Cases with familial myasthenic syndrome

Sibel Güler; Levent Sinan Bir; Attila Oğuzhanoğlu

Ailesel myastenik sendromlu olgular

Year 2012, Issue: 1, 31 - 36, 01.04.2012

Sibel Güler Levent Sinan Bir Attila Oğuzhanoğlu

Abstract

38 ve 43 yaşındaki iki kardeşile benzer klinik bulgular gösteren aile bireylerinden oluşan ailesel myastenik sendrom tanılıolgular sunuldu. Klinik ve elektrofizyolojik bulgular postsinaptik özellikte nöromusküler bileşke hastalığıtanısınıdestekliyordu. Genetik geçişli myastenilerin bazıformlarında gözlendiği gibi mandibüler prognatizm, yüksek kemerli damak ve uzun bir yüz görünümü tipik olarak mevcut idi. Her olguda asimetrik pitoz sonrasında sırasıyla; oftalmoparezi, bulber tutulum ve solunum aslarıetkilenmekte; hastalık süreci fluktuasyonlu seyretmekte idi. Myastenia gravis'in ailesel formu literatürde nadiren bildirilmektedir. Aile öyküsü ve tipik yüz görünüşü tanıya yardımcıdır. Kolinesteraz inhibitörlerine alınan yanıt orta düzeydedir.

Keywords

Ailesel myastenia gravis, genetik faktörler, prognoz

Cases with familial myasthenic syndrome

Year 2012, Issue: 1, 31 - 36, 01.04.2012

Sibel Güler Levent Sinan Bir Attila Oğuzhanoğlu

Abstract

The cases of two brothers aged 38 and 43 and the relatives with similar clinical presentation, diagnosed as familial myasthenic syndrome, were presented. Clinical and lectrophysiological findings supported the diagnosis of neuromuscular junction with a characteristic of the postsynaptic. As observed in some form of genetic myasthenic syndromes, a typical mandibular prognatism-high-arched palate and long face- was founded. In each case after asymmetric pitosis; ophthalmoparalysis, bulbar involvement and respiratory muscles involvement was respectively occurred. Meanwhile, the course of the disease was going on fluctuatingly. Myasthenia gravis familial form has been rarely reported in the literature. Family history and typical facial appearance is helpful for the diagnosis. Cholinesterase inhibitors are moderately useful.

Keywords

Familial myasthenia gravis, genetic factors, prognosis

There are 0 citations in total.

Details

Other ID	JA92BY57JB
Journal Section	Case Report
Authors	Sibel Güler This is me Levent Sinan Bir This is me Attila Oğuzhanoğlu This is me
Publication Date	April 1, 2012
Submission Date	April 1, 2012
Published in Issue	Year 2012 Issue: 1

Cite

APA	Güler, S., Bir, L. S., & Oğuzhanoğlu, A. (2012). Cases with familial myasthenic syndrome. Pamukkale Medical Journal(1), 31-36.
AMA	Güler S, Bir LS, Oğuzhanoğlu A. Cases with familial myasthenic syndrome. Pam Med J. April 2012;(1):31-36.
Chicago	Güler, Sibel, Levent Sinan Bir, and Attila Oğuzhanoğlu. “Cases With Familial Myasthenic Syndrome”. Pamukkale Medical Journal, no. 1 (April 2012): 31-36.
EndNote	Güler S, Bir LS, Oğuzhanoğlu A (April 1, 2012) Cases with familial myasthenic syndrome. Pamukkale Medical Journal 1 31–36.
IEEE	S. Güler, L. S. Bir, and A. Oğuzhanoğlu, “Cases with familial myasthenic syndrome”, Pam Med J, no. 1, pp. 31–36, April 2012.
ISNAD	Güler, Sibel et al. “Cases With Familial Myasthenic Syndrome”. Pamukkale Medical Journal 1 (April 2012), 31-36.
JAMA	Güler S, Bir LS, Oğuzhanoğlu A. Cases with familial myasthenic syndrome. Pam Med J. 2012;:31–36.
MLA	Güler, Sibel et al. “Cases With Familial Myasthenic Syndrome”. Pamukkale Medical Journal, no. 1, 2012, pp. 31-36.
Vancouver	Güler S, Bir LS, Oğuzhanoğlu A. Cases with familial myasthenic syndrome. Pam Med J. 2012(1):31-6.