Role of Imaging and Cytogenetics in Evaluation of DiGeorge Syndrome - A Rare Entity in Clinical Practice.

DiGeorge syndrome is a congenital genetic disorder that affects the endocrine system, mainly the thymus and parathyroid glands. The syndrome produces different symptoms, which vary in severity and character between patients. It manifests with craniofacial dysmorphism and defects in the heart, parathyroid, and thymus. Patients can present with a palatal deformity and nasal speech. This rare entity is caused mainly due to deletion of chromosome 22q11.2. Radiographic evaluation of DiGeorge syndrome is necessary to define aberrant anatomy, evaluate central nervous system, craniofacial abnormalities, musculoskeletal system, and cardiothoracic contents. It also helps in planning surgical procedures and surgical reconstructions. We report a case of DiGeorge syndrome in a 4-month-old neonate and discuss the clinical, imaging, and cytogenetic findings that helped in the diagnosis of this rare entity.

Spontaneous ovarian hyperstimulation syndrome with primary hypothyroidism: Imaging a rare entity.

Ovarian hyperstimulation syndrome is a disorder associated with ovulation induction and is rarely seen in pregnant women. Very few cases of spontaneous ovarian hyperstimulation syndrome have been reported in a woman who is neither pregnant nor undergoing ovulation therapy. This case report describes how spontaneous ovarian hyperstimulation syndrome is associated with primary hypothyroidism in a 25-year-old, nonpregnant woman who is not on ovulation induction therapy. Imaging and laboratory findings confirmed the diagnosis of this rare entity, which aided the clinicians in providing prompt management and in preventing further complications.

A rare case of aneurysm of arc of riolan artery and gastroduodenal artery.

Arc of Riolan is a collateral channel that connects the proximal superior mesenteric artery (SMA) or its middle colic branch and the proximal inferior mesenteric artery or its left colic branch in case of stenosis of either of the arteries. A 65-year-old diabetic female presented with vague abdominal pain. Ultrasonography showed a large aneurysm within the abdomen in the left lumbar region. Computed tomography (CT) angiography done showed severe diffuse atherosclerotic calcification of the abdominal aorta with complete occlusion of the celiac trunk and mild stenosis of SMA origin. The arc of Riolan was seen between the middle colic artery and the ascending branch of the left colic artery, with a large saccular aneurysm in its mid section. No evidence of rupture or hematoma was visible. Another saccular aneurysm was also seen involving the gastro-duodenal and the pancreatico-duodenal collateral arcade. As far as we know, this is the first case of arc of Riolan artery aneurysm to be reported in English literature.