American Journal of Medical Case Reports
ISSN (Print): 2374-2151 ISSN (Online): 2374-216X Website: http://www.sciepub.com/journal/ajmcr Editor-in-chief: Samy, I. McFarlane
Open Access
Journal Browser
Go
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

Abstract

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.

Keywords:
Glucose-galactose malabsorption Oculocutaneous albinism child Saudi Arabia

Creative CommonsThis work is licensed under a Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/

References:

[1]  Abdullah AM, el-Mouzan MI, el Shiekh OK, al Mazyad A. Congenital glucose-galactose malabsorption in arab children. J Pediatr Gastroenterol Nutr 1996; 23(5): 561-564.
 
[2]  Raja M, Kinne RK. Structural insights into genetic variants of Na (+)/glucose cotransporter SGLT1 causing glucose-galactose malabsorption: vSGLT as a model structure. Cell Biochem Biophys 2012; 63(2): 151-158.
 
[3]  Xin B, Wang H. Multiple sequence variations in SLC5A1 gene are associated with glucose-galactose malabsorption in a large cohort of Old Order Amish. Clin Genet 2011; 79(1): 86-91.
 
[4]  Gracey M, Burke V. Sugar-induced diarrhea in children. Arch Dis Child 1973; 48(5): 331-336.
 
[5]  Laplane R, Polonovski C, Etiene M, Debray P, Lods JC, Pissarro B. L’intolerance aux sucres a transfert intestinal actif. Arch Fr Pediatr 1962; 19: 895-944.
 
[6]  Lindquist B, Meeuwisse GW. Chronic diarrhoea caused by monosaccharide malabsorption. Acta Paediatr 1962; 51: 674-685.
 
[7]  Mutlu M, Cakir M, Aslan Y. Glucose Galactose Malabsorption: A Case Report. HK J Paediatr 2010; 15: 320-323.
 
[8]  Chdane-Girault C, Dabadie A, Maurage C, Chailloux E, Colin E, Pelatan C, Giniès JL. Neonatal diarrhea due to congenital glucose-galactose malabsorption: report of seven cases. Arch Pediatr 2012; 19(12): 1289-1292.
 
[9]  Anderson S, Koniaris S, Xin B, Brooks SS. Congenital Glucose-Galactose Malabsorption: A Case Report. J Paediatr health Care 2017; 31(4): 506-510.
 
[10]  Abdullah AM, Abdullah MA, Abdurrahman MB, al Husain MA. Glucose-galactose malabsorption with renal stones in a Saudi child. Ann Trop Paediatr 1992; 12(3): 327-329.
 
[11]  Abdullah AM. Aetiology of chronic diarrhea in children: experience at King Khalid University Hospital, Riyadh, Saudi Arabia. Ann Trop Paediatr 1994; 14(2): 111-117.
 
[12]  Abdullah AM, el-Mouzan MI, el Shiekh OK, al Mazyad A. Congenital glucose-galactose malabsorption in Arab children. J Pediatr Gastroenterol Nutr 1996; 23(5): 561-564.
 
[13]  El-Naggar W, Balfe JW, Barbar M, Taha D. Nephrocalcinosis in glucose-galactose malabsorption, association with renal tubular acidosis. Pediatr Nephrol 2005; 20(9): 1336-1339.
 
[14]  Assiri A, Saeed A, Alnimri A, Ahmed S, Saeed E, Jameel S. Five Arab children with glucose-galactose malabsorption. Paediatr Int Child Health 2013; 33(2): 108-110.
 
[15]  Ghazali B, Almedhesh SA, Alsuheel AM, Batti D, Shati AA. Congenital glucose-galactose malabsorption: A rare cause of chronic diarrhea. Int J Med Med Sci 2014; 6(2): 59-62.
 
[16]  Saadah OI, Alghamdi SA, Sindi HH, Alhunaitti H, Bin-Taleb YY, Alhussaini BH. Congenital glucose-galactose malabsorption: A descriptive study of clinical characteristics and outcome from Western Saudi Arabia. Arab J. Gastroenterol. 2014; 15(1): 21-23.
 
[17]  Al-Baradie RS, Chaudhary MW, Burshaid D, Mir A. Unusual Case of Glucose-Galactose Malabsorption with Infantile Neuroaxonal Dystrophy. Austin J Clin Neurol 2016; 3(2): 1093.
 
[18]  Berni Canani R, Pezzella V, Amoroso A, et al. Diagnosing and Treating Intolerance to Carbohydrates in Children. Nutrients 2016; 8(3): 157.
 
[19]  Steinherz R, Nitzan M, Iancu TC. Hypernatremic dehydration as a sign leading to the diagnosis of glucose-galactose malabsorption in breast-fed neonates. Helv Paediatr Acta 1984; 39(3): 275-277.
 
[20]  Lee WS, Tay CG, Nazrul N, Paed M, Chai PF. A Case of Neonatal Diarrhoea Caused by Congenital Glucose-galactose Malabsorption. Med. J. Malaysia 2009; 64(1): 83-85.
 
[21]  Vallaeys L, Van Biervliet S, De Bruyn G, Loeys B, Moring AS, Van Deynse E, Cornette L. Congenital glucose-galactose malabsorption: a novel deletion within the SLC5A1 gene. Eur J Pediatr 2013; 172(3): 409-411.
 
[22]  Grønskov K, Ek J, Brondum-Nielsen K. Oculocutaneous albinism. Orphanet J Rare Dis 2007; 2: 43.
 
[23]  Kamaraj B, Purohit R. Mutational analysis of oculocutaneous albinism: a compact review. Biomed Res Int. 2014; 2014: 905472.
 
[24]  Khanal S, Pokharel A, Kandel H. Visual deficits in Nepalese patients with oculocutaneous albinism. J Optom. 2016 Apr-Jun; 9(2): 102-109.
 
[25]  Seward SL Jr, Gahl WA. Hermansky-Pudlak syndrome: health care throughout life. Pediatrics 2013; 132(1): 153-160.