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Coincidence of Nemaline Myopathy and Agenesis of Corpus Callosum in a Newborn Infant: Case Report [J Behcet Uz Child Hosp]
J Behcet Uz Child Hosp. 2019; 9(3): 259-262 | DOI: 10.5222/buchd.2019.38801  

Coincidence of Nemaline Myopathy and Agenesis of Corpus Callosum in a Newborn Infant: Case Report

Sinem Akbay1, Esra Ozer2, Ozkan Ilhan3, Berat Kanar4, Seyma Memur5, Gulden Diniz6, Dilek Cavusoglu7, Nihal Olgaç Dündar8
1Neonatology, Tokat State Hospital, Turkey
2Department Of Neonatology, Celal Bayar University, Turkey
3Department Of Neonatology, Muğla Sıtkı Koçman University, Turkey
4Neonatology, Mardin State Hospital, Turkey
5Department Of Neonatology, Kanuni Sultan Süleyman Training And Research Hospital, Turkey
6Department Of Pathology, Izmir Tepecik Training And Research Hospital, Turkey
7Department Of Pediatric Neurology, Afyon Kocatepe University, Turkey
8Department Of Pediatric Neurology, Izmir Katip Celebi University, Turkey

The diagnosis of the hypotonia at the neonatal period is difficult. In the neonatal period, the differential must include acute illnesses and systemic diseases such as sepsis, congestive heart failure and inborn errors of metabolism. Congenital disorders that affect nervous system can be the reason of hypotonia. Nemaline myopathy (NM) is a rare congenital myopathy, characterized by slowly progressive or nonprogressive muscle weakness and the inclusions known as nemaline rods characterized by rod-shaped structures (nemaline bodies) on muscle biopsy and can be presented with hypotonia, feeding problems, repeated respiratory infections, and arthrogryposis. Also, agenesis of corpus callosum (ACC) can generate an inter-hemispheric disconnection and neurologic problems such as mental retardation, seizures can be seen. Unfortunately, there is no curative treatment for both of them. Here, we report an infant who was admitted with generalized muscle weakness at the neonatal period and diagnosed as ACC with NM.

Keywords: agenesis corpus callosum, hypotonia, nemaline myopathy, newborn.


Yenidoğanda Nemalin Miyopatisi ve Korpus Kallosum Agenezisi Birlikteliği: Olgu Sunumu

Sinem Akbay1, Esra Ozer2, Ozkan Ilhan3, Berat Kanar4, Seyma Memur5, Gulden Diniz6, Dilek Cavusoglu7, Nihal Olgaç Dündar8
1Tokat Devlet Hastanesi, Neonatoloji, Tokat
2Celal Bayar Üniversitesi Tıp Fakültesi, Neonatoloji, Manisa
3Muğla Sıtkı Koçman Üniversitesi Tıp Fakültesi, Neonatoloji, Muğla
4Mardin Devlet Hastanesi, Neonatoloji, Mardin
5Kanuni Sultan Süleyman Eğitim Ve Araştırma Hastanesi, Neonatoloji, İstanbul
6İzmir Tepecik Eğitim Ve Araştırma Hastanesi, Patoloji, İzmir
7Afyon Kocatepe Üniversitesi, Pediatrik Nöroloji, Afyon
8İzmir Katip Çelebi Üniversitesi, Pediatrik Nöroloji, İzmir

Yenidoğan döneminde hipotonisitenin tanısı zordur. Yenidoğan döneminde, akut hastalıklar ve sepsis, konjestif kalp yetmezliği ve konjenital metabolik hastalıklar gibi sistemik hastalıklar ayırıcı tanıda düşünülmelidir. Sinir sistemini etkileyen konjenital bozukluklar hipotonisitenin nedeni olabilir. Nemalin miyopatisi (NM), yavaş ilerleyen veya progresif olmayan kas zayıflığı ve kas biyopsisinde çubuk şeklindeki yapılar (nemalin cisimleri) ile karakterize olan, hipotoni, beslenme problemleri, tekrarlayan solunum yolu enfeksiyonları ve artrogripozis ile karşımıza çıkabilen nadir bir konjenital miyopatidir. Ayrıca korpus kallozum agenezisi (ACC), hemisferler arasında bağlantısızlık yaratabilmekte; mental retardasyon, konvülziyon gibi nörolojik problemlerle ortaya çıkabilmektedir. Ne yazık ki, ikisi için de iyileştirici bir tedavi yoktur. Burada, yenidoğan döneminde yaygın kas güçsüzlüğüyle başvuran ve nemalin miyopatisi ile korpus kallozum agenezisi tanısı alan bir bebeği sunuyoruz.

Anahtar Kelimeler: korpus kallosum agenezisi, hipotonisite, nemalin miyopatisi, yenidoğan.


Sinem Akbay, Esra Ozer, Ozkan Ilhan, Berat Kanar, Seyma Memur, Gulden Diniz, Dilek Cavusoglu, Nihal Olgaç Dündar. Coincidence of Nemaline Myopathy and Agenesis of Corpus Callosum in a Newborn Infant: Case Report. J Behcet Uz Child Hosp. 2019; 9(3): 259-262

Corresponding Author: Sinem Akbay, Türkiye


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