Transcript Case Study 10

Case Study 10
Harry Kellermier, M.D.
Question 1
The patient is a 27-year-old female with a history of
complex partial seizures starting at age 16. A typical
episode lasts less than one minute and consists of her
staring blankly ahead and occasionally jerking her
hand. She is usually disoriented after the episodes.
An MRI is performed. What type of MRI sequence is
this?
Answer
T2 FLAIR
Question 2
Describe the MRI.
Answer
There are multiple subcortical foci of increased T2 signal
intensity (2 on the left, 1 on the right).
Question 3
After reviewing additional history on this patient, you learn
she has a renal tumor, flat, brown marks on her skin, and
red bumps on her nose and cheeks. What genetic
disorder should you suspect?
Answer
Tuberous sclerosis. The flat brown marks are most likely
cafe-au-lait spots, the red bumps on her nose and cheeks
are facial angiofibromas (adenoma sebaceum), and the
renal tumor is probably an angiomyolipoma.
Question 4
The patient then undergoes cortical mapping and excision
of her epileptogenic focus, yielding the following
specimen. What CNS findings are associated with
tuberous sclerosis?
Answer
Tubers, epilepsy, heterotopias, subependymal nodules,
and subependymal giant cell astrocytoma.
Question 5
What are tubers and how do they appear grossly and
histologically?
Answer
Tubers are thought to represent areas of
abnormal neuronal migration. Grossly, they
appear as firm nodules projecting above the
surface of the brain. They range in size from
millimeters to several centimeters and are pale in
color. Microscopically, the normal cortical
architecture is disrupted by large, bizarre cells
with prominent nucleoli. These cells possess
short, thick cytoplasmic processes and may
exhibit single or multiple nucleoli. Associated
with these cells is astrogliosis, loss of myelin, and
occasional calcification.
Question 6
What is the name of the characteristic cell found in
tubers?
Answer
Balloon cells. They express both glial and neuronal
characteristics.
Question 7
Describe the histologic findings.
Click the following links to view slides: H&E, Vimentin
Answer
There is a focus within the subcortical white matter
showing proliferation of balloon cells and
gliosis. Rosenthal fibers are seen. The surrounding white
matter also appears gliotic and pale. Subpial gliosis is
also noted. Vimentin immunostains highlight the balloon
cells and reactive astrocytes.
Question 8
What is the most commonly affected organ in tuberous
sclerosis?
Answer
The brain.
Question 9
What genetic mutations have been linked to tuberous
sclerosis?
Answer
Mutations in the gene encoding the protein hamartin at
9p34 and the gene encoding the protein tuberin at
16p13.3.
Question 10
What are some other systemic manifestations of tuberous
sclerosis?
Answer
Angiomyolipoma, renal cysts, pulmonary
lymphangioleiomyomatosis, cardiac rhabdomyomas,
facial angiofibromas, cafe-au-lait spots, ungual or
subungual fibroms, ash leaf spots, forehead plaques,
ocular astrocytic hamartomas, colobomas, papilledema.
Question 11
What is the other name for subpial gliosis associated with
epilepsy?
Answer
Chaslin's gliosis