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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Ataxia-telangiectasia (A-T) is a rare hereditary neurodegenerative disorder. Ataxia and telangiectasias are the hallmarks of the disease. A spectrum of manifestations may be seen in one family. There is no gold standard diagnostic test and diagnosis relies on clinical evaluation, exclusion of similar conditions, and supportive laboratory tests. More than 99% of individuals with classic A-T have mutations in ATM, the only gene known to be associated with ataxia-telangiectasia. We report a 28-months-old Sudanese boy who was presented with unsteady gait, frequent falls and telangectasias of the eyes. He also has had frequent episodes of respiratory tract infections.
Sudan J Paediatr 2011
PMID:Classic ataxia-telangiectasia in a Sudanese boy: Case report and review of the literature. 2749 7

Joubert syndrome is a rare autosomal recessive disorder. It is characterized by congenital ataxia, hypotonia, developmental delay and at least one of the following features: neonatal respiratory disturbances and abnormal eye movements; including nystagmus and oculomotor apraxia. Molar tooth appearance is an essential finding for the diagnosis of Joubert syndrome. We report a five-days-old newborn with mild hypotonia, abnormal pattern of respiration, abnormal eye movements and molar tooth sign on brain CT scan. Joubert syndrome is an uncommon inherited condition and delayed diagnosis is usually related to its variable, non-specific presentation. Awareness of the characteristic clinical and radiological findings in Joubert syndrome will help in early diagnosis, appropriate counseling and proper rehabilitation.
Sudan J Paediatr 2016
PMID:Joubert syndrome in a neonate: case report with literature review. 2765 54