Ultrasonography in Children With Congenital Pyriform Sinus Fistula: Analysis of 31 Cases.

OBJECTIVES: Congenital pyriform sinus fistula (CPSF) is a rare disease that can be easily misdiagnosed. This study investigates the value of ultrasonography in the early diagnosis and treatment of CPSF in children. METHODS: Clinical features and ultrasonography images of 31 CPSF pediatric patients confirmed by operation were retrospectively analyzed, different sonographic features during the infection period and the quiescence period were summarized and the consistency test of ultrasonic recognition and diagnosis between observers was conducted. RESULTS: In this study, 25 CPSF children had thick-walled cystic masses during the infection period, and cystic masses of 8 cases showed gas echo inside; after the modified valsalva maneuver, gas echo was found in another 5 cases. The detection rate of gas can be enhanced through the modified valsalva maneuver and infants' cry so as to provide an important basis for the diagnosis of pyriform sinus fistula. During the quiescent period of inflammation of 6 cases, fistula can be completely shown, and the wall structure has not been completely destroyed, so that the running position of fistula can be clearly seen. Ultrasonography boasted a good inter-observer consistency in identification and determination (Kappa:0.799-0.857; P<0.001). CONCLUSION: Ultrasonography could clearly reveal the position and direction of CPSF fistula. Different ultrasonic characteristics in different periods could provide relevant information for the selection of clinical operation timing and evaluate the post-operative effects.

Diagnosis of neonatal neurofibromatosis type 1: a case report and review of the literature.

BACKGROUND: Neurofibromatosis Type 1 (NF1) is a rare genetic disorder characterized with the development of multiple benign tumors on the nerves and skin. CASE PRESENTATION: This report described a neonatal case with a large mass observed on the left side of the maxillofacial and cervical region at birth. Meantime, multiple cafe-au-lait macules (CALMs) were seen on the trunk and both lower extremities. CONCLUSIONS: In this case, the clinical features of the rare NF1 neonate are discussed along with its ultrasound findings.