Raine syndrome.

Raine syndrome is a rare genetic disorder with characteristic features of exophthalmos, choanal atresia or stenosis, osteosclerosis and cerebral calcifications. Most of babies with this disorder die immediately after birth. We report a baby who was 7 weeks old at the time of presentation.

Clinical relevance of "bulging eyes" for the differential diagnosis of spinocerebellar ataxias / Relevância clínica do "bulging eyes" para o diagnóstico diferencial das ataxias espinocerebelares

Objective To investigate the relevance of the clinical finding of bulging eyes (BE) in a large Brazilian cohort of spinocerebellar ataxias (SCA), to assess its importance in clinical differential diagnosis among SCA. Methods Three hundred sixty-nine patients from 168 Brazilian families with SCA were assessed with neurological examination and molecular genetic testing. BE was characterized by the presence of eyelid retraction. Genetically ascertained SCA3 was detected in 167 patients, SCA10 in 68 patients, SCA2 in 20, SCA1 in 9, SCA7 in 6, and SCA6 in 3 patients. Results BE was detected in 123 patients with SCA (33.3%), namely 109 of the 167 SCA3 patients (65.3%) and in 5 of the others SCA patients (1 SCA10 patient, 2 SCA1 patients and 2 SCA2 patients). Conclusion BE was detected in the majority of patients with SCA3 (65.3%) and could be used with a clinical tool for the differential diagnosis of SCA. .

Objetivo Investigar a relevância do achado clínico de bulging eyes (BE) em uma grande amostra brasileira de pacientes com ataxias espinocerebelares (AEC), para avaliar sua importância no diagnóstico diferencial entre as AEC. Métodos Foram avaliados 369 pacientes de 168 famílias brasileiras com AEC através de exame neurológico e testes de genética molecular. BE foi caracterizado pela presença de retração palpebral. AEC3 foi determinada geneticamente em 167 pacientes, AEC10 em 68 pacientes, AEC2 em 20, AEC1 em 9, AEC7 em 6 e AEC6 foi encontrada em 3 pacientes. Resultados BE foi detectado em 123 pacientes com AEC (33,3%), correspondendo a 109 dos 167 pacientes com AEC3 (65,3%) e 5 pacientes com outras AEC (1 paciente com AEC10, 2 AEC1 e 2 pacientes com AEC2). Conclusão BE foi detectado na maioria dos pacientes com AEC3 (65,3%) e poderia ser usado com uma ferramenta clínica para o diagnóstico diferencial das AEC. .