Fukuyama congenital muscular dystrophy

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

youngest patient of lupus vulgaris; a cutaneous tuberculosis case report

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

Vaginal perforation caused by distal tip of ventriculoperitoneal shunt: report of a rare complication

Ventriculoperitoneal [VP] shunt is commonly employed in the management of hydrocephalus. Various complications such as dissection or migration may develop besides shunt malfunction. Migration may occur into the lateral ventricle mediastinum, gastrointestinal tract, abdominal wall, bladder, vagina, or scrotum. Although vaginal penetration is rare, we present a case of migration of the peritoneal catheter out of the vagina

Role of proper physical examination in diagnosis of cutaneous manifestation [erythema nodosum] of primary tuberculosis

Erythema nodosum [EN], which is a rare skin manifestation among children, is associated with a wide variety of disease processes. Here a 10 year old female patient with EN is presented. She was initially suspected to have coagulation abnormality by many physicians. She was diagnosed to have primary tuberculosis. This paper stresses the importance of proper physical examination in cutaneous lesions and of ruling out primary tuberculosis in endemic countries in children presenting with EN

Spontaneous pneumomediastinum associated with subcutaneous emphysema causing brachial plexus palsy in a term newborn

Neonatal pneumomediastinum is a rare condition which often occurs during the setting of assisted ventilation of premature or diseased lungs. Brachial palsy occurs in presence of impression on cervical and throcal nerve roots due to birth-related trauma. In this case; we present a progressive spontaneous pneumomediastinum. Although subcutaneous emphysema was involving the whole neck, right cervical region was predominantly involved. Even though there was no diagnosed brachial palsy just after delivery, in time, we realized that the right arm was affected. In the literature, we couldn't find any reported case of spontaneous pneumomediastinum associated with subcutaneous emphysema causing brachial plexus palsy in neonatal period