A Novel Radiologic Finding to Predict Ophthalmic Abnormalities in Children With Congenital Zika Syndrome.

BACKGROUND: The Zika virus (ZIKV) epidemic had devastating consequences in Brazil. We investigated whether a radiologic finding (ie, infratentorial abnormalities) was associated with sight-threatening defects in children born with congenital Zika syndrome (CZS). We also investigated whether ophthalmic abnormalities correlated with head circumference (HC) and gestational age of infection. METHODS: Cross-sectional evaluation based upon a previous cohort from March 2016 to December 2018, in Paraíba, Brazil. The study population was comprised of children born to mothers with laboratory-confirmed ZIKV infection during pregnancy (ZIKV reverse transcriptase polymerase chain reaction [RT-PCR]+) and children born with clinical and radiologic features of CZS. RESULTS: A total of 75 infants had complete data. All 75 had brain calcifications. Microcephaly was present in 53 (71%) of them. Infratentorial abnormalities were present in 17 infants (22.7%). Ophthalmic abnormalities were seen in 16 of the 17 children (94%) with infratentorial abnormalities, while 28% of children without infratentorial abnormalities had ophthalmic findings (odds ratio [OR]: 42.0; 95% confidence interval [CI]: 5.1-342.9). Similar associations were observed when macular chorioretinal atrophy and optic nerve abnormalities were analyzed individually (OR: 23.7; 95% CI: 6.0-93.3 and OR: 11.5; 95% CI: 3.3-40.0, respectively). Infratentorial abnormalities were more frequently associated with ophthalmic abnormalities (94%) than microcephaly (43.4%) (P < .001). Mean HC was statistically different between groups with and without ophthalmic abnormalities (P = .01). A statistically significant difference in gestational age between both groups was not noted (P = .12). CONCLUSIONS: In children with CZS, the presence of infratentorial abnormalities is a significant predictor of ophthalmic abnormalities. All neonates whose mothers had ZIKV exposure during pregnancy should have an ophthalmologic examination.

Congenital Zika Virus Infection: Beyond Neonatal Microcephaly.

IMPORTANCE: Recent studies have reported an increase in the number of fetuses and neonates with microcephaly whose mothers were infected with the Zika virus (ZIKV) during pregnancy. To our knowledge, most reports to date have focused on select aspects of the maternal or fetal infection and fetal effects. OBJECTIVE: To describe the prenatal evolution and perinatal outcomes of 11 neonates who had developmental abnormalities and neurological damage associated with ZIKV infection in Brazil. DESIGN, SETTING, AND PARTICIPANTS: We observed 11 infants with congenital ZIKV infection from gestation to 6 months in the state of Paraíba, Brazil. Ten of 11 women included in this study presented with symptoms of ZIKV infection during the first half of pregnancy, and all 11 had laboratory evidence of the infection in several tissues by serology or polymerase chain reaction. Brain damage was confirmed through intrauterine ultrasonography and was complemented by magnetic resonance imaging. Histopathological analysis was performed on the placenta and brain tissue from infants who died. The ZIKV genome was investigated in several tissues and sequenced for further phylogenetic analysis. MAIN OUTCOMES AND MEASURES: Description of the major lesions caused by ZIKV congenital infection. RESULTS: Of the 11 infants, 7 (63.6%) were female, and the median (SD) maternal age at delivery was 25 (6) years. Three of 11 neonates died, giving a perinatal mortality rate of 27.3%. The median (SD) cephalic perimeter at birth was 31 (3) cm, a value lower than the limit to consider a microcephaly case. In all patients, neurological impairments were identified, including microcephaly, a reduction in cerebral volume, ventriculomegaly, cerebellar hypoplasia, lissencephaly with hydrocephalus, and fetal akinesia deformation sequence (ie, arthrogryposis). Results of limited testing for other causes of microcephaly, such as genetic disorders and viral and bacterial infections, were negative, and the ZIKV genome was found in both maternal and neonatal tissues (eg, amniotic fluid, cord blood, placenta, and brain). Phylogenetic analyses showed an intrahost virus variation with some polymorphisms in envelope genes associated with different tissues. CONCLUSIONS AND RELEVANCE: Combined findings from clinical, laboratory, imaging, and pathological examinations provided a more complete picture of the severe damage and developmental abnormalities caused by ZIKV infection than has been previously reported. The term congenital Zika syndrome is preferable to refer to these cases, as microcephaly is just one of the clinical signs of this congenital malformation disorder.

Síndrome Sjögren - Larsson / Sjögren - Larsson syndrome

Relatam-se os casos de dois irmãos consanguíneos com síndrome de Sjögren- Larsson, enfatizando a importância clínica do exame oftalmológico. BPLS, masculino, 11 anos e MBLS, feminino, 10 anos, irmãos de pais não-consanguíneos, apresentando ictiose congênita, diplegia espástica e retardo mental. Ao exame oftalmológico, apresentavam miopia, fotofobia, baixa acuidade visual. A fundoscopia, presença de cristais branco-amarelados em área foveal e parafoveal em ambos os olhos. Aconselhamento genético foi realizado. O manejo foi de suporte. A Síndrome de Sjögren-Larsson é uma rara doença autossômica recessiva em que há 100 por cento de penetrância. Síndrome de Sjögren-Larsson é classicamente caracterizada por ictiose, espasticidade e deficiência mental. A doença é causada por mutações no gene aldeído desidrogenase. As alterações oculares observadas são geralmente bilaterais, cristais branco-amarelados em área retiniana, que aparecem nos dois primeiros anos de vida e que vão aumentando em número com a idade. As anormalidades oculares não têm relação com a severidade da ictiose ou com as anormalidades neurológicas. Acredita-se que as lesões oftalmológicas sejam um sinal patognomônico da síndrome. É necessário enfatizar a importância do diagnóstico precoce e possibilidades de tratamento dietético.

Sjogren - Larsson syndrome is a rare autosomal recessively inherited neurocutaneous disorder which occurs with 100 percent penetrance and is classically characterized by ichthyosis, spasticity and mental handicap. The disease is caused by mutations in the aldehyde dehydrogenase gene. The ocular manifestations are highly characteristic bilateral, glistening yellow-white retinal dots from the age of 1 to 2 years onward. The number of dots increases whit age. The extent of the macular abnormality does not correlate with the severity of the ichthyosis or with the severity of the neurological abnormalities. We report the clinical characteristics and ocular manifestations associated with the Sjögren-Larsson syndrome in two siblings, emphasizing the clinical importance of the ophthalmological examination of the Sjögren-Larsson syndrome. BPLS, a eleven year old boy and MPLS, a ten year old girl from non-consanguinous parents, presenting congenital ichthyosis, spastic diplegia and mental retardation. Miopia, fotofobia, subnormal visual acuity and glistening yellow-white crystalline deposits that were located in the foveal and parafoveal area were found in the ophthalmologic examination.