Cystic retroperitoneal metastasis from testicular seminoma, radiologically mimicking as lymphangioma

Background Retroperitoneal nodal metastasis in a primary testicular tumor is not uncommon and usually presents as solid or solid-cystic nodal masses. A completely cystic appearance with fluid attenuation or fluid signal intensity on computed tomography (CT) and magnetic resonance imaging (MRI), respectively, is an uncommon presentation. There are many case reports of different types of cystic retroperitoneal masses; however, to our knowledge, metastatic retroperitoneal cystic masses showing fluid attenuation/fluid signal intensity on CT/ MRI secondary to primary testicular seminoma masquerading as cystic lymphangioma has been rarely reported in the medical literature. Our case report reports a case of a metastatic retroperitoneal cystic mass in a known case of testicular seminoma patient, which was misdiagnosed as cystic lymphangioma initially based on imaging. Case presentation A 55-year-old—patient presented to our hospital with abdominal pain, which was on and off in character. The patient underwent routine ultrasound abdomen, CT and MRI, which revealed multiple cystic lesions in the retroperitoneum. Initially, a provisional diagnosis of cystic lymphangioma was made based on the utterly cystic nature of the lesion and the presence of calcification. However, fine-needle aspiration cytology (FNAC) confirmed the metastatic origin of the lesion and was strengthened by the previous clinical history of orchidectomy. Conclusion The treatment strategy for cystic retroperitoneal masses varies depending on the cause and its nature, so differentiation between the cystic masses is essential. Metastasis should also be kept in the differentials in all cystic retroperitoneal masses. Moreover, clinical history and FNAC can assist in making the correct diagnosis.

Alpelisib to treat CLOVES syndrome, a member of the PIK3CA-related overgrowth syndrome spectrum

CLOVES syndrome is a rare congenital overgrowth disorder caused by mutations in the phosphatidylinositol 3-kinase catalytic subunit alpha (PIK3CA) gene. It is part of the PIK3CA-related overgrowth syndrome (PROS) spectrum and its treatment is challenging. PROS malformations have traditionally been treated by surgery, but research into pharmacological treatments capable of blocking the PIK/AKT/mTOR pathway has increased over the past decade. Its favorable results in these settings suggest that its compassionate use in patients with PROS disorders could have clinical benefits. Another promising drug is Alpelisib, which is a selective inhibitor that competitively binds to the p110a subunit of PIK3 in the intracellular PI3K/AKT signaling pathway. A low dose of Alpelisib used on compassionate grounds was shown in an uncontrolled case series to have striking effects in a cohort of 19 PROS patients, several with life-threatening complications. Moreover, the low dose of Alpelisib provoked few side effects and did not impair linear growth of the often young patients. We present the case of a patient with CLOVES syndrome who was started on compassionate treatment with Alpelisib after surgical debulking of a cystic lymphangioma and treatment with sirolimus. This promising drug significantly reduced the size of the lymphangioma and prevented progression of the tissue overgrowth in the gluteal region. This case suggest that there may even be collateral benefits of low-dose PI3K inhibition beyond mitigating disease-specific features of PROS.

Mesenteric cystic lymphangioma – A rare case report; National Center for Pediatric Surgery, Gezira State, Sudan; 2021

Cystic lymphangioma is a benign congenital malformation of the lymphatic vessels. At the National Center for Pediatric Surgery, Gezira State, Sudan; 2021; a female baby of 15 months old age presented complaining of abdominal distention of 10 days duration. Patient Looks unwell, not febrile, and not pale or jaundice; abdomen was distended with full flanks, there was a palpable mass in the epigastric region, no area of tenderness and no palpable organs. Abdomino-pelvic U/S showed very huge abdomino –pelvic cystic mass with multiple thick septa. CT abdomen showed huge abdomino-pelvic mass with multiple cysts that having variable sizes measuring up to 6*7 cm. An elective explorative laparotomy was done. Intra operative findings: Multiple cystic masses arise from the root of the small bowel mesentery matted together with multiple enlarged mesenteric lymph nodes involving segment of distal jejunum with multiple adhesions. Release of adhesion, resection of the masses along with 57 cm of the involving jejunum, anastomosis was done, and homeostasis was secured. Histopathology result showed dilated cystic spaces; lined by flat endothelial cells and multiple reactive lymph nodes, no evidence of malignancy. Features are in line with lymphangioma and associated mesenteric lymphadenitis. Discussion and Conclusion: Our case was 15 months old which is the age of presentation as mentioned internationally. Mesenteric cystic Lymphangiomas are more common among male unlike our case. Ultrasonography and CT abdomen were highly recommended to achieve early diagnosis and treatment of such cases.

Cystic lymphangioma over the sternum: An extremely rare and atypical localization

Cystic lymphangioma is a benign lymphatic system malformation that occurs usually in children. Most common site being cervicofacial region followed by axilla; the cases in the chest wall are very rare. We report a case of male infant with cystic lymphangioma occurring at an unusual site- over the sternum.