Two compound heterozygous variants in the gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report.

Background: Neuronal Ceroid Lipofuscinosis (NCL) disorders, recognized as the primary cause of childhood dementia globally, constitute a spectrum of genetic abnormalities. CLN8, a subtype within NCL, is characterized by cognitive decline, motor impairment, and visual deterioration. This study focuses on an atypical case with congenital onset and a remarkably slow disease progression.

Spinal cord compression due to a solitary, bulky plasmacytoma of posterior mediastinum.

Solitary plasmacytoma is a rare clonal plasma cell tumor, representing 2-5% of plasma cell disorders. The standard treatment is local radiotherapy. However, in some cases, its use is limited by the size and/or location of the mass.