RESUMO
CLINICAL CASE: A 38-year-old man with fungal Alternaria keratitis was referred from another hospital 25 days after post-traumatic penetrating keratoplastia surgery on his right eye. We commenced treatment with topical voriconazole and the condition resolved. DISCUSSION: Fungal Alternaria keratitis is rare, and treatment is difficult because the clinical response does not correlate well with the antibiotic in vitro sensitivity of the fungus. Clinical cases need to be diagnosed and treated quickly if visual loss is to be avoided. The combination of topical and systemic voriconazole has been shown to be an effective treatment for this condition
Assuntos
Alternaria , Antifúngicos/administração & dosagem , Infecções Oculares Fúngicas/tratamento farmacológico , Ceratite/tratamento farmacológico , Micoses , Pirimidinas/administração & dosagem , Triazóis/administração & dosagem , Administração Oral , Adulto , Infecções Oculares Fúngicas/microbiologia , Traumatismos Oculares/cirurgia , Humanos , Ceratite/microbiologia , Ceratoplastia Penetrante , Masculino , Micoses/tratamento farmacológico , Soluções Oftálmicas , Fatores de Tempo , Resultado do Tratamento , VoriconazolRESUMO
INTRODUCTION: Alström-Hallgren syndrome is an inherited condition in which the transmission of a double dose of a mutated gene leads to specific clinical findings. To the present time there has been only one gene detected which leads to this syndrome, the ALMS1 gene. Mutation of this gene leads to progressive blindness due to photoreceptor dystrophy, progressive sensorineural hearing loss, insulin resistant diabetes, morbid obesity and cardiologic abnormalities. CLINICAL CASE: We present the case of a four-year-old male who, after a cardiopulmonary shutdown in the fourth month of life, was diagnosed with a dilated cardiomyopathy. Nystagmus and photophobia followed, and, after ophthalmologic exploration and an electroretinogram, the results were consistent with Alström syndrome. The appropriate genetic studies were then performed. DISCUSSION: The diagnosis in this case was considered basically because of its uncommon clinical features, and the fact a multidisciplinary approach was used in its evaluation. We were only able to confirm the diagnosis by molecular biology techniques, with this resulting in the correct diagnosis in 25-40% of cases. Treatment is symptomatic and the prognosis extremely variable.
Assuntos
Cegueira/diagnóstico , Surdez/diagnóstico , Cardiopatias/diagnóstico , Resistência à Insulina , Obesidade/diagnóstico , Pré-Escolar , Humanos , Masculino , SíndromeRESUMO
CLINICAL CASE: We report the case of an 81-day-old female infant who was brought to the Emergency Department because of a seizure. At 20 weeks of gestational age she was diagnosed to have agenesis of the corpus callosum, with this being confirmed later by magnetic resonance imaging. Ophthalmological examination of the fundus showed peripapillar chorioretinal lesions (lacunar chorioretinopathy) in both eyes. DISCUSSION: Chorioretinal lacunar and retinal pigment epithelial abnormalities are the basis for the diagnosis of this syndrome.
Assuntos
Agenesia do Corpo Caloso , Coriorretinite/diagnóstico , Espasmos Infantis/diagnóstico , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , SíndromeRESUMO
IIntroducción: El Síndrome de Alström es una enfermedad autosómica recesiva. Se conoce un gen (ALMS1) asociado al síndrome, caracterizado por ceguera causada por distrofia de conos y bastones, sordera sensorial, resistencia a la insulina, obesidad, y cardiopatías. Caso clínico: Niño de cuatro años que tras una parada cardiorrespiratoria es diagnosticado de cardiomiopatía dilatada. Comienza con nistagmus y fotofobia. Se le realiza exploración oftalmológica y ERG, siendo los resultados compatibles con un Síndrome de Alström. Discusión: El diagnóstico en estos casos es clínico. El diagnóstico de certeza con técnicas moleculares es posible en un 25-40% de casos. El tratamiento es sintomático
Introduction: Alstrom-Hallgren syndrome is an inherited condition in which the transmission of a double dose of a mutated gene leads to specific clinical findings. To the present time there has been only one gene detected which leads to this syndrome, the ALMS1 gene. Mutation of this gene leads to progressive blindness due to photoreceptor dystrophy, progressive sensorineural hearing loss, insulin resistant diabetes, morbid obesity and cardiologic abnormalities. Clinical Case: We present the case of a four-yearold male who, after a cardiopulmonary shutdown in the fourth month of life, was diagnosed with a dilated cardiomyopathy. Nystagmus and photophobia followed, and, after ophthalmologic exploration and an electroretinogram, the results were consistent with Alström syndrome. The appropriate genetic studies were then performed. Discussion: The diagnosis in this case was considered basically because of its uncommon clinical features, and the fact a multidisciplinary approach was used in its evaluation. We were only able to confirm the diagnosis by molecular biology techniques, with this resulting in the correct diagnosis in 25-40% of cases. Treatment is symptomatic and the prognosis extremely variable