Naslov
Multiple intestinal atresia with combined immune deficiency caused by TTC7a mutation - case report of 2 full siblings

Autori
Kelčec, L ; Pasini, Miram ; Sabolić, Ivana ; Papeš, Dino ; Ćavar, Stanko ; Antabak, Anko ; Luetić, Tomislav

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
9th Croatian Congress of Pediatric Surgery with International Participation - Book of abstracts / - , 2022, 29-29

Skup
9th Croatian Congress of Pediatric Surgery with International Participation

Mjesto i datum
Pula, Hrvatska, 21.09.2022. - 24.09.2022

Vrsta sudjelovanja
Poster

Vrsta recenzije
Nije recenziran

Ključne riječi
multiple intestinal atresia

Sažetak
This report reviews our experience with hereditary multiple intestinal atresia. It is an extremely rare autosomal recessive disease which presents with multiple atresias of the gastrointestinal tract from stomach to anus with severe combined immunodeficiency (MIA – SCID syndrome). Two cases of HMIA treated at our hospital were review with a particular focus on prenatal diagnosis, radiologic and surgical findings, pathology report and outcome. The female newborn was admitted with prenatally diagnosed intestinal obstruction. Multiple bowel resections and anastomosis have been performed on several occasions. A successful blood stem cell transplant was performed with an adequate haematological and immunological recovery. The hospitalization was complicated by the inability to establish enteral intake and by numerous bacterial infections. Due to one of them, the child died at the age of 6 months. After a little over a year parents had a new child, a boy who was again admitted with signs of intestinal obstruction. Considering the family history, a suspicion of the MIA-SCID was immediately considered, which was proved by genetic analysis. The continuity of stomach, duodenum and proximal part of jejunum was established and decompressed with jejunostomy. Clinical course of the illness was dominated by the recurrent respiratory and urinary tract infections and sepsis resulting in a fatal outcome at three months of age. If the immunodeficiency with multiple intestinal atresias is diagnosed, a gene analysis should be performed to trace the mutation of the TTC7A gene. In the case of a positive MIA-SCID syndrome, it would be favourable to carry out gene testing on parents, inform them about the risks of possible disease in future offsprings, and if they opt for a new pregnancy to undergo prenatal diagnostics.

Izvorni jezik
Engleski

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