Late presentation of Swyer syndrome: A case report.

Swyer syndrome-a rare syndrome associated with complete gonadal dysgenesis-is seen in phenotypically female patients with 46-XY karyotype. They usually present with primary amenorrhea or delayed puberty. The dysgenetic gonad, which is nonfunctional, is prone to undergo malignant transformation such as dysgerminoma, gonadoblastoma, etc. Timely diagnosis helps in deciding appropriate management strategies for the patient such as hormone replacement therapy and gonadectomy. Thirty-year-old patient with a female external phenotype presented to us with complaints of primary amenorrhea. There was no similar family history of infertility, amenorrhea, abnormal external genitalia development, or cryptorchidism. On physical examination, the breast development of the patient was within normal limits for her age (Tanner stage 5), however; the axillary and pubic hair were underdeveloped (Tanner stage 2). Pelvic and inguinal ultrasound of the patient showed a hypoplastic uterus along with a cystic structure in left pelvis with no evidence of any testes like structure in inguinal region, pelvis, or abdomen. The patient was further evaluated with MRI of pelvis which confirmed the ultrasound findings of a hypoplastic uterus along with a dysplastic cystic left gonad with no evidence of any ovary or ovary-like structure/testes/testes-like structure in abdomen. Possibility of complete gonadal dysgenesis was given which was further confirmed by the hormonal assay that showed hypergonadotropic-hypogonadism with raised serum follicular stimulating hormone (FSH) and serum luteinizing hormone (LH) levels and a low estradiol, low testosterone, and low anti-Mullerian hormone (AMH) levels. Serum prolactin (PRL), serum thyroid stimulating hormone (TSH), and serum beta human chorionic gonadotropin (beta hCG) levels were within normal range. The cytogenetic report of the patient showed a 46-XY karyotype confirming our diagnosis. The patient was advised to undergo prophylactic gonadectomy for the left gonad. Swyer syndrome is a rare disorder of sexual development which needs vigorous clinical, laboratory, and radiological evaluation. Ultrasound is the primary investigation of choice whereas MRI is used as a problem-solving tool in localizing the streak gonads. Early diagnosis is crucial in these patients since prophylactic gonadectomy reduces the risk of developing germ cell tumor.

Vanishing acardiac twin with TRAP syndrome: A case report.

Acardiac twin is a rare complication of monochorionic twin pregnancy. We present case of a 24 years-old primigravida with monochorionic pregnancy having an amorphous acardiac twin diagnosed during routine first trimester ultrasound scan. She was managed expectantly since there were no signs of hemodynamic compromise in the normal twin with close ultrasound fetal surveillance using gray scale and color Doppler ultrasound. Spontaneous regression of vascularity with reduced size of the acardiac twin was seen subsequently.

Extraskeletal Ewing sarcoma presenting as an axillary mass with pulmonary metastases.

Extraskeletal Ewing sarcoma (EES) is a tumour of rare variant of the Ewing sarcoma family of tumours. This family of tumours can have different features; however, these tumours are categorised on the basis of genetic translocation, specific molecular and immunohistochemical features. EES is seen commonly affecting young adults with poor prognosis and high mortality rates. It can be detected in various locations making its diagnosis more difficult. It can present with varied imaging features, often non-specific. However, imaging plays a vital role in the primary tumour assessment, local staging, preoperative management and surveillance. Management involves surgery with chemotherapy. Long-term prognosis in cases of metastatic disease is very poor. In literature, only three cases of axillary EES have been reported so far. Here, we report the fourth case of large EES originating in the left axillary region in a woman in her 20s. The patient was given neoadjuvant chemotherapy; however, the size of the tumour increased, which was later surgically treated with complete excision of the tumour. Unfortunately, the tumour metastasised to the lung for which the patient was irradiated. Afterwards, the patient presented to the emergency room with respiratory distress for which she was on ventilator support; sadly, the patient died after 1 week.

Undifferentiated embryonal sarcoma masquerading as liver abscess: A case report with typical imaging features.

Undifferentiated embryonal sarcoma (UES) is an uncommon paediatric hepatic tumour that clinically simulates a liver abscess when present with fever. This report describes a case of UES in a 12-year-old boy, who presented with abdominal pain, swelling and fever, all simulating a liver abscess. The possibility of UES was considered at imaging, based on the solid appearance on ultrasound and cystic appearance with serpiginous peripheral vessels on computed tomography/magnetic resonance imaging. The diagnosis was confirmed at histopathology.

Encephalocraniocutaneous lipomatosis: A rare congenital neurocutaneous syndrome.

Encephalocraniocutaneous lipomatosis (ECCL) is a rare sporadic congenital neurocutaneous disorder with quite specific clinical features and neuroimaging pattern that is well seen on MR imaging.