ABSTRACT
INTRODUCTION: Arteriovenous malformations (AVM) of the brain have a low prevalence but are responsible for a significant component of visual pathology in the young population. Vascular studies using selective angiography are necessary to identify arterial connections and venous drainage, and provide useful information for planning treatment. CLINICAL CASE: A 10-year-old child with a temporo-occipital vascular malformation resulting in a left homonymous hemianopia. DISCUSSION: Arteriovenous malformations of the brain are lesions with a high morbidity and mortality. For the ophthalmologist, they are of special importance due to the possibility of causing a variety of visual defects, depending on their location.
Subject(s)
Hemianopsia/etiology , Intracranial Arteriovenous Malformations/complications , Child , Humans , Intracranial Arteriovenous Malformations/diagnosis , Intracranial Arteriovenous Malformations/therapy , MaleABSTRACT
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.
Subject(s)
Blindness/diagnosis , Deafness/diagnosis , Heart Diseases/diagnosis , Insulin Resistance , Obesity/diagnosis , Child, Preschool , Humans , Male , SyndromeABSTRACT
Introducción: Las malformaciones arteriovenosas (MAV) son patologías de baja prevalencia pero responsable con relativa frecuencia de patología visual en la población joven. El estudio de la malformación vascular ha de realizarse mediante angiografías selectivas que marquen tanto las aferencias arteriales como los drenajes venosos, además, éstas, ofrecen información muy valiosa para orientar el tratamiento. Caso clínico: Se presenta un caso de hemianopsia homónima izquierda instaurada en un varón de diez años de edad con malformaciones arteriovenosas cerebrales temporo-occipitales derechas. Discusión: Las malformaciones arteriovenosas cerebrales son lesiones con una morbimortalidad elevada. Para el oftalmólogo, tienen especial importancia debido a la posibilidad de provocar, dependiendo de su localización, sintomatología visual variada
Introduction: Arteriovenous malformations (AVM) of the brain have a low prevalence but are responsible for a significant component of visual pathology in the young population. Vascular studies using selective angiography are necessary to identify arterial connections and venous drainage, and provide useful information for planning treatment. Clinical case: A 10-year-old child with a temporooccipital vascular malformation resulting in a left homonymous hemianopia. Discussion: Arteriovenous malformations of the brain are lesions with a high morbidity and mortality. For the ophthalmologist, they are of special importance due to the possibility of causing a variety of visual defects, depending on their location
Subject(s)
Male , Child , Humans , Intracranial Arteriovenous Malformations/complications , Intracranial Arteriovenous Malformations/therapy , Hemianopsia/etiology , Tomography, X-Ray Computed , Embolization, Therapeutic , Cerebral Angiography , Electroencephalography , RadiosurgeryABSTRACT
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
Subject(s)
Male , Child, Preschool , Humans , Nystagmus, Pathologic , Photophobia/diagnosis , Optic Nerve Diseases , Cardiomyopathy, Dilated/diagnosis , Magnetic Resonance Spectroscopy , SyndromeABSTRACT
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.
Subject(s)
Agenesis of Corpus Callosum , Chorioretinitis/diagnosis , Spasms, Infantile/diagnosis , Female , Humans , Infant , Magnetic Resonance Imaging , SyndromeABSTRACT
Caso clínico: Se presenta el caso de una niña de 2 meses y 3 semanas de vida que ingresa desde Urgencias por crisis comiciales. Fue diagnosticada en la semana 20 de gestación de agenesia de cuerpo calloso, posteriormente confirmada en ecografía cerebral postnatal. En la exploración del fondo de ojo, se observaron lagunas retinianas (coriorretinopatia lacunar) peripapilares en «sacabocados» en ambos ojos. La resonancia magnética craneal muestra agenesia completa del cuerpo calloso. Discusión: Las lesiones atróficas coriorretinianas con alteración del epitelio pigmentario de la retina, son fundamentales en el diagnóstico del síndrome de Aicardi
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
Subject(s)
Female , Infant , Humans , Spasms, Infantile/complications , Spasms, Infantile/diagnosis , Chorioretinitis/complications , Corpus Callosum/abnormalities , Chorioretinitis/diagnosis , Eye Abnormalities/complications , Eye Abnormalities/diagnosis , Corpus Callosum/injuries , Chorioretinitis/pathology , Chorioretinitis/therapy , Fundus Oculi , Magnetic Resonance Imaging/methods , Skull/pathology , Skull , Epilepsy/complications , Epilepsy/diagnosisABSTRACT
CLINICAL CASE: We report a case of a 12 year old male with vision loss (0.1 in both eyes). He also had sensorineural hearing loss (cochlear implant), asthma, dermatitis and alopecia. He was diagnosed with retrobulbar optic neuropathy, and was started on a treatment of intravenous corticosteroids, showing no improvement. A screening for congenital metabolopathies revealed a biotinidase deficiency, and treatment with biotin achieved a rapid clinical improvement. DISCUSSION: When faced with an optic neuropathy in a child, we must always look for a biotinidase deficiency, because biotin therapy is the only treatment that achieves a clinical improvement.
Subject(s)
Biotinidase Deficiency/complications , Optic Nerve Diseases/etiology , Biotin/therapeutic use , Biotinidase Deficiency/diagnosis , Biotinidase Deficiency/drug therapy , Child , Fundus Oculi , Humans , Male , Optic Nerve Diseases/diagnosis , Optic Nerve Diseases/drug therapy , Treatment Outcome , Vision Disorders/diagnosis , Vision Disorders/drug therapy , Vision Disorders/etiology , Visual Acuity , Visual Field TestsABSTRACT
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