The man
developed lumps on his Achilles tendon a decade before he was hospitalized for
neurological problems.
Lumps on a
man's Achilles tendon were an early sign of a serious metabolic disease, called
cerebrotendinous xanthomatosis, that also affects the brain. Above, MRIs of the
patient's brain (A) and ankle (B). The arrowhead in image B points to an
enlargement on the patient's Achilles tendon that tapers at the end.
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.
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
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.
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 the
development of fatty growths, called xanthomas, in the body, especially in the
brain and tendons.
The
condition often causes progressive neurological problems, including dementia
and difficulty with movement, as well as behavioral changes, including
agitation, aggression and depression. It can also cause cataracts and mental
impairment, GARD says.
The disorder
is caused by mutations in a gene called CYP27A1, which produces an enzyme
involved in breaking down cholesterol, according to the NIH. This condition is
estimated to affect about 1 in a million people worldwide, the NIH says.
Some
symptoms can appear as early as infancy or childhood, but the signs are often
missed or patients are given the wrong diagnosis; as a result, the true
diagnosis can be delayed up to 25 years, the report said.
The
condition is often treated with a medication called chenodeoxycholic acid
(CDCA), which can reduce cholesterol levels. However, even with treatment, patients'
neurological symptoms often worsen over time, the authors of the case report
said.
In the
current case, the man experienced some improvement in his glassy eyes after 18
months of treatment and the size of his brain lesions also decreased slightly,
the report said. But his symptoms of agitation and hyperactivity remained the
same, and he is now bedridden and unable to care for himself, the report's
authors said.
They
concluded that "early diagnosis and intervention are key factors" in
the outlook for patients with cerebrotendinous xanthomatosis.
Source: https://www.livescience.com/heel-tendon-brain-lumps.html
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