1.
Indian J Pediatr
;
2009 Feb; 76(2): 231-5
Article
in English
| IMSEAR
| ID: sea-82057
ABSTRACT
Joubert syndrome is a very rare autosomal recessive disorder with only 200 cases reported worldwide.Here we report 4 cases of this rare disorder with MRI findings.
Subject(s)
Ataxia/complications , Ataxia/genetics , Cerebellum/abnormalities , Child, Preschool , Chromosome Disorders/genetics , Developmental Disabilities/complications , Developmental Disabilities/genetics , Humans , Infant , Intellectual Disability/complications , Intellectual Disability/genetics , Magnetic Resonance Imaging , Male , Muscle Hypotonia/complications , Muscle Hypotonia/genetics , Oculomotor Nerve Diseases/complications , Oculomotor Nerve Diseases/genetics , Respiration Disorders/complications , Respiration Disorders/genetics , Syndrome
2.
Indian J Pediatr
;
2008 Dec; 75(12): 1269-71
Article
in English
| IMSEAR
| ID: sea-78698
ABSTRACT
Congenital absence of one or both carotid arteries is a rare anomaly. It is usually discovered incidentally by computed tomography, or magnetic resonance imaging of head and neck taken for some other reason. Most of the patients are asymptomatic, although there is a close association of intracranial aneurysms and subarachinoid hemorrhage in many patients. Here we report a case of right internal carotid agenesis in a young female associated with recent onset amnestic syndrome.