RESUMEN
AIM: This study reports the bilateral association of Peters' anomaly and congenital aniridia in monozygotic twins subsequently diagnosed with Wilms tumour (WAGR syndrome). METHODS: Two monozygotic female twins were referred at age 2 months with bilateral corneal opacity. A diagnosis of Peters' anomaly associated to aniridia was made in both eyes of both twins. Physical examination and ultrasonography were carried out at 12 months of age to explore the possibility of WAGR-related anomalies, specifically Wilms tumour. DNA were isolated and subjected to whole exome sequencing. RESULTS: Peters' anomaly associated to aniridia in both eyes as well as bilateral Wilms tumour in both children were diagnosed. Exome analyses showed a large heterozygous deletion encompassing 6 648 473 bp in chromosome 11p13, using Integrative Genomics Viewer and AnnotSV software. CONCLUSION: WAGR syndrome is a rare contiguous gene deletion syndrome with a greater risk of developing Wilms tumour associated with Peters' anomaly and congenital aniridia. However, co-occurrence of both anomalies was rarely reported in twins, and never in both eyes of monozygotic twins. Here, we report the bilateral association of Peters' anomaly and congenital aniridia in monozygotic twins with WAGR syndrome.
Asunto(s)
Aniridia , Opacidad de la Córnea , Gemelos Monocigóticos , Síndrome WAGR , Tumor de Wilms , Humanos , Femenino , Gemelos Monocigóticos/genética , Síndrome WAGR/genética , Aniridia/genética , Aniridia/complicaciones , Tumor de Wilms/genética , Tumor de Wilms/complicaciones , Lactante , Opacidad de la Córnea/genética , Segmento Anterior del Ojo/anomalías , Segmento Anterior del Ojo/diagnóstico por imagen , Anomalías del Ojo/genética , Anomalías del Ojo/diagnóstico por imagen , Anomalías del Ojo/complicaciones , Enfermedades en Gemelos/genética , Neoplasias Renales/genética , Neoplasias Renales/diagnóstico por imagen , Neoplasias Renales/complicacionesRESUMEN
PURPOSE: The purpose of this study was to describe the deep phenotype of congenital corneal opacities (CCO) in patients with 22q11.2 deletion syndrome (22q11.2 DS) and to identify putative regions or genes that could explain the CCO. METHODS: A retrospective chart review was conducted to identify patients with 22q11.2 DS seen in the ophthalmology clinic of a tertiary referral children's hospital. Thirty patients were identified, with molecular confirmation. Twenty-six did not show structural anterior segment anomalies aside from posterior embryotoxon (n = 4), whereas 4 had bilateral CCO, of which 3 had preoperative images. We reviewed medical, operative, and pathology reports; anterior segment optical coherence tomography; high-frequency ultrasound; histopathologic slides; and genetic testing. To identify putative genes responsible for CCO, chromosomal breakpoints in patients with and without CCO were compared. RESULTS: In the 3 patients with preoperative imaging and CCO, a pattern of paracentral corneal opacification with central clearing accompanied by iridocorneal or keratolenticular adhesions was observed. Anterior segment optical coherence tomography and histopathologic images showed central stromal thinning with a residual structure consistent with Descemet membrane. One patient presented at birth with unilateral corneal perforation, suggestive of likely stromal thinning. A comparison of the breakpoints across all cases failed to reveal unique regions or genes in patients with CCO. CONCLUSIONS: 22q11.2 DS can rarely be associated with CCO. We describe a consistent pattern of central clearing related to posterior stromal thinning, with or without ICA/KLA. Possible candidate genes for corneal opacification in 22q11.2 DS remain elusive.
Asunto(s)
Opacidad de la Córnea , Perforación Corneal , Síndrome de DiGeorge , Anomalías del Ojo , Humanos , Opacidad de la Córnea/diagnóstico , Opacidad de la Córnea/genética , Opacidad de la Córnea/congénito , Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/genética , Anomalías del Ojo/diagnóstico por imagen , Anomalías del Ojo/genética , Estudios RetrospectivosRESUMEN
Delleman-Oorthuys or oculocerebrocutaneous syndrome (OCCS) is an extremely rare condition which relies on three pillars of manifestations: ophthalmological, neurological, and dermatological. It was first described by Delleman and Oorthuys in 1981, and since then, very few other cases have been reported. We report the case of a 13-month-old boy, referred to an ophthalmological tertiary service for investigation of a microglobe with a cystic retrobulbar mass on translucency test. MRI revealed a left microphthalmia, with extensive retrobulbar cystic lesions occupying the remaining orbit and protruding anteriorly the microglobe. Cerebral findings included polymicrogyria, subependymal nodular heterotopia at the level of the left occipital horn of the lateral ventricle, and an importantly enlarged mesencephalic tectum observed in association with an absent cerebellar vermis. The ensemble of malformations met the criteria for definite OCCS. Being a tremendously rare syndrome, OCCS will always represent a diagnostic challenge. However, its emblematic cutaneous manifestations might be an important part of the road map leading to its correct interpretation. Thus, when absent, diagnosis can be harder than usual, and, on these cases, neurologists, ophthalmologists, and radiologists play a crucial role.
Asunto(s)
Anomalías Múltiples , Quistes del Sistema Nervioso Central , Anomalías del Ojo , Anomalías Cutáneas , Quistes del Sistema Nervioso Central/patología , Anomalías del Ojo/complicaciones , Anomalías del Ojo/diagnóstico por imagen , Dedos/anomalías , Humanos , Lactante , Masculino , Anomalías Cutáneas/complicaciones , Anomalías Cutáneas/diagnóstico por imagenRESUMEN
OBJECTIVE: To describe the main prenatal sonographic and magnetic resonance imaging (MRI) features leading to the diagnosis of Posterior fossa malformations, Hemangiomas of the face, Arterial anomalies, Coarctation of the aorta and cardiac defects, and Eye abnormalities (PHACE) syndrome. The literature was also reviewed in order to determine the main neuroimaging features of fetuses with this condition. RESULTS: The index case was referred at 24 weeks' gestation with the probable diagnosis of Dandy-Walker malformation. Prenatal sonographic examination revealed hypoplasia of the left cerebellar hemisphere, hypoplasia of the cerebellar vermis, and enlarged cisterna magna (the "tilted telephone receiver sign"). Fetal MRI at 30 weeks confirmed the findings and also revealed an ipsilateral retrocerebellar cyst communicating with the asymmetrical dilated fourth ventricle, upward displacement of the left cerebellar hemisphere, and elevation of the ipsilateral tentorium. Postnatally, a large left facial segmental hemangioma as well as ipsilateral vascular intracranial malformations were identified, confirming the diagnosis of PHACE syndrome. A review of the literature revealed 11 reports describing 22 fetuses with prenatal imaging studies, including ours, confirming the high prevalence of specific posterior fossa abnormalities associated with PHACE syndrome. CONCLUSION: Our case and those reported in the literature support the observation that PHACE syndrome presents with characteristic features affecting the posterior fossa, which can be identified through prenatal sonography and fetal MRI.
Asunto(s)
Coartación Aórtica , Anomalías del Ojo , Hemangioma , Síndromes Neurocutáneos , Coartación Aórtica/diagnóstico por imagen , Anomalías del Ojo/complicaciones , Anomalías del Ojo/diagnóstico por imagen , Femenino , Humanos , Imagen por Resonancia Magnética/métodos , Síndromes Neurocutáneos/complicaciones , Síndromes Neurocutáneos/diagnóstico por imagen , Neuroimagen/métodos , EmbarazoRESUMEN
ABSTRACT Myelinated retinal nerve fibers are rare congenital anomalies that appear as gray-white patches. They may be present in a syndrome characterized by ipsilateral myelinated retinal nerve fibers, myopia and amblyopia. The author reported an ellipsoid zone defect on spectral domain optical coherence tomography in a case of Straatsma syndrome without macular extension.
RESUMO Fibras nervosas retinais mielinizadas são anomalias congênitas raras que aparecem como manchas branco-acinzentadas. Eles podem se apresentar em uma síndrome caracterizada por fibras nervosas retinais mielinizadas ipsilaterais, miopia e ambliopia. O autor relatou um defeito na zona elipsoide na tomografia de coerência óptica de domínio espectral em um caso de síndrome de Straatsma sem extensão macular.
Asunto(s)
Humanos , Femenino , Adolescente , Enfermedades de la Retina/patología , Enfermedades de la Retina/diagnóstico por imagen , Fibras Nerviosas/patología , Fibras Nerviosas Mielínicas/patología , Disco Óptico , Ambliopía , Anomalías del Ojo/diagnóstico por imagen , Tomografía de Coherencia Óptica , Fondo de Ojo , Vaina de Mielina , MiopíaRESUMEN
Infantile hemangioma can be linked to other organ malformations. In 1996, PHACE syndrome was first defined as the association of large and segmental infantile hemangioma, usually on the face, head, or cervical region, with malformations of the posterior fossa of the brain, arterial anomalies of the central nervous system, coarctation of the aorta, cardiac defects, and ocular abnormalities. Over 300 cases of PHACE syndrome have been reported, and it is cconsidered one of the most common neurocutaneous vascular disorders in childhood. Knowledge of the features and locations of lesions that imply a greater risk of systemic involvement is crucial for the diagnosis and proper management of PHACE syndrome patients. This review highlights the diagnostic criteria for PHACE syndrome, the imaging workup for extracutaneous involvement, the treatment of infantile hemangioma, and the importance of a multidisciplinary approach in the management of these patients.
Asunto(s)
Coartación Aórtica/diagnóstico , Anomalías del Ojo/diagnóstico , Neoplasias Faciales/diagnóstico , Hemangioma/diagnóstico , Síndromes Neurocutáneos/diagnóstico , Coartación Aórtica/complicaciones , Coartación Aórtica/diagnóstico por imagen , Encéfalo/anomalías , Encéfalo/diagnóstico por imagen , Anomalías del Ojo/complicaciones , Anomalías del Ojo/diagnóstico por imagen , Cara/diagnóstico por imagen , Neoplasias Faciales/tratamiento farmacológico , Hemangioma/tratamiento farmacológico , Humanos , Lactante , Imagen por Resonancia Magnética , Síndromes Neurocutáneos/complicaciones , Síndromes Neurocutáneos/diagnóstico por imagen , Propranolol/uso terapéutico , Accidente Cerebrovascular/etiologíaRESUMEN
Abstract: Infantile hemangioma can be linked to other organ malformations. In 1996, PHACE syndrome was first defined as the association of large and segmental infantile hemangioma, usually on the face, head, or cervical region, with malformations of the posterior fossa of the brain, arterial anomalies of the central nervous system, coarctation of the aorta, cardiac defects, and ocular abnormalities. Over 300 cases of PHACE syndrome have been reported, and it is cconsidered one of the most common neurocutaneous vascular disorders in childhood. Knowledge of the features and locations of lesions that imply a greater risk of systemic involvement is crucial for the diagnosis and proper management of PHACE syndrome patients. This review highlights the diagnostic criteria for PHACE syndrome, the imaging workup for extracutaneous involvement, the treatment of infantile hemangioma, and the importance of a multidisciplinary approach in the management of these patients.
Asunto(s)
Humanos , Coartación Aórtica/diagnóstico , Neoplasias Faciales/diagnóstico , Anomalías del Ojo/diagnóstico , Síndromes Neurocutáneos/diagnóstico , Hemangioma/diagnóstico , Coartación Aórtica/complicaciones , Coartación Aórtica/diagnóstico por imagen , Propranolol/uso terapéutico , Encéfalo/anomalías , Encéfalo/diagnóstico por imagen , Neoplasias Faciales/tratamiento farmacológico , Imagen por Resonancia Magnética , Anomalías del Ojo/complicaciones , Anomalías del Ojo/diagnóstico por imagen , Accidente Cerebrovascular/etiología , Síndromes Neurocutáneos/complicaciones , Síndromes Neurocutáneos/diagnóstico por imagen , Cara/diagnóstico por imagen , Hemangioma/tratamiento farmacológico , LactanteRESUMEN
Eyes from brachycephalic dogs were studied by acoustic radiation force impulse (ARFI) elastography to establish quantitative and qualitative reference values related to the shape and rigidity of some ocular structures. Eighty-four eyes from 42 adult brachycephalic dogs were included in this study. Animals were subjected to physical, laboratory, and ophthalmic examinations. Following confirmation of good health, the dogs were subjected to ultrasonography and ARFI elastography, emphasizing the optic nerve, ciliary body, and lens. On qualitative elastography, homogeneous characteristics were observed on the ciliary body and optic nerve. Aqueous and vitreous humors were visualized as mosaic-like images. Quantitative elastography showed the mean optic nerve shear wave velocity (SWV) was 1.01±0.27m/s, temporal ciliary body was 0.91±0.24m/s, and nasal ciliary body was 0.91±0.3m/s. The SWV of the lens values were out of range, this value was not detectable by this software. Elastography has proved to be a non-invasive procedure and feasible in dogs. The establishmentof the parameters of degree of rigidity of ocular structures will serve as a baseline for animals with eye disorders. Results may be extrapolated to primary research on the applicability of ARFI in the evaluation of ocular bulb in humans.(AU)
Estruturas oculares de cães braquicéfalos foram estudadas por elastografia acoustic radiation force impulse (ARFI) para estabelecer valores quantitativos e qualitativos de referência relacionados com a forma e a rigidez de algumas estruturas oculares. Foram avaliados 84 olhos de 42 cães braquicéfalos neste estudo. Os animais foram submetidos aos exames físico, laboratorial e aos exames oftalmológicos. Após a confirmação da sanidade dos pacientes, os cães foram submetidos à ultrassonografia e à elastografia ARFI, enfatizando-se o nervo óptico, o corpo ciliar e a lente. Para elastografia qualitativa, foram observadas características homogêneas no corpo ciliar e no nervo óptico. Os humores aquoso e vítreo foram visibilizados como imagens tipo mosaico. A elastografia quantitativa demonstrou velocidades de cisalhamento para nervo óptico de 1,01±0,27m/s, para corpo ciliar temporal de 0,91±0,24m/s e para corpo ciliar nasal de 0,91±0,3m/s. Valores dessas velocidades para lentes apresentaram-se fora do intervalo: X.XXm/s. A elastografia provou ser um procedimento não invasivo e viável para cães. Estabelecidos os parâmetros do grau de rigidez das estruturas oculares, futuramente tais dados servirão como padrão para avaliação de animais com os distúrbios oculares. Os resultados podem ser extrapolados para a pesquisa primária sobre a aplicabilidade da ARFI na avaliação do bulbo ocular em seres humanos.(AU)
Asunto(s)
Animales , Perros , Diagnóstico por Imagen de Elasticidad , Diagnóstico por Imagen de Elasticidad/veterinaria , Anomalías del Ojo/diagnóstico por imagen , Perros/anomalíasRESUMEN
Eyes from brachycephalic dogs were studied by acoustic radiation force impulse (ARFI) elastography to establish quantitative and qualitative reference values related to the shape and rigidity of some ocular structures. Eighty-four eyes from 42 adult brachycephalic dogs were included in this study. Animals were subjected to physical, laboratory, and ophthalmic examinations. Following confirmation of good health, the dogs were subjected to ultrasonography and ARFI elastography, emphasizing the optic nerve, ciliary body, and lens. On qualitative elastography, homogeneous characteristics were observed on the ciliary body and optic nerve. Aqueous and vitreous humors were visualized as mosaic-like images. Quantitative elastography showed the mean optic nerve shear wave velocity (SWV) was 1.01±0.27m/s, temporal ciliary body was 0.91±0.24m/s, and nasal ciliary body was 0.91±0.3m/s. The SWV of the lens values were out of range, this value was not detectable by this software. Elastography has proved to be a non-invasive procedure and feasible in dogs. The establishmentof the parameters of degree of rigidity of ocular structures will serve as a baseline for animals with eye disorders. Results may be extrapolated to primary research on the applicability of ARFI in the evaluation of ocular bulb in humans.(AU)
Estruturas oculares de cães braquicéfalos foram estudadas por elastografia acoustic radiation force impulse (ARFI) para estabelecer valores quantitativos e qualitativos de referência relacionados com a forma e a rigidez de algumas estruturas oculares. Foram avaliados 84 olhos de 42 cães braquicéfalos neste estudo. Os animais foram submetidos aos exames físico, laboratorial e aos exames oftalmológicos. Após a confirmação da sanidade dos pacientes, os cães foram submetidos à ultrassonografia e à elastografia ARFI, enfatizando-se o nervo óptico, o corpo ciliar e a lente. Para elastografia qualitativa, foram observadas características homogêneas no corpo ciliar e no nervo óptico. Os humores aquoso e vítreo foram visibilizados como imagens tipo mosaico. A elastografia quantitativa demonstrou velocidades de cisalhamento para nervo óptico de 1,01±0,27m/s, para corpo ciliar temporal de 0,91±0,24m/s e para corpo ciliar nasal de 0,91±0,3m/s. Valores dessas velocidades para lentes apresentaram-se fora do intervalo: X.XXm/s. A elastografia provou ser um procedimento não invasivo e viável para cães. Estabelecidos os parâmetros do grau de rigidez das estruturas oculares, futuramente tais dados servirão como padrão para avaliação de animais com os distúrbios oculares. Os resultados podem ser extrapolados para a pesquisa primária sobre a aplicabilidade da ARFI na avaliação do bulbo ocular em seres humanos.(AU)
Asunto(s)
Animales , Perros , Diagnóstico por Imagen de Elasticidad/estadística & datos numéricos , Diagnóstico por Imagen de Elasticidad/veterinaria , Anomalías del Ojo/diagnóstico por imagen , Perros/anomalíasAsunto(s)
Anomalías Múltiples/diagnóstico por imagen , Cerebelo/anomalías , Anomalías del Ojo/diagnóstico por imagen , Enfermedades Renales Quísticas/diagnóstico por imagen , Imagen por Resonancia Magnética , Retina/anomalías , Cerebelo/diagnóstico por imagen , Niño , Diagnóstico Diferencial , Imagen de Difusión Tensora , Femenino , Humanos , Lactante , Masculino , Retina/diagnóstico por imagenRESUMEN
We present a female infant with a right-sided facial and neck haemangioma, from a remote, resource-poor community in rural Guatemala. She received first-line treatment, propranolol, with marked reduction in tumour size and erythema. Treatment was stopped after 35 weeks due to recurrent diarrhoea and sustained weight loss. Propranolol can be used to safely treat infants with haemangiomas in remote, rural communities if there is adequate follow-up, education and communication. Periocular haemangiomas should be treated promptly to avoid visual impairment. Infants with large facial haemangiomas should be screened for Posterior fossa anomalies, Hemangioma, Arterial anomalies, Cardiac anomalies, and Eye anomalies (PHACE) syndrome, and specialists should be involved. The case also highlights the difficulty of providing treatment for a complex illness when basic health needs, such as food security and water sanitation, are limited.
Asunto(s)
Cara/irrigación sanguínea , Hemangioma/tratamiento farmacológico , Propranolol/uso terapéutico , Vasodilatadores/uso terapéutico , Coartación Aórtica/diagnóstico por imagen , Diagnóstico Diferencial , Anomalías del Ojo/diagnóstico por imagen , Cara/patología , Femenino , Guatemala/epidemiología , Hemangioma/patología , Humanos , Lactante , Angiografía por Resonancia Magnética/métodos , Imagen por Resonancia Magnética/métodos , Síndromes Neurocutáneos/diagnóstico por imagen , Propranolol/administración & dosificación , Población Rural , Resultado del Tratamiento , Vasodilatadores/administración & dosificaciónAsunto(s)
Coloboma/diagnóstico por imagen , Coloboma/fisiopatología , Iris/anomalías , Niño , Progresión de la Enfermedad , Anomalías del Ojo/diagnóstico por imagen , Anomalías del Ojo/fisiopatología , Grecia , Humanos , Enfermedades del Iris/congénito , Enfermedades del Iris/diagnóstico por imagen , Masculino , Monitoreo Fisiológico/métodos , Oftalmoscopía/métodos , Enfermedades Raras , Medición de Riesgo , Índice de Severidad de la EnfermedadRESUMEN
PURPOSE: To describe the involvement of the lacrimal gland (LG) in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). DESIGN: Observational, cross-sectional study. PARTICIPANTS: Twenty-one patients with BPES (10 female, 11 male) aged on average 15 years (range, 2-39 years), from 3 Brazilian medical centers and 1 Portuguese medical center. METHODS: Patients had their ocular surface evaluated with slit-lamp biomicroscopy, and tear production quantified with the Schirmer test I. The LG volumes were measured on computed tomography (CT) scans in the BPES sample and in a group of age-matched subjects imaged for nonorbital diseases. Sixteen patients were screened for mutations in the FOXL2 gene. MAIN OUTCOME MEASURES: Lacrimal meniscus height, Schirmer test I, presence of superficial punctate keratopathy (SPK), LG volume, and molecular analysis of the FOXL2 gene. RESULTS: Absence of LG was detected bilaterally in 9 patients (42.8%) and unilaterally in 2 patients (9.5%). When considering only patients with measurable LG, the median volume was 0.22 cm3 in the right eye (range, 0.06-0.36 cm3) and 0.24 cm3 in the left eye (range, 0.08-0.34 cm3). These values were significantly lower than those for the age-matched controls (median = 0.54 right eye and 0.53 left eye; P < 0.05). There was a significant association between deficiency of tear production and LG volume reduction and agenesis. Molecular analysis of the FOXL2 gene revealed the presence of 8 distinct mutations, 4 of them novel ones. A significant reduction of LG size or agenesis was associated with mutations affecting protein size (due to underlying changes in the stop codon location) or the DNA-binding forkhead domain (Fisher exact test, P = 0.021). In 3 probands, the underlying genetic defect was not found. CONCLUSIONS: This is the first study reporting LG volumes in BPES, describing a significant number of patients with LG agenesis. The association between alacrima and BPES is not incidental, and a thorough evaluation of tear production is recommended especially if ptosis surgery is planned.
Asunto(s)
Blefarofimosis/diagnóstico por imagen , Anomalías del Ojo/diagnóstico por imagen , Factores de Transcripción Forkhead/genética , Aparato Lagrimal/anomalías , Anomalías Cutáneas/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Anomalías Urogenitales/diagnóstico por imagen , Adolescente , Adulto , Blefarofimosis/genética , Niño , Preescolar , Estudios Transversales , Análisis Mutacional de ADN , Exones/genética , Anomalías del Ojo/genética , Femenino , Proteína Forkhead Box L2 , Amplificación de Genes , Estudios de Asociación Genética , Humanos , Masculino , Anomalías Cutáneas/genética , Microscopía con Lámpara de Hendidura , Lágrimas/fisiología , Anomalías Urogenitales/genéticaRESUMEN
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.
Asunto(s)
Cerebelo/anomalías , Discapacidades del Desarrollo/etiología , Anomalías del Ojo/complicaciones , Enfermedades Renales Quísticas/complicaciones , Trastornos del Lenguaje/etiología , Retina/anomalías , Anomalías Múltiples/diagnóstico por imagen , Anomalías Múltiples/patología , Cerebelo/diagnóstico por imagen , Cerebelo/patología , Niño , Anomalías del Ojo/diagnóstico por imagen , Anomalías del Ojo/patología , Humanos , Enfermedades Renales Quísticas/diagnóstico por imagen , Enfermedades Renales Quísticas/patología , Imagen por Resonancia Magnética , Masculino , Retina/diagnóstico por imagen , Retina/patologíaRESUMEN
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.
Asunto(s)
Humanos , Masculino , Niño , Retina/anomalías , Cerebelo/anomalías , Discapacidades del Desarrollo/etiología , Anomalías del Ojo/complicaciones , Enfermedades Renales Quísticas/complicaciones , Trastornos del Lenguaje/etiología , Retina/patología , Retina/diagnóstico por imagen , Anomalías Múltiples/patología , Anomalías Múltiples/diagnóstico por imagen , Imagen por Resonancia Magnética , Cerebelo/patología , Cerebelo/diagnóstico por imagen , Anomalías del Ojo/patología , Anomalías del Ojo/diagnóstico por imagen , Enfermedades Renales Quísticas/patología , Enfermedades Renales Quísticas/diagnóstico por imagenRESUMEN
Restrictive strabismus resulting from the presence of an accessory extraocular muscle has rarely been reported in the literature. Most articles written on this topic are isolated case reports. The purpose of this paper is to describe a series of 7 similar patients presenting with atypical restrictive strabismus associated with enophthalmos in the affected eye, which was found to be caused by an accessory extraocular muscle attached to the posterior globe near the optic nerve. The medical records of 7 patients who shared these clinical characteristics were retrospectively analyzed. Orbital imaging was obtained in the 7 cases, which were compared. Three of the patients were females and four were males. The left eye was affected in all 4 males and the right eye was affected in the 3 females. The 7 patients presented with the following clinical characteristics: enophthalmos, restriction to eye movements in most fields of gaze, and presence of an anomalous orbital structure that was interpreted on magnetic resonance imaging (MRI) to be an accessory extraocular muscle inserting onto the posterior surface of the globe in the affected eye. The fellow eye was normal in all cases. Five of the 7 patients underwent surgical correction with partial improvement in only one patient. The presence of an accessory extraocular muscle should be included in the differential diagnosis of patients with atypical restrictive strabismus. Orbital computed tomography or MRI are essential for correct diagnosis in these cases.
Asunto(s)
Anomalías del Ojo/complicaciones , Músculos Oculomotores/anomalías , Estrabismo/etiología , Adolescente , Niño , Preescolar , Diagnóstico Diferencial , Enoftalmia/diagnóstico , Enoftalmia/etiología , Anomalías del Ojo/diagnóstico por imagen , Movimientos Oculares/fisiología , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Músculos Oculomotores/diagnóstico por imagen , Estudios Retrospectivos , Estrabismo/diagnóstico , Tomografía Computarizada por Rayos X , Adulto JovenRESUMEN
INTRODUCTION: A cataract is defined as an opacity of any portion of the lens, regardless of visual acuity. In some advanced cases of cataracts, in which good fundus visualization is not possible, an ultrasound examination provides better assessment of the posterior segment of the globe. OBJECTIVES: This study aims to evaluate the ultrasonographic records of patients with advanced cataracts who were examined during cataract campaigns. METHODS: The ultrasonographic findings obtained from 215 patients examined in cataract campaigns conducted by the Hospital das Clínicas Department of Ophthalmology of the Faculdade de Medicina da Universidade de São Paulo between the years of 2005 and 2007 were evaluated, and the utility of this exam in changing the treatment procedures was studied. RESULTS: A total of 289 eyes from 215 patients were examined. Of the eyes examined, 77.5% presented with findings in the vitreous cavity and the posterior pole. A posterior vitreous detachment with no other complications was observed in 47.4% of the eyes. The remaining 30.1% presented with eye diseases that could result in a reduced visual function after surgery. The most frequent eye diseases observed were diffuse vitreous opacity (12.1% of the eyes) and detachment of the retina (9.3% of the eyes). DISCUSSION: In many cases, the ultrasonographic evaluation of the posterior segment revealed significant anomalies that changed the original treatment plan or contra-indicated surgery. At the very least, the evaluation was useful for patient counseling. CONCLUSION: The ultrasonographic examination revealed and differentiated between eyes with cataracts and eyes with ocular abnormalities other than cataracts as the cause of poor vision, thereby indicating the importance of its use during ocular evaluation.
Asunto(s)
Catarata/diagnóstico por imagen , Anomalías del Ojo/diagnóstico por imagen , Promoción de la Salud , Adulto , Anciano , Anciano de 80 o más Años , Brasil , Catarata/terapia , Ojo/diagnóstico por imagen , Femenino , Humanos , Masculino , Persona de Mediana Edad , Desprendimiento de Retina/diagnóstico por imagen , Estudios Retrospectivos , Ultrasonografía , Agudeza Visual/fisiología , Cuerpo Vítreo , Desprendimiento del Vítreo/diagnóstico por imagen , Adulto JovenRESUMEN
Fraser syndrome is a systemic condition characterized by cryptophthalmos, syndactyly and abnormal genitalia, which may be associated with urinary tract, ear, nose, larynx and skeletal abnormalities. Cryptophthalmos can be an isolated finding (that has been reported as an autosomal dominant trait) or associated with other congenital anomalies (reported as an autosomal recessive disorder). RMSA, female, 3 m.o., evaluated in the general clinic of the Instituto Brasileiro de Oftalmologia e Prevenção à Cegueira. Child of consanguineous parents. The same finding was observed in an uncle and one of her brothers. Her physical examination showed total unilateral cryptophthalmos (right side), depressed nasal bridge, low set ears, atresia of the external auditory canal, enlarged clitoris, prominent labia majora and syndactyly of the fingers and toes. Ultrasonography of the abdomen showed renal agenesis (left side). Ocular ultrasonography showed a reduced anterior-posterior ocular diameter, anterior segment disorganization, absence of the lens and total retinal detachment in the right eye. The pathogenesis of cryptophthalmia has not as yet been determined, but consanguinity has been reported by many authors as a very important factor. Doctors should be attentive to the clinical findings and the correct diagnosis in order to offer these patients a thorough follow-up and realistic genetic counseling to their parents.
Asunto(s)
Anomalías Múltiples/diagnóstico , Anomalías del Ojo/diagnóstico por imagen , Párpados/anomalías , Riñón/anomalías , Nariz/anomalías , Sindactilia/diagnóstico , Anomalías Múltiples/genética , Consanguinidad , Anomalías del Ojo/genética , Femenino , Predisposición Genética a la Enfermedad , Humanos , Lactante , Laringe/anomalías , Síndrome , UltrasonografíaRESUMEN
The authors report a case of congenital optic disc pit with serous macular detachment successfully treated, with argon laser photocoagulation in the temporal border of the pit, followed by intravitreous injection of C3F8 (100%) 0.3 ml. Patient was followed up for 12 months. Retinal reattachment was associated with improvement in visual acuity, as well as return of the fovea to its normal configuration shown by optical coherence tomography.
Asunto(s)
Anomalías del Ojo/complicaciones , Fluorocarburos/administración & dosificación , Coagulación con Láser/métodos , Disco Óptico/anomalías , Desprendimiento de Retina/cirugía , Adulto , Anomalías del Ojo/diagnóstico por imagen , Femenino , Estudios de Seguimiento , Humanos , Disco Óptico/diagnóstico por imagen , Radiografía , Desprendimiento de Retina/diagnóstico por imagen , Desprendimiento de Retina/etiología , Tomografía de Coherencia Óptica , Resultado del Tratamiento , Agudeza VisualRESUMEN
PURPOSE: Ocular anomalies have been associated with numerous chromosomal abnormalities. This report describes partial trisomy 3q in a two-month-old girl with dysmorphic features of the Dup3q phenotype and severe eye and cerebellar malformations. METHODS: Clinical examination and chromosomal analysis were conducted. RESULTS: The karyotype of the propositus was 46,XX, ins(3)(pter --> p25::q27 --> q21::p25 --> qter). She had an abnormal head shape, low-set malformed ears, coarse facies, short webbed neck, abnormal foot position, polycystic kidney, and spina bifida. There was also bilateral microphthalmia that was more severe on the right side, microcornea, and corneal opacity. She had posterior fossa abnormalities, including cerebellar vermis hypoplasia suggestive of a Dandy-Walker (DW) malformation. CONCLUSIONS: This girl with an intrachromosomal duplication of distal 3q and typical phenotype belongs to the severe end of the spectrum for such cases. The ocular manifestations of the 3q duplication syndrome provide additional evidence of the involvement of developmental eye genes in this chromosomal segment.