[A case of Cockayne's syndrome with clinical symptoms in the neonatal period].
A 2-year-old boy with Cockayne's syndrome was reported. The patient was noticed to have poor sucking and poor weight gain from the neonatal period and showed poor psychomotor development after 4 months of age and failed to gain weight after 8 months of age. At 11 months of age, CT revealed brain atrophy and calcification in the basal ganglia, the cerebral white matter and the cerebral cortex. At this time, the peripheral neuropathy was also detected. At 22 months of age, CT showed marked brain atrophy and diffuse intracranial calcification with the cerebellar calcification.
Goto
K
K
Ogawa
T
T
D002675:Child, Preschool; D003057:Cockayne Syndrome / Q000175:diagnosis*; D004392:Dwarfism; D006801:Humans; D008297:Male