Indel mutation of ERCC8 in Cockayne syndrome Patients
- Patient Serial No - 1
Age:
4
Sex:
male
Location:
dhaka
Mutation Type:
deletion
Mutation:
Exon 2, c. (1705+1_1706-1)_(1845+1_ 1846- 1)
Clinical Features:
On examination, he had microcephaly, dysmorphic facies, thin and sparse hair, sunken eyes, prominent nose and ears, wizened look, no neuro-cutaneous mark. He was anthropometrically mildly wasted and moderately stunted. He was vitally stable. Eye examination revealed: anterior segment was enopthalmic, in posterior segment, there was pigmentary change in retina and optic atrophy. Hearing and dental examination was normal. Neurological examination revealed that, bulk of muscle was decreased, tone was increased and power 4/5 in both upper and lower limbs. Gait could not be evaluated as he could not walk. Other systemic examination revealed normal. His psychological assessment was done by WISC-R IV which revealed moderate intellectual disability. While assessing his activity of daily living, it was found that, he could not eat, bath on his own, he was toilet trained.
Biochemical Data:
Basic metabolic test, serum uric acid, liver function test, renal function test, serum electrolytes, serum calcium, phosphate level, thyroid hormone level, random blood sugar were normal.
treatement and management:
The patient was treated with supportive management. Patient was enrolled for speech and language therapy, occupational therapy, visual stimulation, physiotherapy and special schooling. The parents were counseled regarding the nature of the disease, chance of recurrence and were suggested for genetic tests for the parents.