RESUMO
PURPOSE: Presentation of diagnostic methods and results obtained in childre with nystagmus, with suspicion of ocular albinism. MATERIAL AND METHODS: Records of 9 children (range 0.2 to 5.5 years) are presented. In all cases family history, ophthalmic examination and visual evoked potentials were analyzed. RESULTS: Clinical signs of ocular albinism were found in all patients. 2 children had cutaneous albinism, VEP records of 7 children indicated abnormalities typical for albinism, clinical signs of gene carrying were found in 7 mothers. CONCLUSIONS: Clinical signs enable us to diagnose ocular albinism with relatively high probability, nevertheless characteristic VEP records confirm diagnosis in clinically difficult cases.
Assuntos
Albinismo Oculocutâneo/complicações , Albinismo Oculocutâneo/diagnóstico , Nistagmo Congênito/complicações , Nistagmo Congênito/diagnóstico , Albinismo Oculocutâneo/genética , Pré-Escolar , Potenciais Evocados Visuais , Feminino , Humanos , Lactente , Masculino , Estimulação Luminosa , Acuidade VisualRESUMO
The function of the central nervous system and especially spinal cord and brainstem, were evaluated. Brainstem (BAEPs) and somatosensory evoked potentials (SEPs) were used with the stimulation of the peroneus nerve in 52 children at the age of 4.4 up to 18 years (mean age 11.9) with chronic bladder dysfunction of various etiology. Abnormal evoked potentials were recorded in 34 patients. The most frequent abnormality in SEPs was delayed latency of central conduction time and in L5-Th 10. BAEPs demonstrated atopic morphology of III-IV wave records. All performed evoked potential examinations confirmed that the dysfunction of the central nervous system may result in failure treatment in these children.