ABSTRACT
Internal hernias in preterm neonates, although rare, can arise due to various anatomical and physiological factors associated with prematurity. We report a case of a preterm infant with symptoms of suspected necrotizing enterocolitis (NEC) that turned out to be an internal hernia during surgical exploration. Given the overlapping symptoms, it is crucial to maintain a high index of suspicion and utilize the appropriate imaging techniques, such as ultrasound or radiographic studies, to aid in the differentiation between NEC and internal hernia, especially when responding to cases that do not improve with standard NEC management or exhibit atypical features. Early recognition and accurate differentiation are crucial for appropriate management and prevention of complications in affected neonates.
ABSTRACT
OBJECTIVES: To highlight important clinical aspects of Persistent Müllerian duct syndrome (PMDS). PMDS belongs to the group of differences of sex development. It is attributed to mutations in genes encoding for the anti-Müllerian hormone or its type II receptor (AMHR2) and inherited via an autosomal recessive transmission. CASE PRESENTATION: An 18-day-old male infant with known bilateral cryptorchidism, presented with left-sided obstructed inguinal hernia. The diagnosis of PMDS was considered during inguinal exploration as both testes together with uterus and fallopian tubes were recognized in the hernial sac. Histology confirmed the presence of Müllerian-derived tissues. Genetic testing revealed two different mutations of the AMHR2 gene, both with autosomal recessive transmission: a frequently encountered deletion of 27 pairs bases on exon 10 of this 11 exon gene and a novel deletion of 2 pairs bases on exon 6. CONCLUSIONS: This case is notable being the rarest type of PMDS, that of transverse testicular ectopia and associated with a novel AMHR2 gene mutation.
