Case Study: Rett Syndrome
Emma Perdue
Dr. Parrish
April 29, 2015
On October 29, 2014, a 12 month old, female patient, Alex, was admitted into the
hospital. She had a prior medical history of having seizures from the time she was 10
months old. The symptoms she was admitted for on October 29 included: mild scoliosis
(curvature in the lower spine), involuntary clapping of the hands, inability to sleep
through the night, and a recent disinterest in playing with toys (www.ghr.nih.gov). The
mom identified all of the symptoms before coming into the hospital.
Considering the demonstrated symptoms, the patient’s age and gender, there were
three potential diagnoses. The first is autism because all of the patient’s demonstrated
symptoms match the symptoms of autism, especially the patient’s disinterest in
surroundings. The only problem with autism as a diagnosis is that autism is not generally
noticed until later in life (www.chidlrenshospital.org). The second potential diagnosis is
Cerebral Palsy because of the seizures and loss of motor development (including
involuntary clapping). But unless Alex had a very severe case of Cerebral Palsy, she
would not typically show symptoms until later in life. The third diagnosis is Rett
Syndrome because all of the symptoms match, it is most typically found in females, and
the symptoms become noticeable between 6 to 10 months (www.mayoclinic.org).
After the diagnoses were discussed, blood tests were conducted to definitively
diagnose Alex. A blood sample was taken and observed in a lab to show for a mutation in
the MECP2 gene (www.mayoclinic.org). If the blood sample did come back positive for
a mutation, Alex would be diagnosed with Rett Syndrome. Even sometimes, though,
children with Rett Syndrome do not show positive for a mutation through a blood sample,
so her blood was also tested for abnormalities that may lead to autism. Her blood sample
did come back positive for a mutation in the MECP2 gene, so Alex was diagnosed with
Rett syndrome. The complete list of symptoms for Rett Syndrome include: slowed
growth (especially in the head), loss of normal motor skills, breathing problems, seizures,
constipation, irregular heartbeat, and abnormal hand movements (www.mayoclinic.org).
In addition to the blood sample, Alex was diagnosed with Rett Syndrome because she
displayed many of the symptoms of Rett Syndrome that are typically displayed in girls
her age.
Rett Syndrome is caused by a mutation in the MECP2 gene, which controls the
making of the MeCP2 protein. The MeCP2 protein regulates brain function by
controlling synapses between nerve cells and regulates genes found in the brain. Once the
synapses are compromised, it is difficult to effectively communicate normally, leading to
certain symptoms of Rett Syndrome, like disinterest in surroundings (ghr.nlm.nih.gov).
Rett Syndrome is not typically a mutation that in inherited from the parents. Only
about 1% of Rett Syndrome patients inherit the disease. In Alex’s case, she did not inherit
the disease because there is no history of it in the family (ghr.nlm.nih.gov).
Rett Syndrome is found in 1 of 8,500 girls. The disease affects every race but
almost exclusively females. Males born with the mutation usually do not live through
infancy (ghr.nlm.nih.gov).
There are no current cures for Rett Syndrome. There are treatments such as
medication for seizures and muscle problems, like Depakote (www.mayoclinic.org).
Depakote is recommended for children with seizures because it is only one pill in
comparison to much other medication, which requires many pills. Physical therapy and
speech therapy are also suggested for patients with scoliosis and loss of speech
(www.mayoclinic.org).
Because of her symptoms, Alex was suggested to take up physical therapy for her
scoliosis. If her speech worsens or does not develop at all, then speech therapy is advised
as well. Depakote was prescribed to aid with the seizures, and Alex is asked to come back
if seizures worsen or if she develops a rash after taking the medicine
(www.mayoclinic.org).
There are clinical trails running now through the Rett Syndrome Research Trust to
try and reverse the cause of Ret Syndrome. The trails include gene therapy, an attempt to
activate the MECP2 gene on the (now) silent X chromosome, and the use of the modifier
genes (www.rsrt.org).
References
http://cerebralpalsy.org/about-cerebral-palsy/sign-and-symptoms
http://www.childrenshospital.org/conditions-and-treatments/conditions/rett-syndrome
http://ghr.nlm.nih.gov/condition/rett-syndrome
http://www.mayoclinic.org/diseases-conditions/rett-syndrome/basics/symptoms/con20028086
http://www.rsrt.org/research/our-projects/
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knowingly tolerated any violation of the Honor Code.