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07:36
Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats
Published on: November 20, 2015
Joubert's syndrome and prenatal hydrocephalus
J S Anderson1, M T Gorey, J F Pasternak
1Northwestern University School of Medicine, and Division of Neuroradiology, Evanston Hospital, Illinois 60201, USA.
Pediatric Neurology
|June 17, 1999
Summary
Joubert syndrome, a rare genetic disorder, typically presents with cerebellar abnormalities. This study highlights a case of Joubert syndrome associated with congenital hydrocephalus, a previously undescribed link.
Area of Science:
- Genetics and Neurology
- Developmental Pediatrics
Background:
- Joubert syndrome is an autosomal-recessive disorder.
- Key features include cerebellar vermis hypoplasia, hypotonia, developmental delay, abnormal breathing, and eye movement issues.
Observation:
- A patient with Joubert syndrome and congenital hydrocephalus was identified.
- This represents the first reported association between these two conditions.
Findings:
- Radiological findings confirmed Joubert syndrome, including a midline cerebellar cleft and characteristic fourth ventricle shape.
- Congenital hydrocephalus was a significant co-occurring condition.
Implications:
- This finding expands the understanding of Joubert syndrome's potential etiologies.
- It suggests prenatal hydrocephalus may play a role in cerebellar abnormalities in some cases.
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