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
Tuberculosis, which may involve most organs, is still a major health problem in developing countries. Despite a high and increasing frequency of tuberculosis, cutaneous tuberculosis [CT] is an uncommon form. CT may develop due to Mycobacterium tuberculosis, Mycobacterium bovis, and the Bacille Calmette-Guerin [BCG]. CT may have various clinical forms. The most frequent form of CT is lupus vulgaris [LV]. LV originates from inactive tuberculosis focus in the body and spreads by hematogenous or lymphatic way and by direct or exogenous inoculation. A diagnosis of LV was made based on clinical and histopathological examination. The lesions regressed after treatment with 3 antituberculous drugs. CT must be considered in cases with chronic skin lesions because tuberculosis prevalence is high in our country. Early diagnosis and treatment of patients with CT is extremely important in order to prevent complications. We report, to the best of our knowledge, the youngest CT affecting case