ABSTRACT
A rare neuromuscular condition known as congenital myasthenia gravis (CMG) affects some people from birth or very soon after. It results in fatigue and muscle weakness because of genetic abnormalities that interfere with the neuromuscular junction's ability to function, where the nerves and muscles connect. Even among those who have the same genetic mutation, the severity of CMG symptoms might differ considerably. The most typical signs of CMG include eyelid drooping, breathing issues, muscle weakness and weariness, and difficulties swallowing. Clinical examinations, neurophysiologic tests, and genetic analyses are frequently combined to make the diagnosis of CMG. Although there is no known treatment for CMG, many patients may control their symptoms and lead relatively normal lives with the right care. A newborn with CMG due to a DOK-7 gene mutation is described in this article, along with its very early onset. The DOK-7 mutation is a rare variant in the Indian population that causes CMG and usually manifests as 'limb girdle' weakness. However, due to muscle weakness, the neonate in this case developed severe respiratory distress and later died despite rigorous life-saving measures.
ABSTRACT
Extraskeletal Ewing sarcoma (EES) is a rare tumor of the soft tissue that looks the same as skeletal Ewing sarcoma (ES). A male in his 50s was diagnosed with extraskeletal Ewing sarcoma (EES) of the right shoulder, which had infiltrated the muscles around the shoulder joints. Although uncommon, all members of the ES family of tumors, including EES, were treated following the same general protocol for sarcoma tumors. Due to the significant tumor size in this patient and local invasion, wide local excision and a latissimus dorsi flap were required. This case highlighted the management of EES, including the surgical removal of the mass on the right shoulder, followed by chemotherapy, which led to a successful outcome.
