ABSTRACT
PURPOSE: ARC syndrome refers to an association of arthrogryposis, renal tubular dysfunction, and cholestasis. The VPS33B gene was recently identified as the causative gene. So far, 41 cases of ARC syndrome have been reported worldwide, and it has rarely been reported in Korea. This study was conducted to report the clinical findings of seven ARC syndrome cases in Korean children, focusing especially on renal tubular dysfunction. METHODS: The hospital records of 7 cases diagnosed as ARC syndrome at Severance Hospital between Mar. 1995 and Aug. 2005 were reviewed and analyzed. RESULTS: Of the 7 cases, 4 were boys and 3 were girls. Six patients(85%) were born with normal birth weight at term, and one was born at preterm. All cases presented with cholestasis and severe jaundice. According to the type of arthrogryposis described by Brown et al, type 3 and 4 were found in 2 patients and type 6, 7, and the undistributed type in one patient respectively. Other associated clinical findings were as follows:failure to thrive in 6(85%), lax skin in 5(71%), and gray platelet syndrome in 4(57%). Urine analysis revealed 6 cases(85%) with proteinuria, 3(43%) with hematuria, 5(71%) with glycosuria, 2(29%) with phosphaturia and 2(29%) with calciuria. Serum electrolytes showed 4 cases(57%) with hyponatremia, 3(43%) with hypokalemia, and 1(14%) with creatinine elevation. Renal tubular dysfunctions were diagnosed as renal tubular acidosis in 6 cases(85%), nephrogenic diabetes insipidus in 2(29%), and Fanconi syndrome in 2(29%). During the follow-up period, 2(29%) had no treatment, 5(85%) had continuous supplementation to correct the electrolyte imbalance and acidosis, and 1(14%) had dialysis. Only one patient had a family history of ARC syndrome in a sibling. Four cases(57%) were diagnosed at the mean age of 8.2 months, and one case was lost during follow-up. Ages of the survived 2 cases were 13 and 25 months, respectively. CONCLUSION: The rare disease of ARC syndrome is associated with severe renal dysfunction. However, this study revealed that the renal manifestation of ARC syndrome in Korean children is relatively mild and survival rate is higher than that of previous studies. Contrary to previous reports, this study showed that familial cases are rare and sporadic occurence is possible in Korea. Thus, the diagnosis of this syndrome requires a careful evaluation of the renal function in cases of congenital arthrogryposis, and a mandatory genetic counseling of affected family for prevention of familial occurance.
Subject(s)
Child , Female , Humans , Acidosis , Acidosis, Renal Tubular , Arthrogryposis , Birth Weight , Cholestasis , Creatinine , Diabetes Insipidus, Nephrogenic , Diagnosis , Dialysis , Electrolytes , Fanconi Syndrome , Follow-Up Studies , Genetic Counseling , Glycosuria , Gray Platelet Syndrome , Hematuria , Hospital Records , Hypokalemia , Hyponatremia , Hypophosphatemia, Familial , Jaundice , Korea , Proteinuria , Rare Diseases , Siblings , Skin , Survival RateABSTRACT
The gray platelet syndrome (GPS) is a rare platelet storage pool deficiency with variable degrees of reduction in the numbers and contents of alpha granules. We report a case of GPS in a two month-old male patient who was admitted to the hospital because of congenital biliary atresia and hip dislocation under the impression of ARC (arthroglyposis, renal tubular dysfunction, and cholestasis) syndrome. Bleeding time was not prolonged and platelet count was normal. The peripheral smear demonstrated abnormal platelet morphology with many agranular and large forms. A platelet aggregation study was abnormal in response to adenosine diphosphate and collagen. Electron microscopy of platelets revealed marked decrease in alpha granules and increase in vacuoles. The patient underwent Kasai operation with mild complication of postoperative bleeding.
Subject(s)
Male , HumansABSTRACT
Dieulafoy's disease, a vascular anomaly mainly in the upper stomach, is a rare but potentially life-threatening cause of upper gastrointestinal bleeding. Pathogenesis is still controversial, but the most accepted theory is that a persistent caliber vessel in the submucosa is exposed by a small mucosal erosion leading to massive bleeding. The bleeding site is usually within 6 cm of the esophagogastric junction in the cardia or fundus of the stomach. The treatment of choice is therapeutic endoscopy or surgery. The age of patients reported is mainly between 50 and 70 years, and patients of pediatric age are extremely rare. We are reporting a 5-year-old male patient who had Dieulafoy's disease which was diagnosed by emergency upper gastrointestinal endoscopy. Endoscopic finding was a nodular lesion with an adherent clot on the lessor curvature of the stomach 2 cm below the esophagogastric junction. Epinephrine and Beriplast(R) was injected in the lesion. On the second day after endoscopic sclerotherapy, the patient had recurred massive hematemesis and accompanying shock. So we performed gastrotomy and ligation. After the operation, he showed an improved general condition and was discharged at the 12th hospital day.
Subject(s)
Child , Child, Preschool , Humans , Male , Cardia , Emergencies , Endoscopy , Endoscopy, Gastrointestinal , Epinephrine , Esophagogastric Junction , Hematemesis , Hemorrhage , Ligation , Sclerotherapy , Shock , StomachABSTRACT
Segmental necrotizing jejunitis is characterized by severe abdominal pain of acute onset, bilious vomitings and foul smelling loose stools containing blood. Pathologic features include circumferential intestinal wall inflammation ranging from edema with minimal congestion to severe congestion, hemorrhage with necrosis, ulceration, and gangrene with perforation. Early diagnosis and suitable supportive measures prevent unnecessary laparatomy and complications. There was no report of this disease entity in children in Korea. We experienced a case of segmental necrotizing jejunitis with fever, abdominal pain and bloody stools, which was diagnosed by exploration and was treated successfully by antibiotics and supportive measures.