Cockayne syndrome is a rare autosomal recessive
disease. This
paper reports a case of
Cockayne syndrome confirmed by
gene analysis. The baby (
male, 7 years old) was referred to
Peking University Third
Hospital with recurrent desquamation,
pigmentation and
growth and development failure for 6 years, and recurrent
dental caries and
tooth loss for 2 years.
Physical examination showed very low
body weight, body length and
head circumference, yellow
hair, a lot of fawn spots on the
face,
skin dry and less elastic, and subcutaneous lipopenia. He had an unusual appearance with sunken
eyes, sharp
nose, sharp
mandible, big auricle and
dental caries and
tooth loss. Crura spasticity and
ataxia with excessive
tendon reflexion, and
ankle movement limitation while bending
back were observed. He had slured
speech. The level of
serum insulin like growth factor I was low, and the results of
blood and urinary
amino acid analysis suggested
malnutrition. The results of
blood growth hormone, thyroxin, parathyroxin,
liver function, renal function,
lipoprotein profile and
blood glucose and
electrolytes were all within normal limit. An
electronic hearing examination showed moderate neural
hearing loss. The sonogram of
eyes revealed small
eye axis and
vitreous body opacity of right side. MRI of
brain revealed bilateral calcification of
basal ganglia and generalized cerebral and cerebellar
atrophy, and
brainstem and
callus were also atrophic. Genetic
analysis confirmed with CSA
gene mutation. So the boy was definitely diagnosed with
Cockayne syndrome. He was discharged because of no effective
treatment.