NOV 17, 2017 9:22 AM PST

Diagnosed: Prader-Willi Syndrome Behind this Baby's Shocking Size?

WRITTEN BY: Xuan Pham

Image Credit: AFP/Getty Images

At only 10-months-old, Luis Manuel Gonzalez, weighs in at 62 pounds (28 kilograms), or roughly the equivalent of an average 9-year-old child. Doctors are working to uncover the cause, and some speculate that a genetic condition is behind his unusual growth spurt.

At birth, Luis weighed in at around 8 pounds, with no hint of any abnormalities. But it was soon apparent that something was amiss.

At 1-month, Luis was already wearing clothes intended for 2-year-old children. “After only one month we noticed that clothes did not fit him and we had to dress him in clothes for a one-year-old, and even a two-year-old,” said Isabel Pantoja, 24, Luis’ mother, from Colima Mexico.

By two months, Luis gained nearly three times his birth weight, tipping the scale at 22 pounds.

“We saw our baby gain weight so fast. Sometimes, he could not sleep because he felt like he was suffocating due to his weight,” said Mrs. Pantoja.

The family began seriously seeking medical help when they realized Luis, the baby in the family, was quickly outgrowing and dwarfing his three-year-old brother in size.

Luis is now undergoing a series of genetic and hormone tests to pinpoint the cause of his condition. The results aren’t confirmed, but some doctors suspect Luis may have a form of Prader-Willi syndrome.

In about 70 percent of cases, Prader-Willi syndrome (PWS) is caused by the deletion of several genes located on chromosome 15. Among the biological consequences of this deletion are changes to the patient’s metabolism. Specifically, PWS patients experience a dysregulation of their hunger drive, causing them to feel a constant sense of hunger and never feeling satiated. This typically puts PWS patients at risk for obesity and type 2 diabetes at a very young age.

But a PWS diagnosis doesn’t fit with Luis’ story perfectly. The constant hunger and overeating associated with PWS usually occurs at around 2 years of age. Meanwhile, Luis is still two months shy of his first birthday. In addition, his mom reports that Luis takes in a normal amount of food, and doesn’t usually ask for more than typical for a boy his age. These details suggest a more intricate story behind Luis’ extraordinary size.

As the family is struggling to find answers, they’re asking for help. “In some cases, kids have died because of a heart attack due to being so overweight. All help given for him, small or big, is good for him,” said Mario Gonzalez, Luis’ father. The family plans to set up a bank account to receive donations.

Additional sources: Daily Mail, NY Post

About the Author
  • I am a human geneticist, passionate about telling stories to make science more engaging and approachable. Find more of my writing at the Hopkins BioMedical Odyssey blog and at TheGeneTwist.com.
You May Also Like
OCT 29, 2020
Clinical & Molecular DX
More Frequent Trips to the Pediatrician Linked to a Future Autism Diagnosis
OCT 29, 2020
More Frequent Trips to the Pediatrician Linked to a Future Autism Diagnosis
 
NOV 26, 2020
Clinical & Molecular DX
Routine Diagnostic Tests Linked to a 59 Percent Increase in Testicular Cancer Risk
NOV 26, 2020
Routine Diagnostic Tests Linked to a 59 Percent Increase in Testicular Cancer Risk
New research has revealed that exposure to radiation from diagnostic procedures such as X-rays could contribute to an el ...
DEC 30, 2020
Clinical & Molecular DX
Of Mice and Men: Deep Learning Transforms Diagnostics
DEC 30, 2020
Of Mice and Men: Deep Learning Transforms Diagnostics
Medical imaging technologies enable physicians to take a peek under the hood, capturing snapshots of the internal organs ...
JAN 27, 2021
Clinical & Molecular DX
No Pain, All the Diagnostic Gain
JAN 27, 2021
No Pain, All the Diagnostic Gain
A recent study published in Nature Biomedical Engineering describes new microneedle patch technology that takes the &ldq ...
FEB 03, 2021
Clinical & Molecular DX
New Panel of Arthritis Biomarkers Diagnoses Disease With 93.2% Accuracy
FEB 03, 2021
New Panel of Arthritis Biomarkers Diagnoses Disease With 93.2% Accuracy
Rheumatoid arthritis, or RA, is a painful and debilitating autoimmune disorder of the joints, particularly those of the ...
FEB 23, 2021
Clinical & Molecular DX
Dogs Versus AI-Powered Diagnostic Devices-Who Won?
FEB 23, 2021
Dogs Versus AI-Powered Diagnostic Devices-Who Won?
We’ve heard of dogs sniffing out cancer—an unsurprising skill given that they have over 200 million scent re ...
Loading Comments...