Leg muscle involvement in polyarteritis nodosa (limited form)-A rare case report.

Polyarteritis nodosa is a necrotizing arteritis involving small and medium vessels. Polyarteritis nodosa can have variable presentations depending upon the organ involved. It can either present as a diffuse disease or a limited form confined to a particular organ. Isolated muscular involvement in this disease is rare, which may present as myalgia, nonspecific fever, weight loss or even as claudication. The imaging pattern on ultrasound and MRI can help diagnose this condition in the background of clinical history and muscle biopsy is confirmatory. We present a case of 15 years old boy who presented with fever, weight loss, myalgia in leg region. MRI and ultrasound examination showed perivascular inflammation in calf muscles with a characteristic "cotton wool" pattern of enhancement on contrast study.

Macrodystrophia lipomatosa of finger-A rare case report.

Macrodystrophia lipomatosa is a rare form of nonhereditary congenital localized gigantism involving upper and lower limbs and is characterized by overgrowth of all the mesenchymal elements predominantly fibro-adipose component, in the distribution of a particular nerve, usually median nerve. It usually presents with progressive painless overgrowth of the involved limb, toe, or digit and is associated with macrodactyly. It might cause limitation of the movement of the involved part. Imaging has an important role in diagnosing this condition and differentiating it from malignant mimics. Imaging findings include hypertrophy of the mesenchymal elements of the involved digits and/or limbs predominantly fibro adipose component with associated overgrowth of the phalanges. In this case report, we present a case of unilateral involvement of index finger and thumb with associated macrodactyly.

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.