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A 5 y.o. boy was brought to the Emergency Room because he had an apparent
seizure. He had a history of slow developmental milestones and was felt
to be mentally retarded for his age. He was in a special education class
rather than kindergarden. He had walked at 20 months and began speaking
at the age of 30 months. He had been in his usual state of health until
dinner on the day of admission. He had sat down at the table, uttered a
cry and fell to the floor. His parents rushed to his side and noted that
his eyes were "rolled up", he was shaking and foaming at the mouth. The
shaking lasted about one minute. Afterwards, he was noted to be incontinent
of urine and was difficult to arouse for about 15 minutes. By the time
the family reached the emergency room, the child seemed to be back to his
baseline level of functioning.
On examination, the child appeared normal and had a normal neurological
examination. Several pink papular nodules were noted on his cheeks. Using
a Wood's lamp, numerous hypopigmented oval patches were noted on his trunk
and extremites.
Questions:
- Name the neurocutaneous diseases.
- Predict the CT findings in the this child.
- What is known about the underlying genetic abnormality
in the condition underlying this child's symptoms and signs?
- What would you recommend to the child's pediatrician
about further work-up?
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