{Reference Type}: Case Reports
{Title}: Neonatal Schwartz-Jampel syndrome type II: a rare case of peripheral origin of neonatal hypertonia.
{Author}: Verma A;Banait N;Suryawanshi P;Garegrat R;
{Journal}: BMJ Case Rep
{Volume}: 14
{Issue}: 7
{Year}: Jul 2021 12
暂无{DOI}: 10.1136/bcr-2020-240397
{Abstract}: Neonatal Schwartz-Jampel syndrome type II is a rare and severe form of genetic disorder. Different from the classical appearance in infancy, neonatal presentation involves respiratory and feeding difficulties, along with characteristic pursed appearance of the mouth, myotonia, skeletal dysplasia and severe fatal hyperthermia. The clinical spectrum of this syndrome is so wide that it easily baffles with more common differentials. In this case report, a neonate born to third-degree consanguineous marriage with previous two abortions presented with respiratory difficulty, severe hyperthermia and feeding difficulty, which were daunting challenges to manage due to being refractory to standard line of management. Severe myotonia and gross dysmorphism were challenging dots to connect. Targeted exome sequencing was a ray of hope, which revealed homozygous mutation in the leukaemia inhibitory factor receptor gene on chromosome 5p13, confirming the genetic diagnosis for a fairly common spectrum of symptoms. The neonate later developed pneumoperitoneum and succumbed to underlying severe neonatal illness.