Chronic ulcerative gastroduodenitis as a first gastrointestinal manifestation of Hermansky-Pudlak syndrome in a 10-year-old child

A 10-year-old Chinese boy who had a history of congenital thrombocytopathy presented with severe iron deficiency anemia secondary to chronic gastric inflammation and duodenal ulcerations. Subtle oculocutaneous albinism led to the finding of diminished dense bodies in the platelets under electron mic...

Full description

Saved in:
Bibliographic Details
Published in:World journal of gastroenterology : WJG 2008-05, Vol.14 (18), p.2939-2941
Main Authors: Lee, Anselm-Chi-Wai, Poon, Kin-Hung, Lo, Wing-Hong, Wong, Lap-Gate
Format: Article
Language:English
Subjects:
Albinism, Oculocutaneous - diagnosis
Albinism, Oculocutaneous - pathology
Case Report
Child
Diagnosis, Differential
Duodenal Ulcer - diagnosis
Duodenal Ulcer - etiology
Gastroenteritis - diagnosis
Gastroenteritis - etiology
Hermanski-Pudlak Syndrome - complications
Hermanski-Pudlak Syndrome - diagnosis
Hermanski-Pudlak Syndrome - pathology
Humans
Male
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:A 10-year-old Chinese boy who had a history of congenital thrombocytopathy presented with severe iron deficiency anemia secondary to chronic gastric inflammation and duodenal ulcerations. Subtle oculocutaneous albinism led to the finding of diminished dense bodies in the platelets under electron microscopy, hence the diagnosis of Hermansky-Pudlak syndrome (HPS). Biopsies from the stomach and duodenum revealed a lymphocytic infiltration in the submucosa, but H pylori infection was absent. The gastroduodenitis responded to the treatment with omeprazole while iron deficiency anemia was corrected by oral iron therapy. HPS is a rare cause of congenital bleeding disorder with multisystemic manifestations. Upper gastrointestinal involvement is rare and should be distinguished from a mere manifestation of the bleeding diathesis.
ISSN:1007-9327
DOI:10.3748/wjg.14.2939