Hardikar syndrome: A case requiring liver transplantation

Daniel Maluf, Robert A. Fisher, Ann S. Fulcher, Marc P. Posner

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

We report the case of a girl with Hardikar syndrome who underwent living-donor liver transplantation at 2 years of age. This disease, described in 1992, includes a constellation of abnormalities, such as cleft lip and palate, pigmentary retinopathy, and multiple tubular stenoses (e.g., bile ducts, ureters). Other system involvement is variable. Rotation anomalies of the gut and cardiac abnormalities are frequently present. Pathogenesis remains obscure. Our patient was delivered at 33 weeks of gestation by cesarean section, and was jaundiced, with low birth weight and height. On day 5 after birth, the patient underwent Ladd's surgery for intestinal malrotation. One month later, she developed pyelonephritis and urosepsis. She remained jaundiced and a liver biopsy revealed cirrhosis with regenerating nodules, portal chronic inflammation with bile duct proliferation, and lobular cholestasis. The patient underwent several corrective operations, and at 12 months of age she was diagnosed with Hardikar syndrome. She failed to thrive and had progressive cholestasis and jaundice, coagulation disorders, bilateral ureterostomies, repetitive urinary tract infections, bilateral cleft lip and palate, retinopathy, and gut malrotation. She received a liver transplant at 24 months of age from a living donor. She has had an excellent clinical outcome in liver function without further decline of growth and development.

Original languageEnglish (US)
Pages (from-to)1058-1061
Number of pages4
JournalTransplantation
Volume74
Issue number7
DOIs
StatePublished - Oct 15 2002
Externally publishedYes

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Jaundice
Liver Transplantation
Living Donors
Cleft Lip
Cholestasis
Cleft Palate
Bile Ducts
Liver
Ureterostomy
Retinitis Pigmentosa
Pyelonephritis
Low Birth Weight Infant
Ureter
Growth and Development
Urinary Tract Infections
Cesarean Section
Pathologic Constriction
Fibrosis
Parturition
Inflammation

All Science Journal Classification (ASJC) codes

  • Transplantation

Cite this

Hardikar syndrome : A case requiring liver transplantation. / Maluf, Daniel; Fisher, Robert A.; Fulcher, Ann S.; Posner, Marc P.

In: Transplantation, Vol. 74, No. 7, 15.10.2002, p. 1058-1061.

Research output: Contribution to journalArticle

Maluf, Daniel ; Fisher, Robert A. ; Fulcher, Ann S. ; Posner, Marc P. / Hardikar syndrome : A case requiring liver transplantation. In: Transplantation. 2002 ; Vol. 74, No. 7. pp. 1058-1061.
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