Subject(s)
Frameshift Mutation/genetics , Pantothenate Kinase-Associated Neurodegeneration/genetics , Phosphotransferases (Alcohol Group Acceptor)/genetics , Retinal Telangiectasis/genetics , Adolescent , Child , Female , Genetic Predisposition to Disease/genetics , Genotype , Homozygote , Humans , MaleABSTRACT
This report describes the unusual syndrome of opsoclonus-myoclonus associated with group A streptococcal infection in a 9-year-old Nepalese boy.
Subject(s)
Opsoclonus-Myoclonus Syndrome/etiology , Streptococcal Infections/complications , Streptococcus pyogenes/isolation & purification , Child , Humans , Male , Nepal , Opsoclonus-Myoclonus Syndrome/diagnosis , Streptococcal Infections/microbiologyABSTRACT
The aims of the study were to describe the functional ability, health status, and health-related quality of life (HRQL) of young children with a vision impairment or blindness (VI/BL) and to examine the effect of different types of ophthalmic condition and the presence of other impairments or systemic disorders. A cross-sectional community survey of children aged 3 to 8 years with VI/BL was conducted in four areas of England using the Health Utilities Index Mark 3 system. Seventy-nine children (47 males, 32 females; mean age 6 y 2 mo [SD 1 y 6 mo]) met the selection criteria: 43% had a visual pathway condition, 38% a condition of the eye, and 19% nystagmus alone; and 61% had additional impairments/disorders. Eighty per cent had functional limitations on at least two of the following attributes: vision, hearing, speech, cognition, ambulation, dexterity, emotion, and pain. Forty-four per cent had functional limitations on four or more attributes. Children with nystagmus alone had significantly higher mean HRQL utility scores (0.80 [SD 0.26]) than children with a condition of the eye (0.45 [SD 0.33]), who, in turn, had higher scores than children with a visual pathway condition (0.05 [SD 0.33], p=0.002). Children with an isolated VI/BL had significantly higher mean scores (0.73 [SD 0.21]) than those with additional impairments/disorders (0.09 [SD 0.34], p<0.001). These findings underline the need for a broad assessment of each child with VI/BL and a multidisciplinary approach to care.
Subject(s)
Blindness/psychology , Health Status , Quality of Life , Vision Disorders/psychology , Blindness/complications , Child , Child, Preschool , Cross-Sectional Studies , Developmental Disabilities/classification , Developmental Disabilities/complications , Developmental Disabilities/psychology , Female , Health Status Indicators , Humans , Male , Severity of Illness Index , Vision Disorders/classification , Vision Disorders/complicationsABSTRACT
An 8-year-old boy developed tremor, unsteadiness, chorea, and eye movement abnormalities on starting lamotrigine for myoclonic jerks. Investigations for a neurodegenerative disorder were negative. Symptoms and signs resolved on stopping lamotrigine. He was well and asymptomatic on follow-up after 4 years. Another 7-year-old boy who started on lamotrigine for suspected absence seizures developed abnormalities of eye movement with associated cognitive decline, which also resolved on discontinuing the medication. Eye movement abnormalities, involuntary movements, and behavioral changes appear to be unusual side effects of lamotrigine therapy.
