Patients of Cockayne syndrome
- Patient Serial No - 1
- Patient Serial No - 2
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.
Age:
25
Sex:
male
Location:
dhaka
Clinical Features:
The patient reported acute respiratory tract infection along with progressive difficulties in walking, hearing, and vision. He learned to walk at one year. But he had to seek help for another year to walk alone and his gait is unsteady still now. He was reluctant to take food. He never achieved weight and height above 3rd percentile according to age. He had slurring of speech and gradually became apathic. He could not communicate with others reasonably according to his age since his childhood. By the age of 15 he noticed visual difficulty, photophobia and impaired hearing. These symptoms were progressive and at present, he can hear very little and is blind. He attained puberty lately at 20 years. On examination we found him noncooperative, IQ below 50, length of upper limbs 52 cm and lower limbs 56 cm. His head circumference was 46 cm, height was 1.12 meter and weight was 17kg. All these parameters are much below 5th percentile according to his age. He had a senile appearance with sunken eyes and dry skin and hair.
Biochemical Data:
complete blood count, serum creatinine, serum T3, T4, TSH and Prolactin level were found within normal limit. Serum Calcium was 2.5 mmol/L, Parathyroid hormone level was 9.11pgm/ml and Alanine Aminotransferase (ALT) level was 120 IU/L.
Remarks:
Ultra sonogram of whole abdomen revealed mild hepatomegaly. Pure tone audiogram showed bilateral sensory neural deafness. X ray of both hands revealed that all bones were proportionate but shorter according to age and all the growth ends were fused. X ray skull lateral view showed an area of calcification in mid cortex. MRI of brain revealed bilateral calcification of basal ganglia and dentate nucleus. Generalized cerebral and cerebellar atrophy and ventricular dilatation were also observed. As the boy nicely fit the frame of classic Cockayne syndrome, chromosome analysis was not done for diagnostic purpose.