Lee ACW, Poon KH, Lo WH, Wong LG. Chronic ulcerative gastroduodenitis as a first gastrointestinal manifestation of Hermansky-Pudlak syndrome in a 10-year-old child. World J Gastroenterol 2008; 14(18): 2939-2941 [PMID: 18473428 DOI: 10.3748/wjg.14.2939]
Corresponding Author of This Article
Dr. Anselm Chi-Wai Lee, Children’s Hematology & Cancer Centre, East Shore Medical Centre #05-01, 319 Joo Chiat Place, 427989, Singapore. aclee@graduate.hku.hk
Article-Type of This Article
Case Report
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World J Gastroenterol. May 14, 2008; 14(18): 2939-2941 Published online May 14, 2008. doi: 10.3748/wjg.14.2939
Chronic ulcerative gastroduodenitis as a first gastrointestinal manifestation of Hermansky-Pudlak syndrome in a 10-year-old child
Anselm Chi-Wai Lee, Kin-Hung Poon, Wing-Hong Lo, Lap-Gate Wong
Anselm Chi-Wai Lee, Kin-Hung Poon, Department of Pediatrics & Adolescent Medicine, Tuen Mun Hospital, New Territories, Hong Kong 999077, China
Wing-Hong Lo, Lap-Gate Wong, Department of Clinical Pathology, Tuen Mun Hospital, New Territories, Hong Kong 999077, China
Author contributions: Lee ACW conceptualized the report and wrote the paper; Poon KH, Lo WH and Wong LG prepared the illustrations and wrote the paper.
Correspondence to: Dr. Anselm Chi-Wai Lee, Children’s Hematology & Cancer Centre, East Shore Medical Centre #05-01, 319 Joo Chiat Place, 427989, Singapore. aclee@graduate.hku.hk
Telephone: +65-63408610
Fax: +65-63440117
Received: January 4, 2008 Revised: March 8, 2008 Published online: May 14, 2008
Abstract
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.
