Fatal Neonatal Poliomyelitis

Citrullinaemia with rapidly fatal neonatal course.

a deficiency of argininosuccinate synthetase in liver and brain developed rapidly increasing apathy, respiratory insufficiency, and convulsions from the fourth day of life, and died on the seventh day. There was a profound derangement of amino acid concentrations in blood, CSF, and urine, with very high citrulline levels. This patient differs from other cases reported previously, both in her fu...

Fatal neonatal nemaline myopathy: a case report.

A fatal neonatal nemaline myopathy in a Japanese girl was described. The patient was hypotonic at birth and failed to establish effective respiration. Rod-like structures were observed within a variety of skeletal muscles, particularly in the diaphragm. This is the first case of fatal neonatal nemaline myopathy in which many satellite cells were observed.

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy.

Whole exome sequencing is a powerful tool to detect novel pathogenic mutations in patients with suspected mitochondrial disease. However, the interpretation of novel genetic variants is not always straightforward. Here, we present two siblings with a severe neonatal encephalopathy caused by complex V deficiency. The aim of this study was to uncover the underlying genetic defect using the combin...

Extralobar lung sequestration associated with fatal neonatal respiratory distress.

Fatal persistent pulmonary hypertension presenting late in the neonatal period.

Two cases of fatal idiopathic persistent pulmonary hypertension presented late in the neonatal period. Lungs were examined histologically by light and electron microscopy, and immunocytochemical studies were used to identify nerves. There was extension of medial smooth muscle distally along the arterial pathway so that most precapillary arteries had completely muscular walls, which in some case...