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Journals / Güncel Pediatri / 2014 / Cilt: 12 - Sayı: 2

Infantile Onset Glycogen Storage Disease Type 2: Case Report

İnfantil Başlangıçlı Bir Tip 2 Glikojen Depo Hastalığı: Olgu Sunumu

Saliha ŞENEL
İlyas OKUR
Serkan Bilge KOCA
Bahtışen BAYRAM
Gizem ÜREL
Emine POLAT
Pages
131–134
Publication Date
2022-10-18
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Here we reporta 3.5 month-old girl presenting with respiratory failure due to pneumonia andhypotonia, who was later diagnosed as Pompe disease. (The Jo ur nal of Cur rentPe di at rics 2014;2:131-4)

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Glycogen storage disease type 2 (Pompe s disease) is an autosomal recessive, fatalglycogen storage disease presenting with hypotonia and muscle weakness.
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Key Findings & Data:It isknown that deficiency of lysosomal acid alpha-glucosidase (acid maltase) leadsto progressive generalised myopathy, cardiomyopathy and death in early infancybecause of respiratory muscle weakness.
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Conclusion & Impact:Here we reporta 3.5 month-old girl presenting with respiratory failure due to pneumonia andhypotonia, who was later diagnosed as Pompe disease. (The Jo ur nal of Cur rentPe di at rics 2014;2:131-4)
🔬Design:Research Article
📍Scope:2014 Verileri
⚙️Variables:Domain Parameters

Abstract

Glycogen storage disease type 2 (Pompe s disease) is an autosomal recessive, fatalglycogen storage disease presenting with hypotonia and muscle weakness. It isknown that deficiency of lysosomal acid alpha-glucosidase (acid maltase) leadsto progressive generalised myopathy, cardiomyopathy and death in early infancybecause of respiratory muscle weakness. Excessive undegradable intracellularglycogen deposition plays a role in the pathogenesis of the disease. Here we reporta 3.5 month-old girl presenting with respiratory failure due to pneumonia andhypotonia, who was later diagnosed as Pompe disease. (The Jo ur nal of Cur rentPe di at rics 2014;2:131-4)

Özet

Glikojen depo hastalığı tip 2 (Pompe hastalığı) hipotoni ve kas güçsüzlüğü ileseyreden otozomal resesif geçişli fatal bir glikojen depo hastalığıdır. Lizozomalasit alfa-glikozidaz (asit maltaz) enziminin eksikliğinin ilerleyici jeneralizemiyopati, kardiyomiyopati ve solunum kasları güçsüzlüğü nedeniyle erken sütçocukluğu döneminde ölüme yol açtığı bilinmektedir. Hastalığın patogenezindehücreler içinde yıkılamayan aşırı glikojen birikimi rol oynar. Bu yazıda 3,5 aylıkpnömoni ve hipotoninin yol açtığı solunum yetmezliği ile başvuran, daha sonraPompe hastalığı tanısı alan hasta sunuldu. (Gün cel Pe di at ri 2014;2:131-4)

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Cite This Article

ŞENEL, S., OKUR, İ., KOCA, S. B., BAYRAM, B., ÜREL, G., POLAT, E. (2022). Infantile Onset Glycogen Storage Disease Type 2: Case Report. Güncel Pediatri, Cilt: 12 - Sayı: 2, 131–134. https://ajindex.com/articles/526106

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