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 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.
Lee
Anselm-Chi-Wai
AC
Children's Hematology & Cancer Centre, East Shore Medical Centre #05-01, 319 Joo Chiat Place, 427989, Singapore. aclee@graduate.hku.hk
Poon
Kin-Hung
KH
Lo
Wing-Hong
WH
Wong
Lap-Gate
LG
D016115:Albinism, Oculocutaneous / Q000175:diagnosis / Q000473:pathology; D002648:Child; D003937:Diagnosis, Differential; D004381:Duodenal Ulcer / Q000175:diagnosis* / Q000209:etiology; D005759:Gastroenteritis / Q000175:diagnosis* / Q000209:etiology; D022861:Hermanski-Pudlak Syndrome / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D008297:Male