Abstract
Nemalin miyopatisi değişik derecelerde ve genellikle ilerleyici olmayan kas güçsüzlüğü hipotoni ve derin tendon reflekslerinin azalması veya kaybı ile karakterize nadir görülen konjenital, herediter bir nöromusküler hastalıktır. Kas güçsüzlüğü ve hipotoni en belirgin özellik olup en sık yüz kasları, boyun ve gövde fleksör kasları, ayak dorsifleksör ve ayak parmak fleksör kasları etkilenir. Bazı hastalarda ince yüz görünümü, yüksek damak, pektus ekskavatum gibi minör bulgular da görülebilmektedir. Diğer atipik bulgular arasında artrogripozis, santral sinir sistemi tutulumu ve konjenital fraktürler sayılabilir.
Burada hipotoni ve bilateral femur fraktürü ile prezente olan bir nemalin miyopatisi olgusu sunulmaktadır. Bu olgu hipotonisi olan olgularda diğer klinik bulgularla birlikte nemalin miyopatisinin ayırıcı tanıda düşünülmesi ve tanı konmasında kas biyopsisinin öneminin vurgulanması amacıyla sunulmuştur.
Keywords
References
- 1. Shy GM, Engel WK, Somers JE. Nemaline myopathy. A new congenital myopathy. Brain 1963;86:793-810.
- 2. Romero NB, Sandaradura SA, Clarke NF. Recent advances in nemaline myopathy. Curr Opin Neurol 2013;26:519-26.
- 3. Nemaline myopathy. GeneReviews. North KN, Ryan MM, Pagon RA (eds). Seattle (WA): University of Washington, Seattle, 1993- 2014. 2002 Jun 19 [updated 2014 Sep 18].
Abstract
References
- 1. Shy GM, Engel WK, Somers JE. Nemaline myopathy. A new congenital myopathy. Brain 1963;86:793-810.
- 2. Romero NB, Sandaradura SA, Clarke NF. Recent advances in nemaline myopathy. Curr Opin Neurol 2013;26:519-26.
- 3. Nemaline myopathy. GeneReviews. North KN, Ryan MM, Pagon RA (eds). Seattle (WA): University of Washington, Seattle, 1993- 2014. 2002 Jun 19 [updated 2014 Sep 18].
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Internal Diseases |
| Journal Section | CASE REPORTS |
| Authors | |
| Publication Date | July 30, 2019 |
| Submission Date | July 13, 2018 |
| Published in Issue | Year 2019 Volume: 13 Issue: 4 |
The publication language of Turkish Journal of Pediatric Disease is English.
Manuscripts submitted to the Turkish Journal of Pediatric Disease will go through a double-blind peer-review process. Each submission will be reviewed by at least two external, independent peer reviewers who are experts in the field, in order to ensure an unbiased evaluation process. The editorial board will invite an external and independent editor to manage the evaluation processes of manuscripts submitted by editors or by the editorial board members of the journal. The Editor in Chief is the final authority in the decision-making process for all submissions. Articles accepted for publication in the Turkish Journal of Pediatrics are put in the order of publication, with at least 10 original articles in each issue, taking into account the acceptance dates. If the articles sent to the reviewers for evaluation are assessed as a senior for publication by the reviewers, the section editor and the editor considering all aspects (originality, high scientific quality and citation potential), it receives publication priority in addition to the articles assigned for the next issue.
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