RESUMEN
Hereditary hyperekplexia (HH) is a disorder of the inhibitory glycinergic neurotransmitter system. Mutations in five genes have been reported to cause the disease. However, only single mutation in GLRB, the gene encoding beta-subunit of the glycine receptor, in a singleton patient with HH has been found to date. In this study, 13 patients with HH were identified through neurology and genetic clinics. Formal clinical examinations, linkage analysis, homozygosity mapping, in-mutation screening of GLRB and in silico functional analyses were carried out. A novel mutation in GLRB among nine patients was identified. This c.596 T>G perturbation results in the change of the highly conserved methionine at position 177 to arginine. Besides the classical HH phenotype, seven patients had esotropia and few of them had behavioral problems. This study presents a large family with HH as a result of homozygous mutation in GLRB and expands the clinical spectrum of HH to include eye misalignment disorder. Moreover, the report of these familial cases supports the previous evidence in a single patient of an autosomal recessive inheritance of HH because of defects in GLRB.
Asunto(s)
Rigidez Muscular/diagnóstico , Rigidez Muscular/genética , Mutación , Receptores de Glicina/genética , Adolescente , Adulto , Secuencia de Aminoácidos , Secuencia de Bases , Niño , Familia , Femenino , Genotipo , Humanos , Escala de Lod , Masculino , Modelos Moleculares , Datos de Secuencia Molecular , Linaje , Estructura Secundaria de Proteína , Receptores de Glicina/química , Adulto JovenRESUMEN
PURPOSE: To present a case of Vogt-Koyanagi-Harada (VKH) associated with type I diabetes mellitus and celiac disease in a 3 year old female. METHODS: We studied a three-year old female who presented with clinical manifestation of VKH and type I Diabetes mellitus and celiac disease. RESULTS: Patient was found to have hyperglycemia with type I diabetes mellitus. Duodenal mucosal biopsy specimen confirmed the diagnosis of celiac disease. Patient's ocular inflammation was treated by topical and systemic corticosteroid and immune-suppressive therapy. Her diabetes mellitus was controlled by insulin and her celiac disease was controlled by gluten-free diet. CONCLUSIONS: The association of VKH with two autoimmune diseases (celiac disease and type I diabetes mellitus) is rare. This case is, to our knowledge, the youngest patient reported with VKH.
Asunto(s)
Enfermedad Celíaca/complicaciones , Diabetes Mellitus Tipo 1/complicaciones , Síndrome Uveomeningoencefálico/etiología , Enfermedad Celíaca/dietoterapia , Preescolar , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Femenino , Glucocorticoides/uso terapéutico , Humanos , Hiperglucemia/diagnóstico , Inmunosupresores/uso terapéutico , Insulina/uso terapéutico , Síndrome Uveomeningoencefálico/tratamiento farmacológicoRESUMEN
BACKGROUND: Optic disc elevation associated with Down syndrome is an uncommon phenomenon and raises the suspicion of an intracranial space-occupying lesion, thus necessitating the consideration of invasive and noninvasive investigations. METHOD OF STUDY: Four patients with Down syndrome and optic disc elevation without an underlying intracranial pathology are reported. Thorough ophthalmological and neuroradiological investigations were performed on each patient. Mild hyperopia occurred in three patients and myopia in one. CONCLUSIONS: We believe that in most Down syndrome patients with disc elevation, fluorescein angiography and/or clinical follow-up may be sufficient.
Asunto(s)
Síndrome de Down/patología , Disco Óptico/patología , Niño , Preescolar , Femenino , Angiografía con Fluoresceína , Fondo de Ojo , Humanos , Presión Intracraneal , MasculinoRESUMEN
Richner-Hanhart syndrome (Tyrosinemia Type II) is an autosomal recessive disorder of amino acid metabolism characterized by ocular changes, painful palmoplantar hyperkeratosis, and mental retardation. Serum tyrosine increases due to tyrosine aminotransferase deficiency resulting in the deposition of tyrosine crystals in the cornea and in corneal inflammation. Patients are often misdiagnosed as having herpes simplex keratitis. We report on a child who presented with bilateral keratitis secondary to Tyrosinemia Type II diagnosed as herpes simplex keratitis.
Asunto(s)
Errores Innatos del Metabolismo de los Aminoácidos , Queratitis , Queratodermia Palmoplantar , Hígado/enzimología , Tirosina Transaminasa/deficiencia , Errores Innatos del Metabolismo de los Aminoácidos/sangre , Niño , Consanguinidad , Córnea/patología , Opacidad de la Córnea/patología , Diagnóstico Diferencial , Femenino , Humanos , Discapacidad Intelectual , Queratitis/diagnóstico , Queratitis Herpética/diagnóstico , Síndrome , Tirosina/sangre , Agudeza VisualRESUMEN
It has become increasingly apparent that Bacillus cereus can cause a severe and devastating form of endophthalmitis following penetrating trauma by a metallic object. B. cereus is an uncommon aetiological agent in non-clostridial gas-forming infections. The patient studied in this single case report showed evidence of intraocular gas mimicking gas gangrene infection. The physiology of non-clostridial bacteria producing gas from anaerobic metabolic conditions is reviewed. Further intraocular and systemic complications which may be avoided by accurate and early diagnosis and the use of recommended treatment with antibiotics such as clindamycin.
