demandarão o imediato encaminhamento ao oftalmologista, e, num capítulo muito especial, o diagnóstico diferencial. O livro é mais uma publicação oficial da Série Atualizações em Pediatria, sob a responsabilidade científica e editorial da Sociedade de Pediatria de São Paulo; têm 30 capítulos, é objetivo, prático, atual, especialmente escrito para o dia a dia da consulta pediátrica no consultório, no ambulatório, no hospital, o que o torna imprescindível como fonte de estudo e aprendizado para o pediatra e para todos vivamente interessados no atendimento das afecções oftalmológicas de nossas crianças e adolescentes.
Subject(s)
Humans , Child , Adolescent , Cornea/pathology , Dyslexia , Eye Abnormalities , Eye Diseases , Eye Infections , Ophthalmology , Retina/pathology , StrabismusABSTRACT
Objetivo: O trabalho propõe-se a mostrar a patogênese de Retinoblastomas que sofreram involução espontânea. Local: Hospital Geral de Fortaleza/SUS e Laboratório Biopse, Fortaleza, Ceará. Método: Exame histopatológico de três bulbos oculares com diagnóstico clínico de retinoblastoma.Conclusão: Dos três casos de retinoblastoma estudados, um ocorreu em olho atrófico. As células neoplasicas vão perdendo a cromatina nuclear, tornando-se claras. Há acúmulo de substância basófila na periferia do núcleo e citoplasma com grânulos basófilos. Estas células vão perdendo a membrana e calcificando-se. As neoplasias que sofreram involução têm o risco de transmissão hereditária do Retinoblastoma, bem como a possibilidade de também manifestar-se no olho contralateral.
Subject(s)
Humans , Male , Female , Calcinosis , Neoplasm Regression, Spontaneous , RetinoblastomaABSTRACT
Objetivo: Avaliar o perfil oftalmológico de estudantes da Alfabetização Solidária no Estado do Ceará, identificar as principais causas de baixa acuidade visual, descrever a experiência e os principais resultados obtidos. Métodos: Foram utilizados para o exame oftalmológico de mil e sete (1007) alunos do Programa Alfabetização Solidária dois refratores automatizados, dois refratores tipo Greens, duas colunas pantográficas, duas cadeiras, quatro oftalmoscópios, uma lâmpada de fenda portátil, dois tonômetros de aplanação, um oftalmoscópio indireto. Participantes: alfabetizadores treinados para medida da acuidade visual, oftalmologistas, residentes de oftalmologia, auxiliares e secretárias. Resultados: Observamos que cerca da metade dos alunos (46 por cento) tinha baixa de acuidade visual (acuidade visual menor que 0,8 em ambos os olhos), 66,33 por cento da população estudada necessitou correção óptica, destes, 37,00 por cento eram présbitas. Predominou a população na faixa de 41 a 50 anos. A maioria da população examinada era do sexo feminino (56 por cento). Trinta e nove por cento da população estudada apresentou alguma doença oftalmológica. Encontramos o pterígio e a catarata como doenças mais freqüentes. Conclusão: O programa deve ter no inicio do seu funcionamento prévio exame oftalmológico dos alunos de cada comunidade, para melhor aproveitamento do conteúdo ensinado, diminuindo desta forma a grande evasão escolar.
Subject(s)
Humans , Male , Female , Child , Adult , Middle Aged , Education , Vision Screening/methods , Visual Acuity , Aged, 80 and over , Brazil , Cataract , Pterygium/diagnosis , UnderachievementABSTRACT
Objetivo: Relato de um caso de um tumor raro de corpo ciliar em uma criança de 3 anos de idade.Local: Sociedade de Assistência aos Cegos; Laboratório de Anatomia Patológica do Hospital Geral de Fortaleza /SUS; Fortaleza, Ceará, Brasil.Método: Relato de caso.Resultado: O estudo anatomotológico do globo ocular revelou a presença de um tumor raro(coristoma adiposo) no corpo ciliar.Conclusäo: O achado de extrema raridade mostra a possibilidade de se encontrar tecido coristomatoso intra-ocular diferente de tecido de glândula lacrimal.
Subject(s)
Humans , Male , Child, Preschool , Choristoma/diagnosis , Ciliary Body/pathology , Lacrimal Apparatus , Neoplasms/complicationsABSTRACT
Os autores apresentam um caso de Meduloepitelioma malígno que se exteriorizou após alguns anos de evoluçäo, seguindo-se a uma cirurgia antiglaucomatosa, o que pode ter sido o fator para a sua evoluçäo fatal
