Ophthalmoplegia-plus. Its occurrence with periventricular diffuse low density on computed tomography scan.

Familial cases of progressive external ophthalmoplegia, deafness, generalized weakness, and hypogonadism were studied. A muscle biopsy specimen showed increased amounts of glycogen particles, lipid droplets, and mitochondria that frequently contained paracrystalline inclusion bodies between intramitochondrial and extramitochondrial membranes. Involvement of the CNS was suspected from a computed tomography scan that revealed diffuse, low-density deep cerebral white matter. Therapy with corticosteroids (prednisolone) was effective for recovery of muscular strength in the extremities. Possible involvement of the CNS in ophthalmoplegia-plus might be related to an abnormal metabolism of mitochondria.