Distrophinopathy: a rare cause of elevated transaminase in newborn

Elavated transaminase levels are encountered in neonates and infancy because of several reasons. Muscular dystrophy is a rare hereditary disease compared to other disease causing elevation of transaminase. Some of them progress rapidly and result in death. Our case, who was born from a healthy non-relative marriage, delivered with NSD as term and weighed 3750g. Patient was admitted to the service with diagnosis of meconium aspiration syndrome and perinatal asphyxia due to being stained with meconium and having respiratory distress. The patient was examined because of elevated transaminase levels. There was no reason which could lead to elevation of transaminases derived from liver. We examined the patient in terms of myopathy because of the high level of creatinine kinase. Since the muscle biopsy was compatible with distrophinopathy, it was diagnosed as distrophinopathy. In children with prolonged transaminase levels, such clinical symptom may not be encountered. However, in these patients, it should be noted that rare myopathies may cause transaminase elevation. By reporting of this case we wanted to emphasize that determination of creatine kinase levels is important for early diagnosis

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

Atypical presentation of congenital lymphedema

Lymphedema, lymphatic fluid is due to an abnormal accumulation in the body in a regional body edema. Congenital lymphedema represents all forms that are clinically evident at birth and accounts for 10-25% of all primary lymphedema cases. The patient was born from consanguineous parents as the first child after two abortion and history of a child death at 14 month of age. On examination the patient had pitting edema at all extremities and abdomen. Lymphangiosintigraphy was performed and no lymph nodes were seen so hereditary primary lymphedema diagnosis was confirmed. Primarily, often caused by a congenital anomaly or dysfunction. As a secondary, acquired disorder is caused by lymphatic flow. Congenital lymphedema, occurs in the first weeks of life. After resolution of the edema the patient was malnourished and had feeding problems. In English literature, congenital lymphedema case with organomegaly, ascites and pitting generalized edema is rarely defined. We report this case because of its unique presentation

EBV-induced fulminant hepatic failure treated with liver transplantation

Viral hepatitis is the leading cause of fulminant hepatitis. Infectious mononucleosis caused by primary infection of EBV is a self-limiting lymphoproliferative disease, and shows concomitant clinical features such as pyrexia, cervical lymphadenopathy, liver dysfunction and hepatosplenomegaly. Even though approximately more than 90 percent of all humans are infected with EBV it rarely causes hepatitis and even if it does it is usually benign and it rarely causes hepatic failure in which the outcome has a high mortality rate. We report a case of fulminant hepatic failure in an immunocompetent 3.5 years old girl caused by primary EBV infection that was treated by orthotropic liver transplantation. This observation emphasizes that EBV must be known as a possible cause of fulminant hepatitis and that liver transplantation is probably the unique therapeutic option to avoid a usually fatal course