AI Summary & Key Takeaways
AI InsightIn 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, failure to thrive and convulsion after an uneventful labor, as well as in those developing signs and symptoms of neonatal sepsis without any risk factors baby.
📌 3 Key Takeaways
Abstract
3000 gr term female infant while healthy at birth, after 24 hours the loss of tonus began to appear had referred to us breastfeeding difficulties, vomiting at third day. On her physical examination she was hypotonic, decreased turgor, dry mouth, decreased response to painful stimuli and tachypneic. Neonatal reflexes were decreased. In family history, there was second degree consanguinity between her parents. In her father's second degree relatives sudden infant death history was seen. During follow-up, she developed hypoglisemia, persistent myoclonic convulsions, metabolic acidosis, renalfailure. On tandem mass spectrometric analysis (Tandem MS), C3-propionyl carnitin level was increased. Urine organic acid analysis revealed increased 3-OH propionic acid, fumaric acid, andpropionylglycine levels. She was diagnosed as propionic acidemia and a protein restricted diet 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, failure to thrive and convulsion after an uneventful labor, as well as in those developing signs and symptoms of neonatal sepsis without any risk factors baby.
Özet
Doğumda sağlıklı iken 24 saatten sonra tonus kaybı belirmeye başlayan ,üçüncü gün emmede azalma ve kusma şikayeti ile kliniğimize başvuran 3000 gr zamanında doğan kız bebek fizik muayenesinde letarjik, hipotonik, turgoru azalmış, ağız mukozası kuru, ağrılı uyarana yanıtı azalmış ve takipneik olarak gözlendi. Yenidoğan refleksleri azalmıştı. Aile hikayesinde anne-baba arasında ikinci derece akraba evliliği ve babanın ikinci derece akrabalarında ani bebek ölümü hikayesi olan hastanın takibinde hipoglisemi, dirençli miyoklonik nöbetler, metabolik asidoz ve böbrek yetmezliği gelişti. Tandem mass spektrometrik (Tandem MS) analizi sonucu yüksek plazma C3-Propiyonil karnitin düzeyi saptandı. Ayrıca idrar organik asit incelemesinde 3-OHpropiyonik asit, fumarik asit vepropiyonil glisin seviyelerinde artış gözlendi. Bu bulgular ışığında hastaya propiyonik asidemi tanısı kondu. Proteinden fakir diet, biotin tedavisi başlandı. Akraba evliliğinin yaygın olduğu ülkemizde sağlıklı doğmuş ancak hipotonisi, emme güçlüğü ve konvülsiyonu olan yenidoğan veya herhangi bir risk faktörü yokken neonatal sepsis tablosu gelişen bebeklerde doğumsal metabolizma hastalıkları daima akılda tutulmalıdır.