Tuberous Sclerosis
As a recently graduated Public Health Services Family
Physician, you are assigned to work in an under-served
area. In your duties attending an Obstetrics clinic you
have just completed an Ultrasound examination. The patient
is a 22-year-old at 20 weeks estimated gestational age.
On Ultrasound examination, you note an echogenic mass
within the fetal heart. The family history is not remarkable.
However, on physical examination of the pregnant patient
you note several white spots of the skin and abnormalities
of the fingernails. The patient tells you that she has
had occasional seizures but stopped her medication when
she found she was pregnant
With this group of signs and symptoms, you consider
the diagnosis of Tuberous Sclerosis (TS). Go to OMIM
– On-Line Mendelian Inheritance in Man to learn
about TS.
Go to OMIM:
- Search the OMIM database for:
Tuberous Sclerosis
- Look up clinical synopsis, text, genetic defect
and treatment of DS gene.
- Identify the inheritance pattern, the location
of the TS gene or genes, the clinical presentation
and the current recommendations for follow-up of these
patients.
To ascertain information about genetic testing for
Tuberous Sclerosis you choose an on-line resource (www.genetests.org).
What testing is available? What would you tell your
patient about the risk of recurrence in future pregnancies?
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