PRIMARY IMMUNODEFICIENCY IN A CHILD WITH HETEROTAXY

Heterotaxy is a complicated symptom complex in which the location of the main internal organs differs from their normal and complete mirror reflection. Ivemark syndrome - a combination of spleen agenesis with congenital heart disease and abnormalities in the location of the abdominal organs. The exact reason is unknown. Mostly sporadic cases. Genetic and infectious-toxic factors that damage the differentiation of embryonic tissues between the 31st and 36th days of embryogenesis are discussed. The article presents a clinical observation of a patient with Ivemark syndrome, illustrating the difficulties of diagnosing congenital malformations. The peculiarity of this clinical case was determined by the combination of the syndrome with primary immunodeficiency and vascular malformation. Ivemark syndrome is a rare disease, therefore, the awareness of primary care physicians in relation to this pathology is low. Early diagnosis of primary immunodeficiency before a child is at risk of infection is extremely important. There is demonstrated an example of pharmacological correction, which allows prolonging the patient's life.

Ivemark syndrome with obstructed supracardiac TAPVC- case report

Heterotaxy disorder is a disturbance in the usual left and right distribution of the thoracic and abdominal organs. Ivemark syndrome is one such heterotaxy disorder. It is a rare disorder which affects males more than females with majority of cases presenting in the neonatal period mainly due to complex congenital cardiac disease. Here is a case report of rare disorder of the neonate with Ivemark syndrome with obstructed supracardiac total anomalous pulmonary venous connection (TAPVC). Management of obstructed supracardiac TAPVC is complicated as PGE1 infusion is contraindicated and immediate surgical correction is advised.