Familial cholestasis with gallstone, ataxia and visual disturbance.

Tazawa, Yusaku; Konno, Tasuke

doi:10.1620/tjem.137.137

Cited by 9 publications

(4 citation statements)

References 16 publications

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“…Indeed, cholelithiasis is a common complication of Byler's disease (7,16). In our patient, a black pigment stone was found in the common bile duct.…”

Section: Discussionmentioning

confidence: 99%

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Endoscopic Biliary Sphincterotomy and Stone Extraction in a Child with Choledocholithiasis Complicating Byler's Disease

Braegger,

Altorfer

1996

J. pediatr. gastroenterol. nutr.

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“…Indeed, cholelithiasis is a common complication of Byler's disease (7,16). In our patient, a black pigment stone was found in the common bile duct.…”

Section: Discussionmentioning

confidence: 99%

“…Vitamin D deficiency may lead to rickets, and neuropathy caused by vitamin E deficiency is common in patients who are not appropriately managed (13‐15). Other complications are cholelithiasis (7,16), pancreatitis (7), and hepatocellular carcinoma (7,17).…”

mentioning

confidence: 99%

Endoscopic Biliary Sphincterotomy and Stone Extraction in a Child with Choledocholithiasis Complicating Byler's Disease

Braegger,

Altorfer

1996

J. pediatr. gastroenterol. nutr.

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“…Patient 1 (N.S. ), a 14-year-old girl, had been reported previously (5). In brief, she was the second child of parents who were first cousins.…”

Section: Methodsmentioning

confidence: 99%

Familial Intrahepatic Cholestasis Associated with Progressive Neuromuscular Disease and Vitamin E Deficiency

Nakagawa,

Tazawa,

Kobayashi

et al. 1984

J. pediatr. gastroenterol. nutr.

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SummaryThree Japanese patients with familial progressive intrahepatic cholestasis developed complications involving neurologic abnormalities characterized by ataxia and pigmentary retinopathy. Serum vitamin E concentrations were extremely low in all patients, suggesting a long‐term vitamin E deficiency. High dose oral supplementation of a‐tocopherol produced normal serum vitamin E levels in two patients. Parenteral administration of vitamin E resulted in no clinical improvement in one patient who first received the treatment at 14 years of age. In the other two patients, the progression of neurological abnormalities was slowed by vitamin E supplementation. Cholestyramine treatment resulted in an apparent decrease in serum vitamin E levels despite oral atocopherol supplementation.

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“…The first detailed description of hereditary hepatocellular cholestasis involved the members of an Amish kindred, the members of which were all descended from Jacob Byler; the name Byler disease has been used to describe this syndrome (1). Since that initial report, several patients and families with disease that resembles that of affected members of the Byler family have been reported (2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18). Affected individuals have severe intrahepatic cholestasis, usually beginning in the first few months of life, with progression to cirrhosis almost always before the end of the second decade of life.…”

mentioning

confidence: 99%

Clinical and Biochemical Findings in Progressive Familial Intrahepatic Cholestasis

Whitington,

Freese,

Alonso

et al. 1994

J. pediatr. gastroenterol. nutr.

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SummaryThe clinical findings in 33 patients with progressive familial intrahepatic cholestasis (PFIC) are presented. Symptoms developed almost invariably before 6 months of age with severe pruritus and moderate jaundice. Other clinical findings included wheezing and nosebleeds, fat‐soluble vitamin deficiency states, and cholelithiasis. Lower values for γ‐glutamyl transpeptidase, averaging 15 IU/L before the administration of phenobarbital, and cholesterol, which averaged 156 mg/dl, are helpful in distinguishing PFIC from other pediatric cholestatic liver diseases. Autosomal recessive inheritance is probable. Twenty‐six patients are alive at 12.9 ± 6.7 years of age, all having had successful surgical treatment, either partial biliary diversion (n = 17) or orthotopic liver transplantation (n = 10). Seven patients died at a mean age of 3.9 ± 2.4 years, as a result of liver failure in two, hepatocellular carcinoma in two, and complications of liver transplantation in three.

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Familial cholestasis with gallstone, ataxia and visual disturbance.

Cited by 9 publications

References 16 publications

Endoscopic Biliary Sphincterotomy and Stone Extraction in a Child with Choledocholithiasis Complicating Byler's Disease

Endoscopic Biliary Sphincterotomy and Stone Extraction in a Child with Choledocholithiasis Complicating Byler's Disease

Familial Intrahepatic Cholestasis Associated with Progressive Neuromuscular Disease and Vitamin E Deficiency

Clinical and Biochemical Findings in Progressive Familial Intrahepatic Cholestasis

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