Alexis Presutti was barely able to bend her right knee. The 19-year-old
walked with a pronounced limp, and suffered from chronic pain due to several
tumors behind the knee and along her leg on her femur and tibia. The tumors
also compressed her nerves and affected her blood flow. Her life has been
a daily ritual of pain, limited motion and functionality since she was
a young child.
Presutti suffers from a rare bone disease called Multiple Osteochrondomatosis
(MO), also commonly known as Multiple Hereditary Exostosis (MHE). This
disease occurs mostly in children, and causes spurs or boney tumors to
develop on the child’s bones. These non-cancerous tumors develop
with their own cartilage, and they grow outward from the metaphyses or
“growth plates” of the child’s longer bones, such as
the bones in the legs. The severity of the disease varies widely from
person to person. Some may have just a small amount of tumors, but most
people with this condition develop many more, some in the hundreds.
MHE is a mostly genetic disorder that affects one out of every 50,000 people.
It is a “genetic autosomal dominant” hereditary disorder,
which means that a person with MHE has a 50% chance or passing this on
to his or her children. Although this is mostly congenital disease, roughly
10%-20% of the people who have it developed it via a spontaneous mutation.
These tumors can cause numerous problems, including nerve and blood vessel
compression; irritation of tendons or muscles, which result in pain and
limitation of motion; skeletal deformity; short stature; limb length discrepancy;
chronic fatigue; and arthritis. There is also a 2%-5% risk over a lifetime
that the tumors would eventually turn malignant.
Presutti and her family came to Dr. Harish Hosalkar, an orthopedic surgeon
based in San Diego and affiliated with the San Diego Spine & Joint
Center at Paradise Valley Hospital. Dr. Hosalkar also sits on the scientific
and advisory board of the national MHE Research Foundation, and he has
over 20 years of experience treating patients who have suffered from MO/MHE.
He performed complex tumor excision and reconstructive surgery on Presutti
that lasted several hours, carefully removing all of her tumors while
protecting her nerves, arteries, veins and muscles. Her later recovery
at the Spine & Joint Center included extensive physical therapy and
A few months later, as a result of her care under Dr. Hosalkar, Presutti
is now moving with significant improvement in mobility and function, virtually
pain-free and without the need for braces or orthotic aids. Her gait has
been normalized, and she has a virtual full-range of motion in her knee
with no instability.
“Alexis’s trust in Dr. Hosalkar is complete and unquestioned,”
said Presutti’s mother Veronica Starback. “His mere presence
calmed Alexis down before the surgery. That meant so much to me as a parent.”
Starback added, “In our humble opinion, Dr. Hosalkar and his team
at the San Diego Spine & Joint Center represent what should be the
standard for patient care.”