RESUMO
INTRODUCTION: Carbohydrate-deficient-glycoprotein syndromes are new described multisystemic diseases. We report here the case of a young boy who presented with CDG syndrome Ia associated with typical ocular disorders. CASE REPORT: This 18-month-old boy presented facial dysmorphism, ataxia, hypotonia and cerebellar hypoplasia. Ocular examination showed esotropia with nystagmoid movements and at fundoscopy signs of retinitis pigmentosa with foveal hypoplasia. Photopic and scotopic electroretinograms were altered. DISCUSSION: CDG syndromes are metabolic disorders which affect N-glycoprotein synthesis. Clinical manifestations are various: hypotonia, cerebellar hypoplasia, developmental delay, pericardial effusion, etc. Four variants are described; each of them is associated with particular clinical disorders and prognosis. Ocular features are frequently associated (esotropia, retinitis pigmentosa) and especially in CDG syndrome Ia. CONCLUSION: Esotropia associated with fundus alterations appearing in a multisystemic disorder requires explorations to search for CDG syndrome.
Assuntos
Defeitos Congênitos da Glicosilação/diagnóstico , Defeitos Congênitos da Glicosilação/fisiopatologia , Oftalmopatias/etiologia , Glicoproteínas/genética , Glicoproteínas/metabolismo , Glicosilação , Humanos , Lactente , MasculinoRESUMO
A case of severe ocular burns in an amateur speleologist is reported. The explosion of his acetylene lamp caused the projection of calcium carbide particles, which induced burning of the cornea and conjunctiva in both eyes. He slowly recovered in several months. The pathophysiology of the burns, linked to the in situ production of lime, and their management are discussed.
Assuntos
Acetileno/análogos & derivados , Acetileno/efeitos adversos , Traumatismos por Explosões , Queimaduras Químicas , Compostos de Cálcio , Queimaduras Oculares/induzido quimicamente , Passatempos , Óxidos , Corticosteroides/uso terapêutico , Adulto , Álcalis , Analgésicos/uso terapêutico , Antibacterianos/uso terapêutico , Queimaduras Químicas/tratamento farmacológico , Túnica Conjuntiva/lesões , Lesões da Córnea , Queimaduras Oculares/tratamento farmacológico , Seguimentos , Humanos , Masculino , Midriáticos/uso terapêutico , Fatores de Tempo , Acuidade VisualAssuntos
Migração de Corpo Estranho/etiologia , Reação a Corpo Estranho/etiologia , Recurvamento da Esclera/efeitos adversos , Elastômeros de Silicone , Diplopia/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos da Motilidade Ocular/etiologia , Descolamento Retiniano/cirurgia , Acuidade VisualAssuntos
Úlcera da Córnea , Corticosteroides/uso terapêutico , Adulto , Idoso , Túnica Conjuntiva/cirurgia , Transplante de Córnea , Úlcera da Córnea/diagnóstico , Úlcera da Córnea/terapia , Diagnóstico Diferencial , Feminino , Angiofluoresceinografia , Humanos , Imunossupressores/uso terapêutico , Masculino , Microscopia , Prognóstico , Síndrome , Acuidade VisualRESUMO
Mucosa-associated lymphoid tissue lymphoma can occur in various localizations. We describe the case of a patient presenting bilateral MALT lymphoma involving a lacrimal gland and a lacrimal duct. Biopsy specimens are required for histologic diagnosis. Such low-grade lymphomas are generally treated medically with radiotherapy or chemotherapy. Prognosis is generally favorable. A complete work-up is required to determine extension. These patients should be followed regularly.
