Mitochondrial disorders

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Mitochondrial disorders

Last updated on Tuesday, September 9 2008 by jdmiles

Related images:

Necrosis of gray and white matter, coronal section
Patients with mitochondrial mutations often demonstrate nonspecific central nervous system pathology related to defects and energy metabolism.

Leigh's disease, coronal section through basal ganglia
Bilateral degenerative changes within deep gray structures characterizes Leigh syndrome.

Leigh syndrome, transverse section through midbrain
Severe degenerative changes within midbrain tectum and tegmentum are characteristic of defects in energy metabolism, including Leigh and Wernicke syndromes.

Leigh syndrome, coronal section through thalamus
Bilateral cavitation of red nuclei.

Medullary tegmental necrosis, transverse section of medulla
Brainstem tegmental necrosis is a relatively nonspecific pattern of central nervous system degeneration in patients with disorders of energy metabolism.

Kearns-Sayre syndrome, high power H&E stained section of substantia nigra
The classic histopathologic features of mitochondrial central nervous system disease include degeneration of neuropil with prominent dilated capillary blood vessels and morphologic preservation of neuronal cell bodies (distinguishing the lesions from simple ischemic necrosis).

Kearns-Sayre syndrome, H&E stain section of substantia nigra x 100
Mitochondrial encephalopathies are characterized by symmetric, sharply circumscribed lesions affecting susceptible brain regions.

Kearns-Sayre syndrome, H&E section of substantia nigra x 200
Mitochondrial encephalopathies are characterized by symmetric, sharply circumscribed lesions affecting susceptible brain regions. The classic histopathologic features of mitochondrial central nervous system disease include degeneration of neuropil with prominent...