Patient: Male, newborn
Final Diagnosis: Fetiform teratoma
Symptoms: Abdomen distension
Medication:—
Clinical Procedure: Surgical removal
Specialty: Pediatrics and Neonatology
Objective:
Unknown etiology
Background:
Teratoma, a tumor containing a variety of tissues, is a broad diagnosis containing mature teratoma, immature teratoma, and teratomas with malignant transformation. The tumor forms during embryological development secondary to unsuccessful migration of primordial germ cells. A specific type of mature teratoma, containing human-like features, is called a fetiform teratoma. The fetiform teratoma is often compared and confused with fetus in fetu, a reabsorbed twin. While these tumors have commonly been described in the gonads, the retroperitoneal location finding on antenatal imaging is rare. The distinction between the aforementioned subtypes is not well established, proving a challenging diagnosis prior to resection.
Case Report:
We present a case of a newborn male with a prenatal diagnosis of retroperitoneal cystic mass. Although prenatal imaging was obtained, the diagnosis remained unclear. After birth, planned surgical excision on day of life 7 showed the suprarenal mass contained contiguous intestinal elements. Histopathology examination revealed a mature cystic teratoma with multiple tissue types, including colonic, brain, respiratory, lymphatics, and nerves, reminiscent of fetiform teratoma. This case report presents an interesting example of differentiating elements straddling the diagnoses mentioned above.
Conclusions:
This is the first reported case of fetiform teratoma diagnosed in a newborn and is especially unique for having the element of intestinal duplication within the retroperitoneal mass. The differentiating features of fetus in fetu and fetiform teratoma depend on subjective distinctions. The case provides an opportunity to discuss the differentials and management strategies.
Background: Biliary Atresia (BA) is congenital condition, where infant intra- and extrahepatic bile ducts become obliterated, leading to cholestasis, and cirrhosis if untreated. This study aims to assess the predictive measure of absent gallbladder on ultrasounds (US) performed in infants with cholestasis for diagnosing BA.Method: After Institutional Review Board approval, retrospective chart reviews of 61 infants with cholestasis found 43 (70.5%) were diagnosed with BA. A pediatric radiologist provided interpretations of all ultrasounds in a blinded fashion. Statistical analysis was used to assess the utility of absence of gallbladder on US in predicting BA, confirmed intraoperatively.Results: Absent gallbladder on US predicts absent gallbladder with 77% accuracy, 92% sensitivity, 73% specificity, PPV 43%, and NPV 97% (P < 0.001, Fisher exact test). To diagnose BA, absent gallbladder on US has 66% accuracy, 53% sensitivity, 94% specificity, 96% PPV, and 46% NPV (P < 0.001, Fisher exact test).Conclusion: Sonographic gallbladder absence has high specificity and PPV, indicating utility for BA diagnosis; however, it is not useful for ruling out BA given its low sensitivity.
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