Çoklu organ yetmezliği ile başvuran bir 22 q11.2 delesyonu

Abstract

The 22q11.2 deletion syndrome is a genetic disorder seen inone out of every 4,000-6000 live births. The effects of the deletion can include a variety of physical findings, such as heart problems, cleft palate, facial dysmorphism, tymic hypoplasia, hypocalcemia, immune deficiency, developmental issues, including learning difficulties. The case was the second born child of 33 year old healthy mother by Caesarian section at 37 weeks of gestation. Birth weight of the baby girlwas 3400 g. She was referred to our unit on her first day due to respiratory distress. She had diffuse edema, cutis marmoratus and low set ears. Her oral orifice was small and the mouth was pulled downward on one side while crying. She was tachypneic, grunting. She had cyanosis, retractions, nasal flaring and hepatomegaly. Femoral pulses were weak. She had hypocalcemia, metabolic acidosis, hyperuricemia, hyperkalemia, abnormal renal function tests. Thymic shadow was absent on chest x-ray. Thrombocytopenia and giant thrombocytes were seen on peripheral blood smear. PTH level was normal. Interrupted aortic arch type-B was detected by echocardiographic examination and prostoglandin infusion was started. 22q11.2 deletion was detected by FISH examination. Interrupted aortic arch cases may be present with metabolic acidosis, edema, hepatomegaly and multiorgan failure during newborn period. 22q11 deletion should be considered in interrupted aortic arch cases with accompanying features such as characteristic facial appearance, thymic aplasia, hypocalcemia, giant thrombocytes and surgical team should be informed.