Three malformation complexes related to neural crest development.

We present an individual with three distinct malformation complexes, DiGeorge syndrome, CHARGE association and Dandy-Walker malformation. An extensive literature review has shown that DiGeorge syndrome and CHARGE association rarely occur simultaneously. The presence of both these malformation complexes with Dandy-Walker malformation has not been previously reported. These three malformation complexes may all be related by neural crest maldevelopment.

MR imaging of biliary cysts in children with biliary atresia: clinical associations and pathologic correlation.

OBJECTIVE: We used MR imaging to determine the prevalence of biliary cysts in children with end-stage biliary atresia and evaluated the association of cysts with cholangitis, choleretic therapy, portoenterostomy, biochemical abnormalities, and MR findings of end-stage liver disease. The MR features of these cysts were correlated with their gross and histopathologic appearances. MATERIALS AND METHODS: We retrospectively reviewed 48 MR studies, clinical history, and laboratory data of 44 consecutive children with biliary atresia. RESULTS: MR images showed cysts in eight patients (18%). Cysts were statistically (p < .04) more common in patients who had a history of cholangitis, but were not associated with choleretic therapy or portoenterostomy surgery. Cysts were not statistically correlated with abnormalities in hepatic biochemical function or MR features of end-stage liver disease. Four livers with cysts were available for histopathologic study. Cysts were filled with bile, and most had an epithelial lining, consistent with a biliary origin. The epithelium was frequently ulcerated, accompanied by periportal extravasation of bile and inflammation. These findings suggest chronic obstruction with microscopic perforation. CONCLUSION: Biliary cysts are common in biliary atresia and may be related to previous episodes of cholangitis with attendant obstruction of biliary radicles. The presence of these cysts did not correlate with hepatic function, portoenterostomy surgery, or the extent of liver disease.

Air in the temporomandibular joint fossa: CT sign of temporal bone fracture.

Temporal bone fractures can be difficult to detect clinically and radiographically. Air is sometimes present in the glenoid fossa of the temporomandibular joint (TMJ) at computed tomography (CT) of acute basilar skull fractures. This study evaluated TMJ fossa air as a sign of temporal bone fracture. Initial CT scans of the head in 114 patients with a diagnosis of basilar skull fracture at discharge were retrospectively reviewed. TMJ fossa air was present in 23 of 114 patients (20.2%) and was bilateral in three patients. Only temporal bone fractures were significantly (P less than .001) associated with TMJ fossa air. Temporal bone fractures were observed at CT in 23 of 26 cases of TMJ fossa air, but in three of 26 cases, TMJ fossa air was the only CT sign of clinically apparent temporal bone fractures. TMJ fossa air is associated with acute temporal bone fracture and may be the only CT sign of an otherwise inconspicuous temporal bone fracture.

Mild fetal renal pelviectasis. Differentiation from hilar vascularity using color Doppler sonography.

Ultrasound often detects a sonolucent region in the hilum of the fetal kidney. Although this sonolucency is usually assumed to represent mild dilatation of the fetal renal collecting system, in pediatric and adult kidneys blood vessel lumina can simulate pelviectasis. We used color Doppler ultrasound to differentiate the fetal renal collecting system from hilar blood vessels and to evaluate how often blood vessels account for the sonolucent region often demonstrated in the renal hilum during antenatal sonography. Twenty-nine kidneys in fetuses with sonolucent hilar regions greater than 2 mm in anteroposterior (AP) dimension were studied with color Doppler ultrasound. Doppler signal was demonstrated in blood vessels adjacent to, but not within, the sonolucent area in the hilum of all 29 kidneys. Based on the absence of color signal in the sonolucent hilar regions studied, with color signal seen in adjacent blood vessels, these regions were felt to represent mildly dilated collecting systems rather than renal vasculature. We conclude that color Doppler ultrasound can differentiate mild pelviectasis from hilar blood vessels in the fetal kidney. Sonolucent areas measuring 2 mm or greater in AP dimension are unlikely to be attributable to renal vasculature.