Hossain Ibrahim Ageel^1,, Ghadah Mtaen Gosadi¹, Adeeb Ali Ageel¹

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