β‘ Reference SNPs: rs2071410,
Cytomegalovirus infection and Joubert's syndrome
β Scribed by R. Nuri Sener
- Publisher
- Elsevier Science
- Year
- 1997
- Tongue
- English
- Weight
- 268 KB
- Volume
- 21
- Category
- Article
- ISSN
- 0895-6111
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β¦ Synopsis
A patient with serologically proven congenital cytomegalovirus (CMV) infection is described with periventricular calcifications on CT. The condition was associated with the typical cerebellar changes of clinicoradiologically proven Joubert's syndrome. Although this may be a chance association only, the condition raised the question if an early intrauterine CMV infection, which affects the cerebellum, may contribute to the occurrence of Joubert's syndrome.
π SIMILAR VOLUMES
Joubert's syndrome is a rare developmental defect of the cerebellar vermis associated with episodic hyperpnea and apnea, abnormal eye movements, and mental retardation. The condition is usually diagnosed clinically during the neonatal period. This article reports nine patients with the syndrome (six
Cytomegalovirus (CMV) infection is very common in acquired immmune deficiency syndrome (AIDS) with approximately 40% of patients presenting CMV visceral involvement at advanced stage disease. The most common localizations are retinitis and gastrointestinal involvement; central nervous system disorde
The striking clinical picture of periodic hyperpnea and apnea, hypotonia, ataxia, mental retardation, retinal dystrophy, and oculomotor abnormalities found in association with radiologic evidence of agenesis of the cerebellar vermis characterizes Joubert's syndrome. We describe the cranial sonograph