Cerebellar involvement in midline facial defects with ocular hypertelorism.

OBJECTIVE: Twenty-four patients were evaluated to better characterize neurological and neuroradiological aspects of midline facial defects with ocular hypertelorism. METHODS: After a clinical genetics evaluation, the individuals were divided into two groups: 12 isolated cases (group 1) and 12 associated with multiple congenital anomalies (group 2). The investigation protocol included medical and family history, as well as dysmorphological, neurological, and neuroradiological evaluations by magnetic resonance imaging or computed tomography scan. RESULTS: Because there was no significant difference concerning the neurological aspects of groups 1 and 2, they were analyzed together. Mild hypotonia (24 of 24), abnormalities in cranial shape (24 of 24), cranial nerves (19 of 24), motor coordination (18 of 24), dynamic equilibrium (14 of 24), and language problems (8 of 24) were noted. Measurements of the posterior fossa showed hypoplastic cerebellar vermis (8 of 17), the cerebellum at lower normality limits (5 of 17), and signs of cerebellar hypoplasia (3 of 7). CONCLUSION: This study clearly demonstrates the presence of structural and functional neurological abnormalities related to midline facial defects with ocular hypertelorism, as well as involvement of the cerebellum. It provides a basis for future investigation of midline facial defects with ocular hypertelorism and should be considered during planning of rehabilitation treatment.

Avaliaçäo neurofisiológica no lúpus eritematoso sistêmico / Neurophysiologic evaluation in systemic lupus erythematosus

Com o intuito de avaliar a utilizaçÝo dos potenciais evocados cerebrais nas manifestaçöes neuropsiquiátricas (MNP) do lúpus eritematoso sistêmico (LES), 27 pacientes näo selecionados para qualquer manifestaçäo clínica foram estudados através de avaliaçäo neurológica, avaliaçÝo neuropsicológica usando o teste Mini-mental State Examination (MMSE). Os potenciais evocados somatossensitivos (PESS), auditivos (PEA) e visuais (PEV) e tomografia computadorizada cerebral (TCC) foram realizados em todos os pacientes. Setenta por cento dos pacientes tinham alguma forma de MNP e 37 por cento, distúrbios neurológicos, principalmente déficit de memória recente, que estava significativamente associado a convulsöes. Atrofia cerebral foi detectada pela TCC em 44 por cento dos casos mas sem correlaçäo com as MNP, potenciais evocados ou testes neuropsicológicos anormais. Os potenciais evocados somatossensoriais foram a mais freqüente alteraçäo neurofisiológica, mas observada apenas em quem tinha sintomas ou déficits neurológicos. Pontenciais evocados visuais alterados ocorreram em quatro pacientes sem sintomas visuais e foram reversíveis. Pontenciais evocados auditivos alterados ocorreram em um único paciente urêmico. Os potenciais evocados podem ser usados no manejo do lúpus neuropsiquiátrico para avaliar as vias sensitivas, auditivas e visuais