Mystery Diagnosis: Cerebrotendinous Xanthomatosis

In the realm of medical mysteries, “Mystery Diagnosis” presents an episode that unravels the enigma of Cerebrotendinous Xanthomatosis (CTX). The narrative follows the journey of Ashley, whose chronic diarrhea as an infant evolved into a range of symptoms including ADHD and cataracts. Additionally, we encounter Nissa, an ER nurse who initially received a diagnosis of Lymphoma but later discovered the truth behind her illness through swelling in her hands.

Cerebrotendinous Xanthomatosis, also known as cerebral cholesterosis, belongs to a group of genetic disorders called the leukodystrophies. It is associated with mutations in the CYP27A1 gene located on chromosome 2q33-qter and is inherited in an autosomal recessive manner. This means that two copies of the defective gene, one inherited from each parent, are required to manifest the disorder.

The article sheds light on the genetics and cause of CTX, emphasizing its autosomal recessive inheritance pattern. While parents may carry one copy of the defective gene without experiencing symptoms, two copies are necessary for the disorder to manifest.

Treatment for CTX typically involves chenodeoxycholic acid (CDCA) replacement therapy, along with monitoring of serum cholesterol levels. In cases where hypercholesterolemia is not controlled with CDCA, HMG-CoA reductase inhibitors (commonly known as “statins”) like simvastatin may be used as an additional treatment approach.

Prepare to be captivated by the stories of Ashley and Nissa as they navigate the complexities of CTX and receive life-altering diagnoses. Gain insights into the cause, genetics, and available treatment options for this rare disorder. The episode serves as a poignant reminder of the resilience of individuals facing medical challenges and the importance of early and accurate diagnosis.