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A 53-year-old male with
clumsiness
Leonidas Arvanitis, M.D.
Neuropathology Fellow, PGY-6
History
• The patient was a 53 year male with a 10 year
history of clumsiness
• He initially presented with deterioration of his
singing voice, clumsiness of his left hand,
incoordination and spastic reflexes.
• The patient had no history of drug abuse or
environmental exposure.
• An MRI of the brain was normal, but a cervical
MRI revealed a small syrinx below C6-7.
History
• His symptoms progressed, notable for masked
facies, increased muscle upper extremity muscle
tone, and poor gait and arm.
• One year before death the patient was also
noted to have dementia, the latter manifesting in
cognitive difficulty, paranoia, and delusions, but
improving with medications.
Autopsy
• An autopsy was performed and showed
the following (describe midbrain section):
Our case
Normal control
http://library.med.utah.edu/WebPa
th/CNSHTML/CNS102.html
Autopsy
Our case
Normal control
Marked pallor of
substantia nigra
http://library.med.utah.edu/WebPa
th/CNSHTML/CNS102.html
This is a section from the
midbrain. What do you see?
Midbrain. (Click here for H&E)
This is a section from the
midbrain. What do you see?
Midbrain. (Click here for H&E)
This is a section from the
midbrain. What do you see?
Midbrain. (Click here for H&E)
Eosinophilic cytoplasmic
inclusions
Decreased numbers of
pigmented neurons
This is a section from the
midbrain. What do you see?
Midbrain. (Click here for H&E)
Pigmented-laden macrophages
Reactive gliosis
Question:
• The intracytoplasmic neuronal inclusions
are known as …
Answer
• …Lewy bodies
Question:
• Which immunohistochemical stain
highlights the Lewy bodies?
Answer
• A-synuclein
– Click here to view stain
Lewy bodies (a-synuclein)
Question
• What is the diagnosis?
Answer
• Parkinson’s disease
Question
• What is the most common cause of
Parkinson’s disease?
Answer
• Most cases are sporadic of unknown
etiology
• Environmental factors such as toxic
exposure, infection or lifestyle have been
proposed
Question
• Are there any gene mutations linked to
Parkinson's disease?
Answer
• Yes. Autosomal dominant and recessive
mutations
– Autosomal dominant include PARK1 point
mutation in a-synuclein gene and PARK5
point mutation in ubiquitin carboxyterminal
hydrolase-L1 (UCH-L1)
– Autosomal recessive include PARK2 mutation
in the parkin gene
http://neurowiki2013.wdfiles.com/local-files/individual%3Agenetic-etiology-ofparkinson-s-disease/img2.JPG