Subject(s)
Humans , Female , Child, Preschool , Child , Aortic Coarctation/complications , Eye Abnormalities/complications , Neurocutaneous Syndromes/complications , Hearing Loss, Conductive/etiology , Aortic Coarctation/diagnosis , Aortic Coarctation/pathology , Syndrome , Eye Abnormalities/diagnosis , Eye Abnormalities/pathology , Neurocutaneous Syndromes/diagnosis , Neurocutaneous Syndromes/pathology , Otoscopy , Hearing Loss, Conductive/diagnosis , Hemangioma/pathology , Angiomatosis/pathologyABSTRACT
RESUMO A síndrome de Joubert (SJ) é uma condição genética heterogênea, rara, do grupo das ciliopatias. Mais de 20 genes foram identificados relacionados com este fenótipo. As principais manifestações incluem hipotonia, ataxia, atraso psicomotor, apraxia oculomotora e anormalidades respiratórias neonatais. O objetivo deste artigo foi apresentar achados de linguagem e neurodesenvolvimento de um indivíduo com diagnóstico da SJ. Foi realizada a anamnese, avaliação genética clínica, observação do comportamento comunicativo, avaliação da linguagem, o Teste de Screening de Desenvolvimento Denver-II (TSDD-II) e a Early Language Milestone Scale (ELMS). Os principais achados da Ressonância Magnética do encéfalo mostraram grave hipoplasia do vérmis cerebelar, “sinal do dente molar”, tronco cerebral hipoplásico, atrofia dos hemisférios cerebelares. A avaliação da linguagem mostrou ausência de oralidade, prejuízo na recepção da linguagem, confirmando o diagnóstico de transtorno de linguagem, com grau de comprometimento grave. O TSDD-II e a ELMS comprovaram a observação e avaliação clínica e indicaram atraso grave nos domínios motor, autocuidados e de linguagem receptiva e expressiva. Diante da presença de hipotonia, ataxia, atraso psicomotor e anormalidades respiratórias neonatais é imprescindível a realização de exame por imagem e avaliação genética para o diagnóstico desta condição, tão complexa, com necessidades terapêuticas peculiares. Este conjunto de achados, associado à história familial e características fenotípicas peculiares reforçam o diagnóstico genético clínico da SJ. Esta síndrome genética é pouco reconhecida e merece ser apresentada para o reconhecimento da comunidade científica, visando o diagnóstico correto e planejamento terapêutico que minimize os efeitos deletérios desta condição.
ABSTRACT The Joubert syndrome (JS) is a rare, heterogeneous genetic condition among the ciliopathies. More than 20 genes have been identified associated with this phenotype. The main manifestations include hypotonia, ataxia, psychomotor retardation, ocular-motor apraxia and neonatal respiratory abnormalities. The objective of this paper was to present language and neurodevelopmental findings of an individual diagnosed with JS. The following procedures were performed: anamnesis, clinical genetic evaluation observation of communicative behavior, evaluation of language, the Denver Developmental Screening Test II (DDST-II) and the Early Language Milestone Scale (ELMS). The main findings of the MRI brain showed severe hypoplasia of the cerebellar vermis, “molar tooth sign”, hypoplastic brain stem and atrophy of the cerebellar hemispheres. The observation and evaluation of the language showed no oral, impaired reception of language, confirming the diagnosis of language disorder with severe degree of impairment. The DDST-II and the ELMS confirmed the observation and clinical assessment and indicated serious delay in motor domains, self-care and receptive and expressive language. Given the presence of hypotonia, ataxia, delayed psychomotor and neonatal respiratory abnormalities it is essential to carry out examination imaging and genetic evaluation for the diagnosis of this condition, so complex, with unique therapeutic needs. This set of findings, along with the familial history and unique phenotypic characteristics reinforce the clinical genetic diagnosis JS. This genetic syndrome is rarely recognized and deserves to be presented to the recognition of the scientific community, targeting the correct diagnosis and treatment planning that minimizes the deleterious effects of this condition.
Subject(s)
Humans , Male , Child , Retina/abnormalities , Cerebellum/abnormalities , Developmental Disabilities/etiology , Eye Abnormalities/complications , Kidney Diseases, Cystic/complications , Language Disorders/etiology , Retina/pathology , Retina/diagnostic imaging , Abnormalities, Multiple/pathology , Abnormalities, Multiple/diagnostic imaging , Magnetic Resonance Imaging , Cerebellum/pathology , Cerebellum/diagnostic imaging , Eye Abnormalities/pathology , Eye Abnormalities/diagnostic imaging , Kidney Diseases, Cystic/pathology , Kidney Diseases, Cystic/diagnostic imagingABSTRACT
ABSTRACT Purpose: In 2015, a twenty-fold increase in the prevalence of microcephaly in Brazil was reported, and the Ministry of Health associated this abnormal prevalence with the maternal-fetal Zika virus (ZIKV) transmission. Methods: We assessed the ophthalmological findings of ten mothers and their infants that had been clinically diagnosed with ZIKV-related microcephaly and presented ocular abnormalities, born from May to December 2015. Results: Seven mothers (70.0%) referred symptoms during pregnancy (malaise, rash and arthralgia), of which six (85.7%) were in the first trimester. At the time of exam, no ophthalmological abnormalities were identified in the mothers and they did not report ocular symptoms during pregnancy. Serology was negative in all infants for Toxoplasmosis, Rubella, Cytomegalovirus, Syphilis and Human Immunodeficiency Viruses. Ocular findings included macular alterations (gross pigment mottling and/or chorioretinal atrophy) in fifteen eyes (75.0%), and optic nerve abnormalities (hypoplasia with double-ring sign, pallor, and/or increased cup-to-disk ratio) in nine eyes (45.0%). Conclusions: Patients presented normal anterior segment and important macular and optic nerve abnormalities. Further studies will assess the visual significance of these alterations.
RESUMO Introdução: No ano de 2015, foi identificado no Brasil um aumento da prevalência de microcefalia em vinte vezes. Esta malformação foi associada pelo Ministério da Saúde à transmissão vertical do Zika vírus (ZIKV). Método: Investigamos dez lactentes com diagnóstico clínico presumido de microcefalia relacionada à ZIKV, que apresentavam anormalidades oculares, nascidos entre maio e dezembro de 2015. Resultados: Sete mães (70,0%) relataram sintomas (mal-estar, rash e artralgia) durante a gestação, sendo seis (85,7%) no primeiro trimestre. No dia da avaliação nenhuma alteração ocular foi identificada nas mães e elas não relataram sintomas oculares durante a gestação. Sorologia foi negativa para toxoplasmose, rubéola, citomegalovírus, sífilis e vírus da imunodeficiência adquirida (HIV) em todos os lactentes. Os achados oculares incluíram alterações maculares (depósito pigmentar grosseiro e/ou atrofia coriorretiniana) em 15 olhos (75,0%) e alterações do nervo óptico (hipoplasia do disco com sinal do duplo anel, palidez e/ou aumento da escavação papilar) em nove olhos (45,0%). Conclusões: Os pacientes apresentaram segmento anterior normal e importantes e anormalidades maculares e do nervo óptico. Estudos futuros vão avaliar a importância destas alterações visuais.
Subject(s)
Adult , Female , Humans , Infant, Newborn , Male , Pregnancy , Eye Abnormalities/virology , Microcephaly/virology , Pregnancy Complications, Infectious/virology , Zika Virus Infection/complications , Brazil , Eye Abnormalities/pathology , Fundus Oculi , Macula Lutea/abnormalities , Ophthalmoscopy/methods , Optic Nerve/abnormalitiesABSTRACT
Hay-Wells syndrome or AEC (Ankyloblepharon, Ectodermal dysplasia and Cleft lip and palate syndrome) is a rare ectodermal disorder. The treatment is aimed to prevent clinical complications. We describe the case of a four-month old male patient with erosions on the scalp, trunk and arms, trachyonychia, deformity of the ears, micropenis, cleft palate, decreased eyebrow and eyelash hairs, in addition to antecedents of surgical correction of ankyloblepharon. The importance of the correct diagnosis is emphasized, besides the investigation of the associated diseases, treatment of complications and genetic counseling of the parents.
Subject(s)
Humans , Male , Infant , Ectodermal Dysplasia/pathology , Eye Abnormalities/pathology , Cleft Lip/pathology , Cleft Palate/pathology , Epidermolysis Bullosa/pathology , Eyelids/abnormalities , Scalp/pathology , Skin/pathology , Abnormalities, Multiple , Biopsy , Eyelids/pathologyABSTRACT
A case of foveal hypoplasia associated with ocular albinism with anatomic and functional changes by various techniques using spectral domain optical coherence tomography (SD-OCT), microperimeter and confocal scanning laser ophthalmoscope is described. This case highlights the importance of microperimeter in detecting the functional abnormalities of vision and SD-OCT in identifying the retinal laminar abnormalities in foveal hypoplasia.
Subject(s)
Adult , Eye Abnormalities/pathology , Fovea Centralis/abnormalities , Humans , Male , Tomography, Optical Coherence , Visual Field TestsABSTRACT
We report an unusual presentation of a case of Axenfeld-Rieger (A-R) syndrome. A 14-year-old male presented with gradual dimness of vision for 1 year and redness of left eye for 3 days. The patient had megalocornea with Haab's striae in the right eye and posterior embryotoxon in both the eyes. In the left eye, there was a white cord-like structure traversing the anterior chamber with adhesions to iris tissue along its course. On two antiglaucoma medications, his intraocular pressure (IOP) was 22 mm Hg in the right eye and 18 mm Hg in the left eye. Gonioscopy revealed a cord-like structure originating at the level of Schwalbe's line. He underwent right eye trabeculectomy with mitomycin-C. This case highlights a rare presentation of a strange cord-like structure, a rare presentation of A-R syndrome.
Subject(s)
Adolescent , Anterior Chamber/pathology , Anterior Eye Segment/abnormalities , Anterior Eye Segment/pathology , Anterior Eye Segment/physiopathology , Anterior Eye Segment/surgery , Cornea/abnormalities , Eye Abnormalities/pathology , Eye Abnormalities/physiopathology , Eye Abnormalities/surgery , Gonioscopy , Humans , Intraocular Pressure , Iris/pathology , Male , Mitomycin/therapeutic use , Tissue Adhesions/pathology , Trabeculectomy , Vision Disorders/etiologyABSTRACT
Se utilizó el acceso transcraneal subfrontal para el tratamiento de siete pacientes con diagnóstico de lesión periquiasmática (cinco adenomas de hipófisis, un glioma y un aneurisma). Se analizaron las indicaciones y complicaciones inherentes al procedimiento quirúrgico, así como el manejo del seno frontal en aquellos casos en que es abierto durante la craneotomía.