ABSTRACT
Alagille syndrome (AGS) is a rare autosomal dominant inherited disorder, with major clinical manifestations of bile duct paucity, cholestasis, cardiovascular anomaly, ophthalmic abnormalities, butterfly vertebrae, and dysmorphic facial appearance. It is caused by heterozygous mutations in JAG1 or NOTCH of the Notch signaling pathway presenting with variable phenotypic penetrance and involving multiple organ systems. The following case report describes a unique case of a 16-year-old female with AGS who presented with the primary complaint of renovascular hypertension. She had a medical history of ventricular septal defect and polycystic ovary syndrome. The patient had a dysmorphic facial appearance including frontal bossing, bulbous tip of the nose, a pointed chin with prognathism, and deeply set eyes with mild hypertelorism. Stenoocclusive changes of both renal arteries, celiac artery, lower part of the abdominal aorta, and left intracranial artery, along with absence of the left internal carotid artery were found on examination. Whole exome sequencing was performed and revealed a pathologic mutation of JAG1, leading to the diagnosis of AGS. Reverse phenotyping detected butterfly vertebrae and normal structure and function of the liver and gallbladder. While the representative symptom of AGS in most scenarios is a hepatic problem, in this case, the presenting clinical features were the vascular anomalies. Clinical manifestations of AGS are diverse, and this case demonstrates that renovascular hypertension might be in some cases a presenting symptom of AGS.
ABSTRACT
PURPOSE: AHC characterized by sudden onset of gross hematuria, dysuria and frequency occurs in children and young adults as a self-limited disease that should be differentiated from serious renal disorders. We have performed this study to establish the cause and characterize the clinical features of this illness in Korean children. METHODS: 19 cases collected prospectively for 30 month-period over 1991-1993 were reviewed. Urine specimens were obtained after normal voidings and inoculated into Hep-2 cell monolayers for virologic study, and cultured as standard method for bacteria. Isolates producing a cytopathic effect characteristic of adenovirus were confirmed by indirect immunofluorescent staining with monoclonal antibody specific to adenovirus and also by electron microscopy. Adeno-viruses were typed by hemagglutination-inhibition test by Dr. Piedra at the Texas Medical Center, USA. RESULTS: The ages of the patients were between 5 months and 14 years. Adenovirus was isolated from the urine in 8 cases(42%) and E. coli in 2(10.5%). Of 8 patients with positive culture, adenovirus type 7a was recovered in 4 cases, and adenvirus type 11 in 4 cases. Seven of the 8 patients with positive adenovirus culture were boys while E. coli was isolated only in girls. No sexual difference was found in cultur-negative group(M:F=4:5). The sudden onset of painful hematuria was the most impressive manifestation. Gross hematuria continued for 3 to 15(average 8.9) days. Suprapubic pain was present in 4. Only one patient had mild fever. Ten of 11 ultrasonic examinatinons showed thickening of bladder wall and decreased filling capacity. CONCLUSIONS: These data suggest that culture for viruses may be useful method for differential diagnosis of AHC and adenovirus type 7a is newly identified to be one of the important causes of this illness. Further studies on ABC are needed to investigate the unexplained part of etiology.