Wilson's Disease Manifestation in Late Adulthood: A Case Report and Literature Review.

Wilson's disease is a rare inherited condition that results in an excessive copper buildup in various organs, especially the liver, brain, and other vital organs, leading to cirrhosis, liver failure, neurological problems like involuntary movements, clumsy gait, speech difficulties, and psychological issues, in addition to other symptoms. It is an ATP7B gene mutation-driven autosomal recessive condition. Although the condition is present from birth, symptoms often start to show up between the ages of five and 35, when the body has accumulated enough copper. Wilson's disease may become fatal if an excessive amount of copper is accumulated in the body. It is treatable and has a good prognosis if diagnosed early. Early identification, however, is not always straightforward since symptoms might resemble those of other diseases and develop later in life when copper is absorbed by food and drink and gradually accumulates in the body's many organs. In addition to medicine, physicians advise people with Wilson's disease to avoid foods and beverages containing copper. Our patient was diagnosed with Wilson's disease at the age of 16 and was on Cuprimine which helped her to survive. Her younger sister was diagnosed at an early age and was started on a treatment regimen, which is why her sister's manifestation of Wilson's disease was less severe than hers.

Li-Fraumeni Syndrome: A Rare Genetic Disorder.

Li-Fraumeni syndrome (LFS) is an inherited genetic condition that makes individuals predisposed to specific types of cancer. As a result, cancer risk can be passed down from generation to generation. TP53 is the genetic blueprint for a protein called p53 and most commonly causes this condition by mutations or alterations in that gene. Mutations prevent the gene from functioning properly. LFS is associated with TP53 gene mutations in approximately 70% of families. Most patients with LFS have one normal copy of TP53 and one mutated copy of TP53, usually inherited from a parent with the condition. This is a case report of a 40-year-old female who underwent genetic testing to determine her p53 mutation status. Her mother was diagnosed with breast cancer at a young age, despite the fact that her brothers and sisters' genetic tests came out normal. The genetic testing showed her as a carrier for the TP53 gene mutation. Despite the fact that she had no signs or symptoms of any linked tumors associated with the condition, she was diagnosed with LFS.