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Pregled bibliografske jedinice broj: 1056578

Rare mutation of Congenital Myasthenic Syndrome


Sekelj Fureš, Jadranka; Đuranović, Vlasta; Lončar, Lana; Pejić Roško, Sanja; Đaković, Ivana; Vulin, Katarina
Rare mutation of Congenital Myasthenic Syndrome // Clinical frontiers in pediatric neurology 2019, October 17th–18th, 2019, Ljubljana, Slovenia. Scientific programme and abstract book.
Ljubljana, Slovenija, 2019. str. 34-35 (predavanje, međunarodna recenzija, sažetak, stručni)


CROSBI ID: 1056578 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Rare mutation of Congenital Myasthenic Syndrome

Autori
Sekelj Fureš, Jadranka ; Đuranović, Vlasta ; Lončar, Lana ; Pejić Roško, Sanja ; Đaković, Ivana ; Vulin, Katarina

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
Clinical frontiers in pediatric neurology 2019, October 17th–18th, 2019, Ljubljana, Slovenia. Scientific programme and abstract book. / - , 2019, 34-35

Skup
Clinical frontiers in pediatric neurology 2019, October 17th–18th, 2019, Ljubljana, Slovenia.

Mjesto i datum
Ljubljana, Slovenija, 17-18.10.2019

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
congenital myasthenic syndrome ; mutation

Sažetak
Congenital myasthenic syndromes are group of neuromuscular junction disorders. The most common classification of CMS relies on the location of the mutated protein, in presynaptic, synaptic basal lamina or postsynaptic components of the neuromuscular junction. Prevalence of genetically confirmed cases is approximately 9, 2 per million. The syndromes share some of the clinical features like fatigable weakness but are heterogeneous considering age of onset, distribution of weakness, response to therapy because of the underlying genetic defect. We are presenting a boy , age 14, with generalized fatigable weakness that worsens during the day and has become more prominent for the past 2 years. He was born from uneventful pregnancy but presented in infancy with feeding difficulties, hypotonia and prolonged, recurrent respiratory infections. He started walking at the age of 18 months and developed a slurred speech that needed a logopedic therapy. He had eyelid ptosis since birth. Because of the scoliosis he went to psychiatric examination and was referred to neuropediatrics. His laboratory findings including CK and antibodies against AchR i MUSK were normal, but EMNG findings considering repetitive stimulation was positive. He was referred to genetic testing – Neuromuscular Disorders Panel. We got positive result – pathogenic variant identified in CHRD gene responsible for CHRND protein function. Up to date, 32 gene mutations are reported in CMS, CHRND represented in 1% of all mutations so far. CHRND protein is one of five subunits of acetilcholin receptor and by that a mutation of CHRND gene is responsible for AchR malfunction but can also affect the kinetics of AchR leading to prolonged (slow channel syndrome, SCS) or brief openings (fast channel syndrome, FCS). Our patient had clinical features that mostly resembled SCS phenotype, but had his first symptoms in infancy which is not the case in SCS. On the basis of described cases so far, patients can be treated with 3, 4-DAP and pyridostigmin, but if our patient had SCS there could be a deterioration of clinical manifestations if treated with pyridostigmin. Because of that, we have done a pyridostgmin test that was positive and he started the therapy with pyridostigmin.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA


Ustanove:
Klinika za dječje bolesti Medicinskog fakulteta

Profili:

Avatar Url Vlasta Đuranović (autor)

Avatar Url Ivana Đaković (autor)

Citiraj ovu publikaciju

Sekelj Fureš, Jadranka; Đuranović, Vlasta; Lončar, Lana; Pejić Roško, Sanja; Đaković, Ivana; Vulin, Katarina
Rare mutation of Congenital Myasthenic Syndrome // Clinical frontiers in pediatric neurology 2019, October 17th–18th, 2019, Ljubljana, Slovenia. Scientific programme and abstract book.
Ljubljana, Slovenija, 2019. str. 34-35 (predavanje, međunarodna recenzija, sažetak, stručni)
Sekelj Fureš, J., Đuranović, V., Lončar, L., Pejić Roško, S., Đaković, I. & Vulin, K. (2019) Rare mutation of Congenital Myasthenic Syndrome. U: Clinical frontiers in pediatric neurology 2019, October 17th–18th, 2019, Ljubljana, Slovenia. Scientific programme and abstract book..
@article{article, year = {2019}, pages = {34-35}, keywords = {congenital myasthenic syndrome, mutation}, title = {Rare mutation of Congenital Myasthenic Syndrome}, keyword = {congenital myasthenic syndrome, mutation}, publisherplace = {Ljubljana, Slovenija} }
@article{article, year = {2019}, pages = {34-35}, keywords = {congenital myasthenic syndrome, mutation}, title = {Rare mutation of Congenital Myasthenic Syndrome}, keyword = {congenital myasthenic syndrome, mutation}, publisherplace = {Ljubljana, Slovenija} }




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