Tricho-hepato-enteric syndrome: Further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies

American Journal of Medical Genetics

Volumn 68, Issue 4, 1997, Pages 391-395

  Verloes, Alain ^a,d   Lombet, Jacques ^a   Lambert, Yves ^a   Hubert, Anne Frédérique ^c   Deprez, Manuel ^b   Fridman, Viviana ^b   Gosseye, Serge ^c   Rigo, Jacques ^a   Sokal, Etienne ^c  

^a UNIVERSITY OF LIÈGE   (Belgium)

^b UNIVERSITY OF LIÈGE   (Belgium)

^c UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

^d CHU SART TILMAN   (Belgium)

Author keywords

hair anomaly; intractable diarrhea; iron storage disease; neonatal hemochromatosis; recessive inheritance

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; FATALITY; FEMALE; HAIR DISEASE; HEMOCHROMATOSIS; HEMOSIDEROSIS; HEPATOMEGALY; HUMAN; HYDRAMNIOS; HYPERTELORISM; INFANT; INFANTILE DIARRHEA; INTRAUTERINE GROWTH RETARDATION; LIVER FAILURE; LIVER FIBROSIS; OBSTRUCTIVE JAUNDICE; PRIORITY JOURNAL; SIBLING; TRICHOHEPATOENTERIC SYNDROME;

AMINO ACID METABOLISM, INBORN ERRORS; DIARRHEA; FACE; FEMALE; HAIR; HEMOCHROMATOSIS; HUMANS; INFANT; INFANT, NEWBORN; LIVER; LUNG; MALE; METHIONINE; PREGNANCY; SYNDROME;

EID: 0031017335     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970211)68:4<391::AID-AJMG3>3.0.CO;2-P     Document Type: Article

References (30)

1. Barnard JA, III, Manci E (1991): Idiopathic neonatal iron storage disease. Gastroenterology 101:1420-1427.
2. Becich MJ, Rothbaum RJ, Keating JP (1991): Non-siderosome associated iron in patients with neonatal iron storage disease: A computer-assisted quantitative morphometric evaluation. Lab Invest 64:107A.
3. Castillo Taucher S, Bentjerodt R, Huebner ME, Nazer J (1994): Multiple malformations in neonatal hemochromatosis. Am J Med Genet 50:213-214.
4. Colletti RB, Clemmons JJW (1988): Familial neonatal hemochromatosis with survival. J Pediatr Gastroenterol Nutr 7:39-45.
5. Cottier H (1957): Ueber ein der Hämochromatose vergleichbares Krankheitsbild bei Neugeborenen. Schweiz Med Wochenschr 37: 39-43.
6. Dalhoj J, Kiaer H, Wiggers P, Grady RW, Jones RL, Knisely AS (1990): Iron storage disease in parents and sibs of infants with neonatal hemochromatosis: 30 year follow-up. Am J Med Genet 37:342-345.
7. de Boissieu D, Checoury A, Barbet P, Francoual C, Rochiccioli F, Badoual J (1990): Hémochromatose périnatale. Arch Fr Pédiatr 47:23-28.
8. Dible JH, Hunt WE, Pugh VW, Steingold L, Wood JHF (1954): Foetal and neonatal hepatitis and its sequelae. J Pathol Bact 67:195-206.
9. Driscoll SC, Hayes AM, Levy HL (1988): Neonatal hemochromatosis: evidence for autosomal recessive transmission. Am J Hum Genet 43:A232
10. Ehrlich JC, Ratner IM (1955): Congenital cirrhosis of the liver with kernicterus. Report of two cases in siblings with a discussion of the so-called neonatal hepatitis to iso-immunization disease. Am J Pathol 31:1013-1047.
11. Fienberg R (1960): Perinatal idiopathic hemochromatosis: Giant cell hepatitis interpreted as an inborn error of metabolism. Clin Pathol 33:480-491.
12. Girault D, Goulet O, Le Deist F, Brousse N, Colomb V, Cesarini JP, de Potter S, Canioni D, Griscelli C, Fischer A, Ricour C (1994): Intractable infant diarrhea associated with phenotypic abnormalities and immunodeficiancy. J Pediatr 125:36-42.
13. Hayes AM, Jaramillo D, Levy HL, Knisely AS (1992): Neonatal hemochromatosis: diagnosis with MR imaging. Am J Roentgen 159:623-625.
14. Hoogstraeten J, de Sa DJ, Knisely AS (1990): Fetal liver disease may precede extrahepatic siderosis in neonatal hemochromatosis. Gastroenterology 98:1699-1701.
15. Jacknow G, Johnson D, Freese D, Smith C, Burke B (1983): Idiopathic neonatal iron storage disease. Lab Invest 48:7P.
16. Jonas MM, Kaweblum YA, Fojaco R (1987): Neonatal hemochromatosis: Failure of desferoxiamine therapy. J Pediatr Gastroenterol Nutr 6:984-988.
17. Knisely AS, Magid MS, Dische MR, Cutz E (1987): Neonatal hemochromatosis. New York: Alan R. Liss, Inc., for the National Foundation-March of Dimes. BD:OAS XXIII (1):75-102.
18. Knisely AS, Grady RW, Kramer EE, Jones RL (1989a): Cytoferrin, maternofetal iron transport, and neonatal hemochromatosis. Am J Clin Pathol 92:755-759.
19. Knisely AS, Harford JB, Klausner RB, Taylor SR (1989b): Neonatal hemochromatosis: The regulation of transferrin receptor and ferritin synthesis by iron in cultured fibroblastic-line cells. Am J Pathol 134:439-445.
20. Knisely AS (1992): Neonatal hemochromatosis. Adv Pediatr 39: 383-404.
21. Laurendeau T, Hill JE, Manning GB (1961): Idiopathic neonatal hemochromatosis in siblings: An inborn error of metabolism. Arch Pathol 72:410-423.
22. Lee RG (1994): "Diagnostic Liver Pathology." New York: Mosby, pp 247-248.
23. Perry TL, Hardwick DF, Dixon GH, Dolman CL, Hansen S (1965): Hypermethioninemia: A metabolic disorder associated with cirrhosis, islet cell hyperplasia, and renal tubular degeneration. Pediatrics 36:236-250.
24. Rand EB, McClenathan DT, Whitington PF (1992): Neonatal hemochromatosis: Report of a successful orthotopic liver transplantation. J Pediatr Gastroenterol Nutr 15:325-329.
25. Searle J, Kerr JFR, Halliday JW, Powell LW (1994): Iron storage disorder. In McSween R, Anthony P, Scheuer P, Burt A, Portman B (eds) "Pathology of the Liver." Edinburgh: Churchill-Livingstone, pp 234-235.
26. Silver MM, Beverley DW, Valberg LS, Cutz E, Phillips MJ, Shaheed WA (1987): Perinatal hemochromatosis: Clinical, morphologic, and quantitative iron studies. Am J Pathol 128:538-554.
27. Silver MM, Cave CT, Kipalani H (1989): Perinatal hemochromatosis. Pediatr Pathol 9:203-210.
28. Stankler L, Lloyd D, Pollitt RJ, Gray ES, Thorn H, Russell G (1982): Unexplained diarrhoea and failure to thrive in two siblings with unusual facies and abnormal scalp hair shafts: A new syndrome. Am J Dis Child 57:212-216.
29. Verloes A, Temple IK, Hubert AF, Hope P, Gould S, Debauche C, Verellen G, Deville JL, Koulischer L, Sokal EM (1996): Neonatal hemochromatosis in half-sibs born from unaffected mothers. J Med Genet 33:444-449.
30. Witzleben CL, Uri A (1989): Perinatal hemochromatosis: Entity or end-result? Hum Pathol 20:335-340.