Report of a case with Joubert syndrome and literature review / 中华儿科杂志

<p><b>OBJECTIVE</b>To explore the clinical feature, imaging and their diagnostic value for Joubert syndrome (JS).</p><p><b>METHOD</b>The clinical data, imaging feature, and 31 references from China Biomedical literature database (CBMdise) were reviewed and analyzed.</p><p><b>RESULT</b>The age of onset of 32 patients including male 20 and female 12 ranged from 3 days to 6 years (mean 2.2 years). All the 32 patients with Joubert syndrome showed "slow growth" and "reduced muscle tension", 26 cases (81.3%) showed "gasp for breath", 26 cases (81.3%) showed "unusual motion of eyeball", 2 cases (6.3%) showed additional fingers (toes), 6 cases (18.8%) showed stretching tongue with agape. The typical imaging features of Joubert syndrome included "molar tooth sign", "midline cleavage" between cerebellar hemispheres and "bat-wing" like fourth ventricle, all the 32 patients with Joubert syndrome showed "midline cleavage", "molar tooth sign" was present in 29 cases (90.1%), and "bat-wing" like fourth ventricle in 30 cases (93.8%).</p><p><b>CONCLUSION</b>Joubert syndrome is a rare congenital brain malformation. The typical clinical manifestations included "gasp for breath", "reduced tension of muscle", "slow growth" and "unusual motion of eyeball", and at the same time the patients had the following typical imaging features of brain: "molar tooth sign", "midline cleavage" and "bat-wing" like fourth ventricle.</p>

Fenestration of the anterior cerebral artery detected by magnetic resonance angiography / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Fenestration of the proximal anterior cerebral artery (ACA) A1 segment is a rare anatomic variation. The purpose of the this study was to report the incidence of fenestration in the proximal segment of the anterior cerebral artery and to delineate its configurations on cranial MR angiography.</p><p><b>METHODS</b>Magnetic resonance angiography (MRA) was performed in 762 patients using 1.5 T imagers during the period July 2007 through September 2008. All images were obtained by the three-dimensional time-of-flight (3D TOF) technique. Volume rendering (VR) images in the horizontal rotation view were displayed stereoscopically. The presence of fenestration in the proximal segment of the anterior cerebral artery was identified and evaluated retrospectively by MRA.</p><p><b>RESULTS</b>Six patients (four men and two women, 15 to 63 years of age, median age 50 years) had proximal ACA fenestration. The appearance rate of ACA fenestration was 0.8% (6/762). All 6 fenestrations were located at the A1 segment: three of them were with a slit-like shape and three were with a convex-lens-like shape, 5 of the right A1 segment, 1 of the left A1 segment.</p><p><b>CONCLUSION</b>Recognizing ACA fenestration is important to interpret cranial MR angiographys and helpful to make a plan for neurosurgical procedures or neurological intervention.</p>