How Lumps on a Man's Heels Signaled a Rare Disease in His Brain

livescience.com | 10/22/2019 | Rachael Rettner - Senior Writer
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Problems with the Achilles tendon, the thick band of tissue that connects the calf muscles to the heel bone, typically don't signal a brain condition. But for one man in China, lumps on the Achilles tendon were an early sign of a serious metabolic disease that affected his brain.

The 27-year-old man was hospitalized after he developed neurological symptoms, including a change in his personality, according to a report of the case, published yesterday (Oct. 21) in the journal JAMA Neurology. He became irritable and hyperactive and had problems with his memory, according to the authors, from The First Affiliated Hospital of Chongqing Medical University in Chongqing, China.

Years - Hospitalization - Man - Eyes - Lethargy

Two years before his hospitalization, the man developed glassy eyes and lethargy, and about a decade ago, he developed painless masses on both his Achilles tendons that were 2 inches (5 centimeters) in diameter, the report said.

At his hospitalization, doctors at Chongqing Medical University noticed that the man still had painless lumps on both his Achilles tendons, but the lumps were now larger, about 3 inches (8 cm) in diameter. He also had trouble maintaining balance while walking in a straight line.

Lab - Tests - Levels - Fat - Blood

Lab tests additionally revealed that the levels of fat in his blood, called triglycerides, were unusually high — more than double the normal level.

An MRI of his ankles showed enlargement of his Achilles tendons, and an MRI of his brain also showed abnormalities, the report said.

Test - Man - Diagnosis - Xanthomatosis - Condition

A genetic test finally led to the man's diagnosis: He had cerebrotendinous xanthomatosis, a rare genetic condition in which a person's body cannot effectively break down fats such as cholesterol, according to the National Institutes of Health (NIH)'s Genetic and Rare Diseases Information Center (GARD). This leads to...
(Excerpt) Read more at: livescience.com
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