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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Bhat, Venkatraman Rahman, Sajjad Ismail, Adel Ali, Yasser Ali Hussein Al Thani, Sheikha Bassiouny, Ibrahim |
| Description | Author Affiliation: Ali YA ( Division of Neonatal-Perinatal Medicine Women's Hospital, Hamad Medical Corporation, Doha, Qatar.) |
| Abstract | Hereditary multiple intestinal atresia (HMIA), a presumed autosomal recessive disorder, is an unusual and rare form of recurrent intestinal atresia which can be associated with severe combined immunodeficiency (SCID). The combination of HMIA and SCID is invariably lethal. The authors describe this fatal association in two siblings. The parents are consanguineous and have three other normal healthy children. Both index cases had abnormal antenatal ultrasounds and were symptomatic after birth. The final diagnosis of HMIA with SCID was confirmed in both siblings. They were never able to receive enteral feeds, remained totally dependent on parenteral nutrition, had repeated episodes of sepsis and died after a very difficult neonatal intensive care course. In this article we have reviewed the clinical course and outcome of both cases. The existing literature on multiple intestinal atresia, HMIA and HMIA with immunodeficiency is also reviewed. |
| e-ISSN | 1757790X |
| Journal | BMJ Case Reports |
| Volume Number | 2011 |
| Language | English |
| Publisher | BMJ Publishing Group Ltd. |
| Publisher Place | Great Britain (UK) |
| Access Restriction | Open |
| Subject Keyword | Intestinal Atresia Complications Severe Combined Immunodeficiency Infant, Newborn Diagnosis Genetics Time Factors Multidisciplinary |
| Content Type | Text |
| Resource Type | Article |
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