Abstract
JSRD are rare autosomal recessive brain malformations. We hypothesized that MR imaging can assess fetuses at risk for JSRD and might influence their diagnoses. We prospectively performed cranial MR imaging for 12 fetuses (mean GA, 23 weeks; SD, 3.7) at 25% recurrence risk for JSRD. We correlated prenatal MR imaging findings with postnatal MR imaging and clinical outcome. Retrospectively, we compared posterior fossa measurements of the cases with those of 24 age-matched fetuses with proved normal brain MR imaging. Institutional review board approval and consents were obtained. Statistical methods included a t test and ANCOVA tests. Fetal MR imaging correctly diagnosed 3 cases at 22, 28, and 29 weeks of gestation as JSRD, and 9 cases as normal. In JSRD-affected fetuses, prenatal MR imaging detected narrow pontomesencephalic junction (isthmus) with deepening of the interpeduncular fossa and thick horizontally placed superior cerebellar peduncles (MTS), deformed anteriorly convex floor of the fourth ventricle, and midline cerebellar cleft in place of the hypoplastic vermis. Measurements on axial fetal MR imaging at pontomesencephalic junction, ratio of AP diameters of interpeduncular fossa to midbrain/isthmus, and ratio of the AP to transverse diameters of the fourth ventricle were significantly higher in JSRD-affected fetuses than in nonaffected cases and the control group. MR imaging can diagnose JSRD in at-risk pregnancies by detecting posterior fossa signs. Measurements at the pontomesencephalic junction may enhance fetal MR imaging accuracy in diagnosing JSRD.
Highlights
MethodsPatients The patients were enrolled in a sequential fashion in the Genetics Clinic at National Research Centre, Cairo, Egypt, between June 2004 and May 2008, from families meeting inclusion criteria for JSRD in this institutional review board-approved study
AND PURPOSE: JSRD are rare autosomal recessive brain malformations
Joubert syndrome and related cerebellar disorders are a .group of rare autosomal recessive conditions characterized primarily by hypotonia, ataxia, developmental delay, abnormal respiratory pattern, and ocular movement abnormalities.[1,2]
Summary
Patients The patients were enrolled in a sequential fashion in the Genetics Clinic at National Research Centre, Cairo, Egypt, between June 2004 and May 2008, from families meeting inclusion criteria for JSRD in this institutional review board-approved study. The inclusion criteria included a family member or more with the typical MTS brain imaging finding in addition to clinical evidence of the syndrome (hypotonia and developmental delay, accompanied by either abnormal breathing or abnormal eye movement). The classical form of the JS was documented in 11 families with its characteristic clinical features of hypotonia, psychomotor delay, oculomotor apraxia, neonatal breathing dysregulation, pigmentary retinal changes, and polydactyly; COACH was diagnosed in 1 family with cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis. The on-line Table shows the clinical and imaging data of the classical JS-affected family members. Brain MR imaging studies of all of the classic JSaffected family members showed the characteristic MTS. To control variation of GA in the studied cases, ANCOVA was used where the GA was the covariate, all of the MR imaging findings were the dependent test, and the affected group was the independent variable. The statistical analysis was done by using SPSS, version 12 (SPSS, Chicago, Illinois)
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