Kadri KAMBER, Halil SAĞLAM, Şahin ERDÖL, Yasin KARALI

Propiyonik Asidemi: Olgu Sunumu

Emmede azalma, kusma, halsizlik ve uykuya meyil şikayeti ile başvuran 3.5 aylık erkek çocuk pansitopeni nedeni araştırılmak üzere yo- ğun bakım ünitemize yatırıldı. Doğumda sağlıklı iken, doğumdan 72 saat sonra tonus kaybı, emme güçlüğü kusma ve devamlı uyku hali ortaya çıkan olgunun neonatal sepsis ön tanısıyla 15 gün hastanede yatırılarak izlendiği öğrenildi. Fizik muayenede letarjik, hipotonik, şuuru uykuya eğilimli ve takipneikti; solunum sesleri bilateral kabalaşmıştı ve karaciğer kosta kenarını 2 cm geçiyordu. Emme, arama, yakalama refleksleri yoktu. Dirençli miyoklonik nöbetleri, hipotonisi ve ikinci derece akraba evliliği olması nedeniyle metabolik hastalık açısından araştırıldı. Kan gazında metabolik asidozu saptandı. Plazma ve beyin-omurilik sıvısı kantitatif glisin düzeyleri artmıştı. Tandem kütle spektrometrisi Tandem MS çalışmasında C3-propiyonil karnitin düzeyinde artış saptandı. Ayrıca idrar organik asit değerlendirilmesinde 3-OH propiyonik asit, 3-OH bütirik asit ve propiyonilglisin atılımlarında artış mevcuttu.Bu bulgularla hastaya propiyonik asidemi tanısı kondu. Proteinden fakir diyet, L-karnitin ve biotin tedavisi başlandı. Akraba evliliğinin yaygın olduğu ülkemizde, sağlıklı doğmuş ancak hipotonisi, emme güçlüğü ve konvülsiyonu olan yenidoğan ve süt çocuklarında ve yine miadında doğup da herhangi bir risk faktörü yokken neonatal sepsis tablosu gelişen bebeklerde doğumsal metabolizma hastalıkları daima akılda tutulmalıdır. Güncel Pediatri 2007; 5: 38-40

Anahtar Kelimeler:

Propiyonik asidemi, metabolik asidoz, miyoklonik nöbet, pansitopeni

Propionic Acidemia: Case Report

A three and a half-month-old boy was referred to us to be investigated due to pancytopenia. He had vomiting, lethargy and failure to thrive. It was reported that seventy two hours after an uneventful labor, he developed feeding difficulty, vomiting, hypotonia and let- hargy; and he was hospitalized with an initial diagnosis of neonatal sepsis for 15 days. There was second degree consanguinity bet- ween his parents. On physical examination; he was hypotonic, lethargic, and tachypneic with a slight hepatomegaly of 2 cm. Neonatal reflexes were absent. During follow-up, he developed persistent myoclonic convulsions and metabolic acidosis. Quantitative plasma and cerebrospinal fluid glycine levels were increased. On tandem mass spectrometric study, C3-propionyl carnitin level was increased. Urine organic acid analysis revealed increased 3-OH propionic acid, 3-OH butyric acid, and propionylglycine levels. He was diagnosed as propionic acidemia and a protein restricted diet with oral L-carnitine and biotin supplementations were started. In our country, where the prevalence of consanguineous marriages is very high, inborn errors of metabolism should be strongly considered in all of those full term neonates and children who develop hypotonia, convulsions, lethargy and failure to thrive after an uneventful labor, as well as in those developing signs and symptoms of neonatal sepsis without any risk factors both in the baby and in the mother.

Keywords:

Propionic acidemia, metabolic acidosis, myoclonic convulsions, pancytopenia.,

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