An infant with trichohepato-enteric syndrome: case report

Mayssan Yousef Salman; Sirin Mneimneh; Mariam Rajab

doi:10.18203/2349-3291.ijcp20163698

Authors

Mayssan Yousef Salman Department of Pediatrics, Makassed General Hospital, Beirut
Sirin Mneimneh Department of Pediatrics, Beirut Arab University, Beirut
Mariam Rajab Department of Pediatrics, Makassed General Hospital, Beirut

DOI:

https://doi.org/10.18203/2349-3291.ijcp20163698

Keywords:

Intractable diarrhea, Infant, THE-S

Abstract

Trichohepato-enteric syndrome (THE-S) is a disease characterized by severe infantile diarrhea, failure to thrive, facial dysmorphism, woolly hair, and immune or hepatic dysfunction. We report the case of a boy who presented in early infancy with chronic watery diarrhea, dependent on total parenteral nutrition, along with other features of THE-S.

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References

Hartley JL, Zachos NC, Dawood B, Donowitz M, Forman J, Pollitt RJ, et al. Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy). Gastroenterology. 2010;138:2388-98.

Fabre A, Vinson MC, Roquelaure B, Missirian C, André N, Breton A, et al. Novel mutations in TTC37 associated with tricho-hepatoenteric syndrome. Hum Mutat. 2011;32:277-81.

Fabre A, Charroux B, Vinson MC, Roquelaure B, Odul E, Sayar E, et al. SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome. Am J Hum Genet. 2012;90:689-92.

Canani BR, Terrin G, Cardillo G, Tomaiuolo R, Castaldo G. Congenital diarrheal disorders: improved understanding of gene defects is leading to advances in intestinal physiology and clinical management. J Pediatr Gastroenterol Nutr. 2010;50:360-6.

Stankler L, Lloyd D, Pollitt RJ, Gray ES, Thom H, Russell G. Unexplained diarrhoea and failure to thrive in 2 siblings with unusual facies and abnormal scalp hair shafts: a new syndrome. Arch Dis Child. 1982;57:212-6.

Girault D, Goulet O, Deist LF, Brousse N, Colomb V, Césarini JP, et al. Intractable infant diarrhea associated with phenotypic abnormalities and immunodeficiency. J Pediatr. 125:36-42.

Verloes A, Lombet J, Lambert Y, Hubert AF, Deprez M, Fridman V, et al. Trichohepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractablediarrhea, and hair anomalies. Am J Med Genet. 1997;68:391-5.

Vries DE, Visser DM, Dongen JJ, Jacobs CJ, Hoekstra JH, Tol MJ. Oligoclonalgammopathy in phenotypic diarrhea. J Pediatr Gastroenterol Nutr. 2000;30:349-50.

Landers MC, Schroeder TL. Intractable diarrhea of infancy with facial dysmorphism, trichorrhe xisnodosa, and cirrhosis. Pediatr Dermatol. 2003;20:432-5.

Barabino AV, Torrente F, Castellano E, Erba D, Calvi A, Gandullia P. Syndromic diarrhea may have better outcome than previously reported. J Pediatr. 2004;144:553-4.

Dweikat I, Sultan M, Maraqa N, Hindi T, Rmeileh AS, Libdeh B. Trichohepato-enteric syndrome: a case of hemochromatosis with intractable diarrhea, dysmorphic features, and hair abnormality. Am J Med Genet. 2007;143:581-3.

Egritas O, Dalgic B, Onder M. Trichohepato-enteric syndrome presenting with mild colitis. Eur J Pediatr. 2009;168:933-5.

Bozzetti V, Bovo G, Vanzati A, Roggero P, Tagliabue P. A new genetic mutation in a patient with syndromic diarrhea and hepatoblastoma. J Pediatr Gastroenterol Nutr. 2013;57(3):1-15.

Goulet O, Vinson C, Roquelaure B, Brousse N, Bodemer C, Cezard JP. Syndromic (phenotypic) diarrhea in early infancy. Orphanet J Rare Dis. 2008;3:6.