Children with Microvillus Inclusion Disease in Oman

Microscopic villus inclusion disease (MVID) is a highly uncommon autosomal recessive disorder that causes severe congenital diarrhea and high morbidity and death rates in infants. Difficulty in diagnosis is compounded by the fact that only a few numbers of genetic panels can detect the most frequent mutations. We describe a series of cases, including three infants with MVID caused by an STX3 mutation. We report the serial case of three Omani children diagnosed with MIVD. Parents were first-degree consanguinity. The first and second cases were sisters. The third case was their cousin. They were Total parenteral nutrition (TPN) dependent, with frequent hospital admissions due to central lines infection and other complications. The second case passed away during our study due to septic shock at ten months of life. On the other hand, her sister (case one) is free from TPN, studying in school with good quality of life, despite her diagnosis of plastic bronchitis due to elevated central pressure secondary to stenotic/chronic thrombosis of the central venous system. The third case was a male, their cousin. He is TPN dependent 22 hours/day, with monthly repeated admissions due to dehydration and electrolyte imbalance due to his condition. Moreover, he has visual impairment due to primary retinopathy with maculopathy. In conclusion, the Sultanate of Oman needs to consider highly specialized pediatric gastroenterology centers to care for the affected cases of MIVD and other disorders. Additionally, genetic counselling is currently limited to only two centers in Oman. It needs to be implemented all over the areas of Oman because observations that the incidence of MVID is higher in families with a pre-existing case of MVID and that there is a high rate of consanguinity in parents of children with MVID indicate a genetic basis for this disorder, which is probably inherited on an autosomal recessive basis.