[Edward Alfred Cockayne (1880–1956), English pediatrician who published “Inherited Abnormalities of the Skin and its Appendages” in 1933, the first book on inherited skin disorders]

= autosomal recessive diffuse demyelinating disease

Age: beginning at age 1

• dwarfism; retinal atrophy + deafness
• progressive physical + mental deterioration
• brain atrophy / microcephaly
• calcifications in basal ganglia + cerebellum
• skeletal changes superficially similar to progeria

DDx: Progeria