RESUMEN
Nemaline myopathy is a primary skeletal muscle disorder and one of the congenital myopathies. It can be caused by mutations in at least 12 genes, with the nebulin (NEB) gene being the most common. Here, we present the first case of a neonate with nemaline myopathy from Al-Qunfudhah, Saudi Arabia. A full-term baby boy was delivered via cesarean section due to decreased fetal movement. The baby was covered with a thick meconium stain. He was born with severe distress and underwent an endotracheal tube placement. The baby presented generalized muscle weakness, hypotonia, and areflexia. Examination revealed arthrogryposis, bilateral small chin, undescended testicle, joint deformity, hip dislocation, and clubfoot. Chest examination revealed conducting sound and bilateral equal air entry. Moreover, he experienced bilateral chest wheeze and conducting sound. All laboratory tests were normal, and whole-exome sequencing revealed pathogenic homozygous splice acceptor variant NEB gene c.8889+1GËA. The patient was first suspected to have spinal muscular atrophy as there was no previous nemaline myopathy case reported from Al-Qunfudhah. However, the typical symptoms and genetic sequencing confirmed his condition. As the society in Al-Qunfudhah is known for consanguinity, as in our case, clinicians should identify other types of myopathy as it is expected to occur in further cases.
RESUMEN
[This retracts the article DOI: 10.7759/cureus.18720.].
RESUMEN
A hernia is an abnormal protrusion of an organ or tissue from its containing cavity. Inguinal hernia is the most common type of abdominal hernias. The presence of the appendix within the inguinal hernial sac is a rare occurrence. We present the case of a 41-year-old man, with no previous surgical history, who presented to the emergency department with a right-sided painful groin swelling. The swelling was associated with nausea, vomiting, anorexia, and fever. Initial laboratory investigation revealed leukocytosis and elevated C-reactive protein and erythrocyte sedimentation rate. A computed tomography (CT) scan demonstrated the presence of an inflamed appendix with an inguinal hernia. The patient underwent laparoscopic repair of the hernia with appendectomy. The patient tolerated the procedure without any complications. Amyand hernia with acute appendicitis is a very rare surgical condition. Clinicians should have a high index of suspicion for Amyand hernia with appendicitis when they encounter a patient with groin mass with laboratory markers indicating an inflammatory process.
