Goldenhar syndrome (GS) is the most severe form of the oculoauriculovertebral spectrum, a developmental disorder primarily involving the structures derived from the first and second branchial arches, intervening first pharyngeal pouch and branchial cleft characterized by microtia, facial asymmetry, ocular abnormalities, and abnormalities of the vertebral column. A multifactorial etiology involving genetic and environmental factors has been proposed and the majority of the cases are sporadic in occurrence. The clinical phenotype of GS is highly variable and multiple associated anomalies of various organ systems have been reported in the literature. The term “Expanded Goldenhar Complex” has been used when there are associated unusual extrafacial abnormalities involving major organ systems such as the central nervous system, cardiovascular system, and respiratory system. We report a case of Expanded Goldenhar Complex with multiple anomalies, some of which are very rarely reported associations. A 5-year-old boy presented with right-sided hemifacial microsomia, microtia, preauricular and malar skin tags, bilateral radial club hands, and scoliosis since birth. Imaging revealed additional abnormalities including aural atresia, unilateral pulmonary agenesis, dextrocardia, vertebral segmentation defects, left renal ectopia, and right undescended testis. Surgical corrections were undertaken for the right radial club hand and undescended testis and he is awaiting surgery for the left club hand. Complete imaging evaluation of children with dysmorphic facies and limb abnormalities helps in identifying the various associated organ anomalies and to arrive at an accurate syndromic diagnosis. These patients have to be managed by a multidisciplinary team of clinicians on a case-to-case basis and have a good prognosis if there are no major cardiac defects or intellectual disability.

Serous cystadenomas account for ~10 to 29% of pancreatic cystic tumors. Solid serous cystadenoma (SSCA) is a rare variant, first described in 1996, with imaging characteristics different from the classical serous cystadenoma of the pancreas and can cause a diagnostic dilemma due to its resemblance to other solid tumors of the pancreas. To the best of our knowledge, only 22 cases of SSCA of pancreas have been reported till date.A 50-year-old female patient underwent contrast-enhanced computed tomography (CECT) of the abdomen for a hypoechoic lesion detected in the body of the pancreas during ultrasound (US) examination. Due to the hyperenhancement of the well-circumscribed lesion in the arterial phase, a provisional diagnosis of neuroendocrine tumor was considered. Gallium 68-labeled somatostatin-analog (Ga 68-DOTANOC) positron emission tomography CT scan did not show any uptake within the lesion and endoscopic US (EUS)-guided fine-needle aspiration cytology (FNAC) was also inconclusive. She underwent laparotomy and the lesion was enucleated and it was proven to be a serous microcystadenoma on postoperative histopathologic examination.A diagnosis of SSCA should be considered for solid-appearing pancreatic lesions with characteristic CECT features such as arterial phase hyperenhancement, and immediate washout, along with negative results on DOTANOC scan and EUS-guided FNAC. Malignant transformation of SSCA has not been reported till date, and hence these can be safely followed up, instead of invasive surgery.

Limb body wall complex (LBWC) is a rare, lethal malformation characterised by body wall defects, craniofacial and limb anomalies with or without various other organ anomalies. We report a case of dichorionic diamniotic twin pregnancy discordant for LBWC, diagnosed by ultrasound (US) and confirmed by MRI at 21 weeks’ gestation, managed expectantly and delivered at 35 weeks by emergency caesarean section with a favourable outcome of the unaffected twin. The anomalous twin, who died soon after birth, had a sizeable thoracoabdominal wall defect, eviscerated liver and bowel loops attached to the placenta, short cord, ectopia cordis, lung hypoplasia, kyphoscoliosis, right upper limb amelia and left clubfoot with polydactyly. MRI helps to demonstrate the fetal morphology better when there are limitations to the US due to unfavourable fetal position, multifetal gestation, maternal obesity or reduced liquor. In twin pregnancies, the management will depend on ensuring the survival of the unaffected twin.

Portal cavernoma cholangiopathy (PCC) refers to the cholangiographic abnormalities that occur in patients with portal cavernoma. These abnormalities may be either due to chronic portal vein thrombosis or extrahepatic portal vein occlusion. These abnormalities occur due to enlargement of the bridging tortuous paracholedochal, epicholedochal, and cholecystic veins exerting pressure on the bile ducts. Ischemic changes can also occur in the bile duct due to portal vein thrombosis, which affects the microvascular circulation or associated hepatic artery thrombosis. These may be either reversible with shunt procedures such as transjugular intrahepatic portosystemic shunt (TIPS) or irreversible in the advanced stage, leading to recurrent episodes of biliary pain, cholangitis, and cholestasis. Occasionally it may present as mass-like diffuse common bile duct (CBD) wall thickening, which may be confused with mimickers like primary CBD lymphoma, immunoglobulin G4-related sclerosing cholangitis, and even cholangiocarcinoma on imaging. Thus, we need to be aware of the mass-forming PCC imaging findings to avoid unnecessary invasive procedures like biopsy or surgical intervention. Here, we present a case of PCC, which presented as mass-like diffuse CBD wall thickening with patent lumen on ultrasound that led to further workup with contrast-enhanced computed tomography and magnetic resonance imaging. The wall thickening showed persistent delayed enhancement, no significant diffusion restriction, and there was also associated superior mesenteric vein thrombosis with multiple mesenteric collaterals. A positron emission tomography-CT scan also ruled out malignant disease as there was no uptake. Finally, a diagnosis of mass-forming PCC was made by combining imaging features and excluding other causes.

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