İnspiratuvar stridor klinik bulgusu ile saptanan argininosüksinik asidüri: yenidoğan olgusu

Abstract

A Ar rg gi in ni in no os su uc cc ci in ni ic c a ac ci id du ur ri ia a i in n a a n ne eo on na at te e p pr re es se en nt te ed d w wi it th h i in ns sp pi ir ra at to or ry y s st tr ri id do or r E Em mr ra ah h C Ca an n, , A Al li i B Bü ül lb bü ül l, , S Si in na an n U Us sl lu u, , A As si iy ye e N Nu uh ho o¤ ¤l lu u* * IntroductionArgininosuccinic aciduria (OMIM-207900) is an autosomal recessive disease characterized with argininosuccinate lyase enzyme deficiency which is classified as an urea cycle disorder. Due to enzyme deficiency argininosuccinic acid (ASA) and ammonia accumulate in body fluids (1). The deficiency was firstly defined in 1958 by Allan et al. (2). Its incidence has been reported to be 1/70 000-91 000 (3). Urea cycle disorders are usually characterized with hyperammonemia, encephalopathy and clinical findings of respiratory alkalosis and have three forms defined according to different genetic mutations (4). In newborns, signs develop in the first week of life and usually in the first 24-72 hours in a healthy newborn baby with normal birth weight. Frequently, first signs include feeding intolerance, vomiting, lethargy, irritability, hypothermia and hyperventilation. Clinical deterioration proceeds rapidly and leads to damage to central nervous system and autonomic nervous system. In the neonatal period, patients are frequently lost in two weeks (5). The second form starts in the early infancy and proceeds slowly. Clinical characteristics of this form include mental and motor retardation, repeated convulsions, change of consciousness, hepatomegaly, skin lesions and "trichorrhexis nodosa" (6). The third form is the subacute or lateonset type and signs occur in infancy, childhood or puberte. The most prominent characteristics of the lateonset type include mental retardation, intermittent ataxia and intermittent hyperammonemia (2). This article presents a case diagnosed with argininosuccinic aciduria in the neonatal period with a clinical sign of severe stridor. Case reportBaby A. was born by cesarian section because of cephalopelvic disproportion at the 39th gestational week as the first baby of an eighteen year old mother. Apgar scores were 8 and 10 at the 1st and 5th minutes. The baby was brought to the emergency department on the third day of life because of restlessness and rejection of feeding. On the first evaluation, severe stridor and tachypnea were found and the baby was hospitalized in the neonatal intensive care unit. The mother and father were first degree cousins. Prenatal follow-up was done regularly and no problem was found. On physical examination, weight was found to be 3450 g, height was found to be 49 cm and head circumference was measured as 33 cm. Respiratory examination revealed tachypnea, nasal flaring, stridor and intercostal retractions. Heart C Ca as se e R Re ep po or rt t S Su um mm ma ar ry yA newborn who was brought with a clinical finding of severe inspiratory stridor was diagnosed with argininosuccinic aciduria after laboratory tests. This case is p...