ABSTRACT
PURPOSE: To describe a child with Muscle-Eye-Brain disease (MEB), one of three types of congenital muscular dystrophy associated with ocular abnormalities. METHODS: Case report. RESULTS: The child showed severe visual impairment due to progressive myopia and retinal degeneration, a pachygyria-type of migration disorder of the brain with a nodular cortical surface, i.e. cobblestone cortex, as well as muscular weakness and severe mental retardation. CONCLUSION: Ophthalmological assessments are important to help to diagnose and follow children with congenital muscular dystrophy.
Subject(s)
Abnormalities, Multiple/diagnosis , Brain/abnormalities , Eye Abnormalities/diagnosis , Muscular Dystrophies/congenital , Muscular Dystrophies/diagnosis , Evoked Potentials, Visual , Fundus Oculi , Humans , Infant , Magnetic Resonance Imaging , Mental Disorders/diagnosis , Myopia/diagnosis , Retinal Degeneration/diagnosisABSTRACT
UNLABELLED: Congenital toxoplasmosis may lead to severe visual impairment or neurological sequelae in the child. PURPOSE: To study the severity of the primary and late ophthalmological dysfunction during a prospective incidence study of congenital toxoplasmosis in the Stockholm and Skåne counties. METHODS: Blood collected on phenylketonuria (PKU) cards from 40,978 consecutively born children were investigated for antitoxoplasma antibodies. Children with verified congenital toxoplasmosis were treated for 12 months with antiparasitic therapy and followed ophthalmologically, neurologically and serologically every third month. RESULTS: Three children had congenital toxoplasmosis. Two of these were asymptomatic at birth and would have escaped early detection without screening. One child had unilateral severe visual impairment and CNS involvement. The incidence of congenital toxoplasmosis was less than 1:10,000. CONCLUSION: Neonatal screening is of importance to diagnose asymptomatic infected children with congenital toxoplasmosis as treatment has been shown to reduce long-term sequelae. Ophthalmological investigations should start early and continue in co-operation with paediatricians.
Subject(s)
Toxoplasmosis, Cerebral/diagnosis , Toxoplasmosis, Congenital/diagnosis , Toxoplasmosis, Ocular/diagnosis , Adult , Animals , Antibodies, Protozoan/blood , Antiprotozoal Agents/therapeutic use , Chorioretinitis/diagnosis , Chorioretinitis/drug therapy , Chorioretinitis/epidemiology , Chorioretinitis/parasitology , DNA, Protozoan/analysis , Female , Follow-Up Studies , Humans , Immunoglobulin G/analysis , Immunoglobulin M/analysis , Incidence , Infant , Magnetic Resonance Imaging , Male , Prospective Studies , Sweden/epidemiology , Tomography, X-Ray Computed , Toxoplasma/genetics , Toxoplasma/immunology , Toxoplasma/isolation & purification , Toxoplasmosis, Cerebral/drug therapy , Toxoplasmosis, Cerebral/epidemiology , Toxoplasmosis, Congenital/drug therapy , Toxoplasmosis, Congenital/epidemiology , Toxoplasmosis, Ocular/drug therapy , Toxoplasmosis, Ocular/epidemiology , Vision ScreeningABSTRACT
PURPOSE: To prospectively study the incidence of structural and/or functional ophthalmological abnormalities in the offspring to an unselected population of women with epilepsy, subjected to a well controlled antiepileptic drug (AED) treatment during pregnancy. METHODS: Forty-three children prenatally exposed to antiepileptic drugs and 47 controls were included. Blinded ophthalmological examinations including fundus photography were performed at a median age of 7 years and 4 months. RESULTS: No major eye anomalies were found except in one child in the exposed group who had nystagmus and low vision. The visual acuity was lower in the eye with lowest acuity among the exposed children (p < 0.05). No other significant difference was found between the two groups. CONCLUSION: The results suggest that a well-controlled treatment with AEDs, preferably monotherapy, during pregnancy does not have any major adverse effects on the development of the eye and ophthalmological functions.
