Fanconi Anemia: A Rare Genetic Disorder.

Fanconi anemia is a rare genetic disorder affecting various body systems. Congenital abnormalities, poor hematopoiesis, a higher incidence of acute myeloid leukemia, myelodysplastic syndrome, and malignancies are the hallmarks of this autosomal recessive condition. In certain instances, the clinical signs and highly diverse phenotypic presentation make a diagnosis challenging. In this case report, an eight-year-old boy presented with recurrent episodes of fever, generalized weakness and physical deformities. He had left thumb deformity, triangular face, short stature, and hyperpigmentation with café au lait spots. Bone marrow biopsy revealed hypoplastic marrow, peripheral blood smear revealed pancytopenia, and chromosomal breakage testing was also positive.

Rare Concomitant Cesarean Scar Ectopic Pregnancy With Tubal Ectopic Pregnancy: A Case Report.

A cesarean ectopic pregnancy is the rarest of all pregnancies and occurs when pregnancy implants on a cesarean scar. Incidence estimated in overall cesarean delivery is 1/1,800-1/2,500. Following a cesarean procedure, this abnormal embryo implantation into the uterine myometrium and fibrous tissues has a high rate of morbidity and mortality. The most common type of ectopic pregnancy is tubal ectopic pregnancy, and both their incidence and their frequency are rising. Early detection and treatment of ectopic pregnancy are crucial since delays in these processes might result in maternal death and morbidity. We are reporting a case of two concurrent pregnancies in a 27-year-old female with two separate implantation sites. The simultaneous occurrence of a tubal and an ectopic scar pregnancy was highly unusual. Early detection and treatment of ectopic pregnancy help prevent complications, death, and morbidity because it is a potentially fatal condition.

Intricacy in the Diagnosis of Retroperitoneal Angiomyolipoma: A Rare Case.

An uncommon benign mixed mesenchymal tumor called extrarenal retroperitoneal angiomyolipoma (ERAML) comprises thick-walled blood vessels, smooth muscle cells, and mature fat cells. Angiomyolipoma often develops in the kidneys, with extrarenal locations being uncommon. Many angiomyolipomas are unintentionally discovered when a person undergoes other medical issues. A 35-year-old man presented with a history of difficulty breathing and was on antibiotics. On follow-up, CT revealed a 22.5 × 14.3 × 8.6 cm right retroperitoneal mass. The retroperitoneal mass was resected en bloc at laparotomy and sent for histopathological examination. The grossly resected specimen was a smooth, well-circumscribed, yellowish-red retroperitoneal mass measuring 23 × 15 × 9 cm. The microscopic section reveals a tumor with prominent blood vessels and fatty tissue composed of spindle cells arranged into fascicles. The final diagnosis for this case is ERAML, which was challenging to distinguish from liposarcoma.