RESUMO
Two non-Japanese patients with ossification of the cervical posterior longitudinal ligament were described. This abnormality is very common in Japan, but rare in non-Japanese people. The reason is unknown. Although the disease appears to be generally asymptomatic, it can cause a myelopathy. The clinical picture, the diagnostic important X-ray examinations and the histopathological findings are revealed. The similarity to the vascular pattern in the lumbar spine in cases of intermittent neurogenic claudication is noted.
Assuntos
Vértebras Cervicais/diagnóstico por imagem , Ligamentos Articulares/diagnóstico por imagem , Ossificação Heterotópica/diagnóstico por imagem , Idoso , Vértebras Cervicais/cirurgia , Feminino , Humanos , Laminectomia , Ligamentos Articulares/cirurgia , Masculino , Pessoa de Meia-Idade , Ossificação Heterotópica/cirurgia , Compressão da Medula Espinal/diagnóstico por imagem , Doenças da Coluna Vertebral/diagnóstico por imagem , Estenose Espinal/diagnóstico por imagem , Tomografia Computadorizada por Raios XRESUMO
De novo translocation (2;18)(q21;q22) in a patient with severe epilepsy developmental delay and mild dysmorphism: We report on a patient presenting with severe epilepsy, hypotonia, developmental delay, blepharophimosis, low-set ears, camptodactyly and tapering fingers, and cutaneous syndactyly of toes II and III of the right foot. The MRI showed some loss of volume of the white matter and delayed myelination, no other specific anomalies were present. Chromosome analysis revealed a translocation involving chromosomes 2 and 18, which was characterized further by FISH using band-specific probes. The possibility of a submicroscopic deletion is discussed and the patient is compared with patients reported in the literature with either 2q21 or 18q22 deletion.
Assuntos
Cromossomos Humanos Par 18/genética , Cromossomos Humanos Par 2/genética , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/genética , Epilepsia/diagnóstico , Epilepsia/genética , Face/anormalidades , Translocação Genética/genética , Deleção Cromossômica , Citogenética/métodos , Evolução Fatal , Humanos , Hibridização in Situ Fluorescente , Lactente , Masculino , Índice de Gravidade de DoençaRESUMO
An 11-year-old girl with Sydenham chorea presented with a rapid onset of serious restlessness of mainly the right side of the body. Additional laboratory investigations revealed no abnormalities, yet this is not unusual for such cases. Valproic acid and pimozide were then successively prescribed because of the chorea. For secondary prevention she received long-term oral penicillin. Sydenham chorea is a manifestation of rheumatic fever and occurs after a throat infection by group A streptococci. The disease is characteristic and consists of a combination of choreic movements, hypotonia and emotional lability. The clinical course is diverse. Improvement usually occurs over a period of several months, although a significant proportion of patients exhibit little recovery.