RESUMO
OBJECTIVE: To determine the relative incidence of Chiari I malformations in children with cystinosis compared with those in the general population. STUDY DESIGN: Magnetic resonance imaging scans were performed on 53 patients with nephropathic cystinosis and 120 controls, age range 3-18 years. RESULTS: Ten of 53 (18.9%) patients with cystinosis had Chiari I or tonsillar ectopia, and only 2 of 120 controls (1.6%) had a similar finding. At least 2 of the patients had symptoms or signs thought to be related to the malformation, and one had surgical decompression. Two had an associated cervical syrinx. CONCLUSIONS: Children with cystinosis have a 12-fold higher prevalence of Chiari I malformations than the general pediatric population. Chiari I malformations should be high on the differential diagnosis when individuals with cystinosis develop neurologic signs and symptoms, and magnetic resonance imaging scans should be performed on children with cystinosis who present with new-onset headache, ataxia, incontinence, or other unexplained neurologic symptoms.
Assuntos
Malformação de Arnold-Chiari/complicações , Cistinose/complicações , Adolescente , Malformação de Arnold-Chiari/diagnóstico , Malformação de Arnold-Chiari/epidemiologia , California/epidemiologia , Criança , Pré-Escolar , Cistinose/diagnóstico , Feminino , Humanos , Incidência , Imageamento por Ressonância Magnética , Masculino , PrevalênciaRESUMO
OBJECTIVE: To determine whether early treatment with cysteamine affects cognitive functioning in patients with nephropathic cystinosis. STUDY DESIGN: Forty-six subjects aged 3-18 years with cystinosis underwent cognitive testing to determine intelligence, visual-spatial abilities, and visual-motor skills. An age-matched control group (n = 85; age 2-22 years) underwent the same tests. Age at diagnosis and age at initiation of treatment with cysteamine were recorded at the time of testing. RESULTS: Patients with cystinosis treated at or after age 2 years (late-treatment group) scored significantly lower on verbal, performance, and full-scale IQ measures, as well as on a test of visual-spatial skills, compared with patients treated before age 2 years (early-treatment group) and controls. Both groups of subjects with cystinosis demonstrated impaired visual-motor skills compared with controls, with no difference between the early-treatment and late-treatment groups. CONCLUSION: Early treatment with cysteamine appears to improve intellectual function in patients with nephropathic cystinosis. However, the lack of improvement in visual-motor function with early cysteamine treatment suggests possibly different mechanisms underlying visual-motor performance compared with other areas of cognition in this disorder.
Assuntos
Cognição , Cisteamina/uso terapêutico , Síndrome de Fanconi/tratamento farmacológico , Síndrome de Fanconi/psicologia , Adolescente , Fatores Etários , Criança , Pré-Escolar , Transtornos Cognitivos/etiologia , Transtornos Cognitivos/prevenção & controle , Síndrome de Fanconi/complicações , Humanos , Adulto JovemRESUMO
OBJECTIVES: Infantile nephropathic cystinosis is associated with a specific cognitive deficit in visual spatial processing in older children and adults. The cause of this deficit is unknown. This study was designed to determine whether the cognitive deficit is present in young children with cystinosis, suggesting an early effect of the genetic disorder on brain development. STUDY DESIGN: Young children (n = 25; age, 3-8 years) with cystinosis and 25 matched control subjects underwent cognitive testing, including tests of intelligence, visual perceptual, visual spatial, and visual motor functions. RESULTS: Children with cystinosis performed significantly more poorly on tests of visual spatial and visual motor function than did control subjects. Visual perceptual abilities were equivalent in the 2 groups. CONCLUSION: The same pattern of visual spatial deficit is present in young children with cystinosis as has previously been demonstrated in older children and adults, which suggests that there may be an influence of the cystinosis gene on brain development, rather than an adverse effect of prolonged cystine accumulation in the brain during childhood.