ABSTRACT
Muscular dystrophy is an inherited group of disorders that affects skeletal and many other systems. It is transferred to the next generations with autosomal recessive trait. Congenital muscular dystrophy is a rare disorder characterized by findings emerging from birth. There are 12 different forms of mutation according to defects. Fukuyama syndrome is a rare form of congenital muscular dystrophies in our country. There is FKTN gene mutation. Because it is a rare disease in Turkey, we find this case to be worthy of presentation. After the delivery, patients with recurrent convulsion and hypotonia were admitted to pediatric emergency department. Patients were diagnosed as Fukuyama congenital muscular dystrophy after evaluation based on clinical findings, imaging techniques and gene analysis. Congenital muscular dystrophy should be considered, whereas it is a group of disease in which hypotonia and recurrent convulsions are seen in early infancy period
ABSTRACT
Diagnosis of brucella infection may be difficult, because it can mimic many other diseases. We report a 57-year old man who had presented with the complaints of radiculopathy, and was diagnosed as cervical spondylodiscitis. The spondylodiscitis was diagnosed via rose bengal test, positive serology, and positive culture results after the initial suspicion with magnetic resonance imaging. Streptomycin for 14 days and doxycycline rifampicin for three months were used for the treatment. Brucellar spondylodiscitis in the cervical region is a rare presentation, beside that prognosis with early diagnosis and adequate treatment is good