RESUMEN
The central nervous system has been considered to be uninvolved in nephropathic cystinosis. Survival into adulthood, following renal dialysis and transplantation, has brought attention to the sequelae of long-standing cystinosis. We examined 14 patients with cystinosis, 12 of whom had undergone renal transplantation. Two patients had neurologic symptoms. One patient had progressive bradykinesia, dementia, and spasticity with computed tomographic scan evidence of cerebral atrophy and multifocal mineralization in bilateral internal capsules and periventricular white matter. One patient had behavioral and, to a lesser extent, cognitive disturbance and computed tomographic scan evidence of marked, progressive cerebral atrophy. Although the remaining patients had normal results of neurologic examinations, 11 had roentgenographic evidence of generalized cerebral atrophy; 2 of these had abnormal electroencephalograms, 1 had borderline-deficient intellectual function, and 2 had computed tomographic scan evidence of multifocal, intracerebral mineralization. The patients with nervous system abnormalities were not distinguished by patterns of medication use, demographic or laboratory features, or the relative severity of cystinosis. Although the neurologic involvement in these patients suggests that cystinosis may eventually involve the central nervous system, the differential diagnosis must include other complications from renal failure, dialysis, and immunosuppression.
Asunto(s)
Cistinosis/complicaciones , Riñón/patología , Enfermedades del Sistema Nervioso/etiología , Adolescente , Adulto , Cistinosis/patología , Electroencefalografía , Femenino , Humanos , Masculino , Enfermedades del Sistema Nervioso/diagnóstico por imagen , Enfermedades del Sistema Nervioso/fisiopatología , Pruebas Neuropsicológicas , Psicometría , Factores de Tiempo , Tomografía Computarizada por Rayos XRESUMEN
The presence of melanocytic hamartomas on the iris, known eponymously as Lisch nodules, is highly characteristic of neurofibromatosis type 1 (NF1). Early recognition of NF1 is vital for optimal detection of associated tumours and for genetic counselling of family members. Although the iris nodules are probably not visible at birth, their prevalence in patients with NF1 gradually increases from birth to about 50% of 5-year-olds, 75% of 15-year-olds and 95-100% of adults over the age of 30. Iris hamartomas in NF1 are elevated, pale brown lesions that vary in appearance depending on the underlying colour of the iris. Colour illustrations are shown in this article, enabling the clinician readily to differentiate hamartomas from other iris lesions.