|Reference||Patient||Clinical Findings||Histopathological findings|
|Carson et al. 1977||15 yo M||DM, DI, OA, osteopetrosis, and obstructive uropathy.||- Atrophy of the pons, optic nerves, chiasm, and tracts, pale SN, and small posterior pituitary|
- Axonal destruction and loss of myelin in optic nerves, chiasm, and tracts, CST and transverse pontine fibers. Loss of neurons in the PVN and SON.
|Carson et al. 1977||21 yo F||CHD and renal anomalies, vision loss, DM, DI, and osteoporosis||- Atrophy of optic nerves, chiasm, and tracts, pallor of the OR, pale SN, absent posterior pituitary, atrophy of pons and cerebellum|
- Severe axonal destruction and demyelination in optic nerves, loss of neurons in the PVN and SON, gliosis/atrophy of the superior olivary nucleus, scattered regions of demyelination.
|Hilson et al. 2009||24 yo M||DM, DI, vision loss, Hashimoto thyroiditis, nystagmus, SNHL, slurred dysarthria, gait abnormality||- marked neuronal loss in the PVN and SON, pontine base, inferior olivary nucleus, retinal ganglion, myelinated axons in the optic nerves, optic chiasm, lateral geniculate nucleus, and loss of organ of Corti in the basal turn of the cochlea|
|Genis et al. 1997||37 yo F||DM, anosmia, vision and high-frequency hearing loss, cerebellar dysfunction, clonus, memory loss, dysarthria, postural tremor, and urinary abnormalities||- Atrophy of olfactory bulbs, tracts, optic nerves, chiasm, loss of neurons in LGN, superior colliculus, cochlear nerve and nuclei, inferior colliculus, and OPCT atrophy, demyelination of the pyramidal tracts, neuronal loss of the PVN and SON, and motor neurons in the spinal cord|
|Shannon et al. 1999||38 yo F||DM, DI, vision loss, SNHL, hyporeflexia, urinary abnormalities, paresthesias, memory impairment, anosmia, strabismus, nystagmus||- Degeneration of optic nerves and tracts, loss of neurons in LGN, basis pontis, PVN and SON, widespread axonal dystrophy in pontocerebellar tracts, OR, hippocampal fornices, and deep cerebral white matter|