The answer to yesterday’s mystery is … Niemann-Pick disease type C! Impressive diagnosing Ashley, Gracie287, myra, ColorMaven, GetAClue, Scott, Angelita, Dave, and Nicole.
Niemann-Pick disease type C (NP-C) is an inherited metabolic disorder that affects children. It a lysosomal storage disease, caused by abnormal processing of cholesterol within cells. Cholesterol builds up in massive amounts and interferes with cell function in the brain and other tissues. NP-C has been called ‘childhood dementia’ because of its devastating effects on patients’ neurological functioning. Patients with this disease can present with a wide array of problems, including loss of previously acquired developmental milestones, clumsiness, slurred or little production of speech, abnormal eye movements, and more. Our patient also had an enlarged liver and spleen where the excess cholesterol has accumulated. The cell that was shown is called a “foam cell,” packed full of cholesterol.
Unfortunately, NP-C has no cure. Though there are some treatments under investigation, patients with NP-C usually pass away before they reach school age. The reader who suggested that I feature this devastating condition has a personal connection with Niemann-Pick; she has graciously permitted me to share her family’s story here. Another family’s story can be seen below – they sadly have two children with this terrible disease.