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Congenital Hypothyroidism
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Preventing mental retardation:
A Look at Cases of Untreated Congenital Hypothyroidism
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By Riva Kamat, MD – CoverMD Senior Contributing Editor
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Summary
Congenital hypothyroidism is the leading cause of preventable mental retardation
in the world. In this article, Dr. Kamat examines cases of untreated congenital
hypothyroidism and highlights some important take home points for Clinical Practitioners.
Failure to treat congenital hypothyroidism constitutes medical negligence.
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Baby Janie
Immediately after bringing home her baby, Mrs. Smith began noticing signs of excessively
sleepiness, decreased feeding and poor weight gain in Janie. She knew something
was wrong but could not figure out exactly what caused her child to have issues.
She went to see her family doctor seven times in the next eight weeks. He did x-rays
and changed formulas but nothing was helping.
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Mrs. Smith would notice that Janie would be sleeping twenty three hours per day
and would not awaken to feed. Janie would not have bowel movements and glycerin
suppositories did not help her. At two months age, her doctor finally looked through
Janie’s chart and noted her thyroid levels were low. He asked that Janie get repeat
thyroid labs and told mom that the results would be back in two or three days. He
would refer her to an endocrinologist if the labs were abnormal.
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That night Janie got worse and would not feed. Her mom went home and began researching
hypothyroidism on the internet. She began calling endocrinologists herself, only
to be told by the receptionist that there was a 2-3 month wait time to be seen.
Finally she spoke directly to an endocrinologist who listened to her story and then
advised her to immediately go to the nearest pediatric hospital. Little Janie had
congenital hypothyroidism which had not been treated for eight weeks. When she arrived
at the hospital her blood sugar was low and she was well below her height, weight
and head circumference for her age. Her doctor’s office had been notified three
times by certified letter from the Virginia newborn state screening program about
her abnormal thyroid screen. The paperwork was filed away in Janie’s chart. Her
doctor never appreciated the dire clinical significance of the lab results as it
related to his patient.
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Baby Samantha
In Illinois, little Samantha Lewis was born five years earlier and began exhibiting
classic signs of congenital hypothyroidism. Her doctor did not make the connection
between signs of congenital hypothyroidism and her failure to thrive. The hospital
had lost the sample from the newborn screen and never retested the babies whose
samples had been lost.
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Both girls went on to have developmental delays. Janie is five years old and has
slight delays in preschool. Samantha is eleven years old and was not so lucky. She
has the cognitive abilities of a 3 year old child. Both girls will be on Levo-thyroxine
(thyroid hormone) for the rest of their lives.
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Samantha’s parents were recently awarded a 4.8 million dollar settlement after suing
the hospital system and the Smith family went on to settle for an undisclosed amount
with their family practice doctor.
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Mr. Michael Corrigan with The Padberg and Corrigan Law Firm settled the case
for the Lewis family. He states that changes have been made in the Illinois Newborn
Screening Program. Due to this case, there is better tracking of the samples. There
is also improved communication with the hospital, primary medical doctor and the
state lab that does the newborn screening.
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Take Home Points for the Clinical Practitioners:
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1. Children are not little adults
While adults can go weeks without being treated for hypothyroidism, children with
congenital hypothyroidism must be seen emergently by a pediatric endocrinologist.
The American Academy of Pediatrics recommends beginning treatment with levo-thyroxine
immediately while waiting for the follow up tests. Essential vital organ function
depends on a working thyroid system.
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2. Congenital hypothyroidism is the leading cause of preventable mental retardation
in the world
In North America, five million newborns are tested through the newborn screening
program. About 1,400 babies are identified with abnormal thyroid screens. Children
must be treated within two to three weeks to prevent signs of significant developmental
delay and mental retardation. Children treated after three months of age are likely
to have mental retardation.
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3. Communicate results of important lab results with your practitioners
Make sure your office staff had a fail-safe system to communicate results of important
lab results with your practitioners. If the receptionist receives a certified letter
from the newborn screening program in your state, make sure she knows exactly who
to give the letter to, whether it is a nurse, nurse practitioner or a doctor. Make
sure the people who are reviewing the labs know the significance of the results.
Mr. Tom Williamson, of the Williamson Petty LC, Law Firm who settled the Smith case
states that in his client’s case, there was a clerical malfeasance. He advises that
all pediatricians and family practice doctors must have a proper fail safe system
in place. Each doctor’s office needs to have a proper system in place to get the
results to the right person. Mr. Williamson says,” Practitioners must have a clinical
knowledge of the disease and understand that there are false positive and false
negative results.”
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4. Failure to treat congenital hypothyroidism constitutes medical negligence
For clinicians who fail to treat congenital hypothyroidism, this constitutes medical
negligence. This will immediately put clinicians and hospital systems at risk for
medical malpractice suits. These suits are avoidable with a good communication system
in place.
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Conclusion
In conclusion, children and the families of these children suffer when congenital
hypothyroidism is not treated properly. Years of physical therapy, occupational
therapy, early intervention from school and sleepless nights will follow families
for years to come. This outcome is perfectly preventable and should be avoided at
all costs.
For further information, please see the American Academy of Pediatrics statement
recommended guidelines for congenital hypothyroidism:
http://aappolicy.aappublications.org/cgi/reprint/pediatrics;91/6/1203.pdf
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About the Author
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Dr. Riva Kamat
Dr. Riva Kamat is a board certified pediatrician who practices pediatric hospital
medicine. She is a pediatric inpatient hospitalist at Inova Fairfax Hospital for
Children in Falls Church, Virginia. In addition, she consults and advises law firms
on medical malpractice cases involving pediatric and adolescent medicine. A long
standing member of the American Academy of Pediatrics, she is the past president
of the Northern Virginia Pediatric Society. Working in inner city clinics in Pittsburgh
and as an outpatient pediatrician at Kaiser Permanente has given her a wide range
of clinical pediatrics.
Dr. Kamat is an Assistant Professor at the Georgetown School of Medicine and Clinical
Instructor for the Virginia Commonwealth University School of Medicine. She enjoys
teaching medical students and residents using medical photography.
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Disclaimer
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