• Title, Summary, Keyword: Arthrogryposis

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Two Cases of ARC (Arthrogryposis, renal dysfunction and cholestasis) Syndrome (ARC (Arthrogryposis, renal dysfunction and cholestasis) 증후군 2례)

  • Hong, Ja-Hyeon;Lee, Chang-Han;Chung, Ki-Sup
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.3 no.1
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    • pp.110-115
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    • 2000
  • ARC (arthrogryposis multiplex congenita, renal dysfunction and cholestasis) syndrome was first described by Lutz-Richner and Landolt in 1973 and after then similar cases were scarcely reported worldwide. There's no reported case in Korea. It was first suggested that ARC syndrome was inherited by X-linked recessive trait but now it was thought to be inherited by autosomal recessive trait also. Most parents were consanguineous but some unconsanuineous parents were also reported. We report on 1 male and 1 female infant who had ARC syndrome from 2 unrelated families. They were born from unconsanguineous parents.

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Outbreaks of Akabane Diseasc of Cattle in Korea (한국(韓國)에서의 소의 Akabane병(病)의 발생(發生))

  • Bak, Ung-Bok;Lim, Chang Hyeong;Cheong, Chang Kook;Hwang, Woo Suk;Cho, Myung Rae
    • Korean Journal of Veterinary Research
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    • v.20 no.1
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    • pp.65-78
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    • 1980
  • From November 1978 to April 1979, there occurred among cows many cases of abortion, premature birth, stillbirth and congenital arthrogryposis or hydranencephaly in Kyongki-do province in Korea. Epizootics recurred between February and May, 1980 in the same area. Six calves born at 8 or 10 months of gestation were examined by means of pathology and one of the calves was examined by serological test. And a survey on local occurrence of the disease in other than Kyongki-do province, was conducted. 1. At necropsy, some calves showed distinct lesions such deformities of the limbs and the vertebrae as arthrogryposis or scoliosis. Other calves revealed arthrogryposis and partial or total deficience of the cerebral hemispheres with hydranencephaly. 2. In the calves with deformities the skeletal muscle showed histologically severe hypoplasia of the muscle fibers with cellular infiltration. In the central nervous system of the calves with hydranencephaly there were minute cystic cavitation and the decrease of ventral horn cells of the spinal cord in the number. 3. Similar epizootics were also observed in the same season in the other several provinces such as Chungoheongnam-do, Kangwon-do and Jeonrabuk-do. 4. Anti-Akabane virus antibody was detected in precolostral blood from the calf with arthroglposis and hydranencephaly syndrome. 5. On these findings of the disease it was diagnosed as Akabane disease presenting the first report on the epizootics in Korea.

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A Novel VPS33B Variant Identified by Exome Sequencing in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome

  • Lee, Min Ju;Suh, Chae Ri;Shin, Jeong Hee;Lee, Jee Hyun;Lee, Yoon;Eun, Baik-Lin;Yoo, Kee Hwan;Shim, Jung Ok
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.22 no.6
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    • pp.581-587
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    • 2019
  • Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare autosomal recessive multisystemic disease that is associated with the liver, kidney, skin, and central nervous and musculoskeletal systems. ARC occurs as a result of mutations in the VPS33B (Vacuolar protein sorting 33 homolog B) or VIPAR (VPS33B interacting protein, apical-basolateral polarity regulator) genes. A female infant presented with neonatal cholestasis with a severe clinical outcome. She was diagnosed with ARC syndrome using targeted exome sequencing (TES). Exome sequencing revealed compound heterozygous mutations, c.707A>T and c.239+5G>A, in VPS33B, where c.707A>T was a novel variant; the resultant functional protein defects were predicted via in silico analysis. c.239+5G>A, a pathogenic mutation that affects splicing, is found in less than 0.1% of the general population. Invasive techniques, such as liver biopsies, did not contribute to a differential diagnosis of ARC syndrome; thus, early TES together with clinical presentations constituted an apparently accurate diagnostic procedure.

Clinical Characteristics of Arthrogryposis, Renal Tubular Dysfunction, Cholestasis(ARC) Syndrome in Korea (ARC(Arthrogryposis, Renal Tubular Dysfunction, Cholestasis) 증후군의 발병양상에 관한 연구)

  • Lee Soon Min;Kim Ji Hong;Lee Jae Seung;Han Suk Joo
    • Childhood Kidney Diseases
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    • v.9 no.2
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    • pp.222-230
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    • 2005
  • 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 ARE 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 venal function in cases of congenital arthrogryposis, and a mandatory genetic counseling of affected family for prevention of familial occurance. (J Korean Soc Pediatr Nephrol 2005;9:222-230)

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A Case of ARCI Syndrome with Hypoplasia of Corpus Callosum and Heart Anomaly (뇌교량 형성 부전 및 심기형을 동반한 ARCI 증후군 1례)

  • Kim, Eo-Jin;Yoon, Young-Ran;Lee, Min-Hae;Kang, Ki-Su;Lim, Jae-Young;Choi, Myoung-Bum;Park, Chan-Hoo;Woo, Hyang-Ok;Youn, Hee-Shang
    • Clinical and Experimental Pediatrics
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    • v.46 no.8
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    • pp.826-830
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    • 2003
  • ARCI syndrome consists of arthrogryposis, renal tubular acidosis, cholestatic jaundice and icthyosis. We experienced an ARCI syndrome case with corpus callosum hypoplasia and atrial septal defect. This case had oral feeding difficulty, multiple joint contracture, renal tubular acidosis and neurogenic muscular atrophy at neonatal period. At two months of age, icthyosis and cholestatic jaundice were diagnosed. The case was hospitalized due to pneumonia at four months of age. Corpus callosum hypoplasia and atrial septal defect were detected. The case was treated with a mechanical ventilator because pneumonia was aggravated and respiratory failure occurred. The patient expired at five months of age.

Epizootiologic Studies on Akabane virus infections of Cattles in Kyungbuk (경북지방 소 Akabane병 발생과 중화항체가 분포조사)

  • 오강희;박노찬;권현일;김이준;박덕상
    • Korean Journal of Veterinary Service
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    • v.14 no.1
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    • pp.19-26
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    • 1991
  • A considerably high rate of abnormal deliveries of unknown etiology was observed among dairy cattles from November 1988 to February 1989 and Korean native tattles from January to April 1990. The abnormal deliveries consisted of abortions, stillbirths and calf deformities refers to as congenital arthrogryposis hydranencephaly (AH )syndrome. In order to know the level of Akabane antibody of dairy cattle raised in Kyungbuk province, serum neutralization test was conducted with Akabane virus(OBE-1 strain) and HmLu(Hamster lung) cell line. The results were summarized as follows. 1. During 4 months(Nov. 1988-Feb. 1989), abortion (3 heads), stillbirth(1 head) and congenital abnormalities(13 heads) of newborn were occurred in 17 dairy cattles raised in Kyungbuk province. 2. During 4 months(Jan.-Apr.1990), stillbirth(2 heads) and congenital deformities (13 heads) of newborn were occurred in 15 Korean native tattles raised in Kyungbuk province. 3. In Fev, and Apr. 1990, 1,005 dairy cattles at 99 farms were investigated on the actual condition of possessing Akabane antibody. The result was that 1,000 heads (99.9%) in 1,005 dairy cattles reacted as positive condition in Akahane antibody. The antibody titer was from 4 to over 256. 4. 189 heads (18.8%) of 1,005 dairy cattles werw below antibody titer 8 and 816 heads (81.2%) were over 16. 5. Akabane antibody titer of east coast legions(Pohang Yeongil etc) was all over 16, that of internal legions (Yeongiu, Andong. etc) was relatively low, The result suggest that the vaccination for Akabane disease will be unnecessary for the time being because of possessing higher antibody titer reaction except the newly introduced cattle and Akabane virus was widely disseminated in kyungbuk province during the summer months in 1987 or 1988.

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A Case of Stickler Syndrome Type I Caused by a Novel Variant of COL2A1 Gene (COL2A1 유전자의 새로운 돌연변이에 의한 제 1형 Stickler 증후군으로 진단된 1례)

  • Lee, Jin;Jung, Chang-Woo;Kim, Gu-Hwan;Lee, Beom-Hee;Choi, Jin-Ho;Yoo, Han-Wook
    • Journal of Genetic Medicine
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    • v.8 no.2
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    • pp.125-129
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    • 2011
  • Stickler syndrome is a very rare connective tissue disorder. The authors of the present study describe an 11-month-old girl with high myopia, retinal abnormalities, flat nose, cleft palate, retrognathia, micrognathia, short stature and arthrogryposis. Radiological evaluation also showed irregularity of the epiphysis of the femur and tibia and spondyloepiphyseal dysplasia. Genetic analysis using a peripheral blood sample revealed a novel variant c.787G>A (p.Gly246Asp) mutation of the COL2A1 gene. This is the first Korean case with Stickler syndrome confirmed by genetic testing.

Fetal bladder outlet obstruction in a stillborn bovine fetus

  • Jeong, Won-Il;Lee, Cha-Soo;Chung, Jae-Yong;Jeong, Da-Hee;Do, Sun-Hee;Noh, Dong-Hyung;Oh, Won-Seok;Jeong, Kyu-Shik
    • Proceedings of the Korean Society of Veterinary Pathology Conference
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    • pp.134-134
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    • 2002
  • A stillborn bovine male fetus with abdominal distention, arthrogryposis and atresia ani was presented for diagnostic evaluation. At necropsy, this fetus had a large amount of ascites, urachal obstruction and marked bladder distention. The ventral surface of the bladder had ruptured and attached to the abdominal wall by fibrinous adhesions. There was bilateral hydronephrosis with moderate pelvic dilatation and cortical attenuation. The rectum was filled with meconium but the anus was imperforate. The right forelimb was contracted. The cause(s) of these abnormalities could not be determined; however, we believe that developmental abnormalities during embryogenesis may be the result of chromosomal abnormalities. This report is the first to report congenital urachal obstruction in this species.

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A Study on the Akabane disease antibody in Chung Buk-Do (충청북도 북부지방의 소 Akabane병 중화항체가 분포조사)

  • 최해연;정운선
    • Korean Journal of Veterinary Service
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    • v.14 no.2
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    • pp.154-158
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    • 1991
  • To investigate the Akabane antibody in the cattle with the serological test in Chung Chung Buk Do from May to Nov 1191. The result are summarized as follows. 1. Breed in cattle reacted as positive condition in Akabane antibody 76 heads(42%) in 180 cattles reacted as positive condition in Akabane antibody, 23 heads(51%) in 45 Korea native cattle reacted as positive condition in Akabane antibody. 2. During 5, 9, 10, 11 month, Akabane antibody in cattle is over 45%. 3. Less of 2 years old and over 4 years old cattle are Akabane antibody in cattle is over 40%. 4. The relation of titer of 2 folds of dilution HA and 10 folds of dilution TCID$_{50}$ was same relation.n.

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The etiologies of neonatal cholestasis (신생아 담즙정체의 원인질환)

  • Ko, Jae Sung;Seo, Jeong Kee
    • Clinical and Experimental Pediatrics
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    • v.50 no.9
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    • pp.835-840
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    • 2007
  • Any infant noted to be jaundiced at 2 weeks of age should be evaluated for cholestasis with measurement of total and direct serum bilirubin. With the insight into the clinical phenotype and the genotype-phenotype correlations, it is now possible to evaluate more precisely the neonate who presents with conjugated hyperbilirubinemia. Testing should be performed for the specific treatable causes of neonatal cholestasis, specifically sepsis, galactosemia, tyrosinemia, citrin deficiency and endocrine disorders. Biliary atresia must be excluded. Low levels of serum gamma-glutamyl transferase in the presence of cholestasis should suggest progressive familial intrahepatic cholestasis type 1, 2, or arthrogryposis- renal dysfunction-cholestasis syndrome. If the serum bile acid level is low, a bile acid synthetic defect should be considered. Molecular genetic testing and molecular-based diagnostic strategies are in evolution.