A New Case of Congenital Malabsorptive Diarrhea and Diabetes Secondary to Mutant Neurogenin-3

Congenital diarrheal disorders are a group of rare enteropathies that often present with life-threatening diarrhea in the first weeks of life. Enteric anendocrinosis, characterized by a lack of intestinal enteroendocrine cells due to recessively inherited mutations in the ( ) gene, has been describe...

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Bibliographic Details
Published in:Pediatrics (Evanston) 2017-08, Vol.140 (2)
Main Authors: German-Diaz, Marta, Rodriguez-Gil, Yolanda, Cruz-Rojo, Jaime, Charbit-Henrion, Fabienne, Cerf-Bensussan, Nadine, Manzanares, Javier Manzanares-Lopez, Moreno-Villares, Jose Manuel
Format: Article
Language:English
Subjects:
Adolescent
Basic Helix-Loop-Helix Transcription Factors - genetics
Case reports
Case studies
Causes of
Congenital diseases
Diabetes
Diabetes mellitus
Diabetes Mellitus, Type 1 - drug therapy
Diabetes Mellitus, Type 1 - genetics
Diarrhea
Diarrhea, Infantile - congenital
Diarrhea, Infantile - genetics
Diarrhea, Infantile - pathology
Diarrhea, Infantile - therapy
Genes, Recessive
Health aspects
Humans
Hypoglycemic Agents - therapeutic use
Infant, Newborn
Insulin - therapeutic use
Intestine
Malabsorption Syndromes - congenital
Malabsorption Syndromes - genetics
Malabsorption Syndromes - pathology
Male
Males
Mutation
Nerve Tissue Proteins - genetics
Neurogenins
Parenteral feeding
Parenteral nutrition
Parenteral Nutrition, Home
Parenteral therapy
Pediatrics
Proteins
Rare diseases
Risk factors
Teenagers
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Summary:Congenital diarrheal disorders are a group of rare enteropathies that often present with life-threatening diarrhea in the first weeks of life. Enteric anendocrinosis, characterized by a lack of intestinal enteroendocrine cells due to recessively inherited mutations in the ( ) gene, has been described as a cause of congenital malabsorptive diarrhea. Diabetes mellitus also is typically associated with mutations, be it early onset or a later presentation. Here we report a case of a 16-year-old male patient with severe malabsorptive diarrhea from birth, who was parenteral nutrition dependent and who developed diabetes mellitus at 11 years old. To the best of our knowledge, only 9 cases of recessively inherited mutations have been reported in the literature to date. Our patient presents with several remarkable differences compared with previously published cases. This report can contribute by deepening our knowledge on new aspects of such an extremely rare disease.
ISSN:0031-4005
1098-4275
DOI:10.1542/peds.2016-2210