American Journal of Medical Case Reports
ISSN (Print): 2374-2151 ISSN (Online): 2374-216X Website: Editor-in-chief: Samy, I. McFarlane
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American Journal of Medical Case Reports. 2017, 5(6), 171-173
DOI: 10.12691/ajmcr-5-6-10
Open AccessCase Report

Unusual Case of Glucose-Galactose Malabsorption with Oculocutaneous Albinism

Hossain Ibrahim Ageel1, , Ghadah Mtaen Gosadi1 and Adeeb Ali Ageel1

1Department of Pediatrics, King Fahd Central Hospital, Jazan, Saudi Arabia

Pub. Date: July 15, 2017

Cite this paper:
Hossain Ibrahim Ageel, Ghadah Mtaen Gosadi and Adeeb Ali Ageel. Unusual Case of Glucose-Galactose Malabsorption with Oculocutaneous Albinism. American Journal of Medical Case Reports. 2017; 5(6):171-173. doi: 10.12691/ajmcr-5-6-10


Congenital Glucose-Galactose Malabsorption (GGM) is a rare inherited disease due to defects in the sodium-glucose cotransporter (SGLT1). It carries high morbidity and mortality if not recognized and treated early. Patients with GGM usually present with severe, life-threatening diarrhea and dehydration from neonatal period. The only treatment is to eliminate the glucose and galactose from the diet. Association of GGM with another inherited disease is unusual and rarely described in the literature. Here, we report a Saudi boy presented at one month of age with a history of chronic watery diarrhea since birth complicated with hypernatremic dehydration, and eventually, we diagnosed him as GGM. He has hypopigmented skin, hair, and eyes with bilateral nystagmus consistent with oculocutaneous albinism (OCA). As far as we know this is the first reported case worldwide of having both GGM and OCA in the same patient. It alerts the pediatricians to this association during their approach for these cases.

Glucose-galactose malabsorption Oculocutaneous albinism child Saudi Arabia

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