Congenital myasthenic syndrome in a girl from Albania

Objective: Report of an Albanian girl with congential myasthenic syndrome.

Case report: 6 year old girl from Albania, – after normal pregnancy and birth – developed a ptosis in her third month of life; apart from that she showed a normal development. At the age of 14 months severe breathing problems were noticed while she was suffering from a pulmonary infection. Further-on, a mild weakening of the distal muscles as well as a chronic progressive external ophthalmoplegia were found. Diagnostic parameters: Initially positive acetyl-choline antibodies and positive edrophonium-test, so that a myasthenia gravis was diagnosed. After the girls’ symptoms did not improve markedly under a therapy with high-dosed pyridostigmine a new diagnostic work up was carried out: A mitochondrial disorder could be ruled out, an edrophonium-test was again positive, acetyl-choline and titine antibodies were negative, a decremental response was recorded at repetitive stimulation of the ulnar nerve, MRI of the brain showed an unsuspicious result. Searching for a congenital myasthenic syndrome we carried out genomic DNA investigations, that showed a mutation in the epsilon-subunit gene of the muscular nicotinic acetyl-choline receptor, which is especially common in the eastern European people.

Conclusions: In pediatric patients with symptoms of myasthenia the differentiation between myasthenia gravis and congenital myasthenic syndrome is of great importance, because different therapeutical consequences may arise. Especially thymectomy is not at all effective in congenital myasthenic syndrome. The possibility of genetic investigations on molecular basis is a very precious tool in these cases.

Keywords: myasthenia gravis; congenital myasthenic syndrome