Cockayne syndrome


Mental retardation

Patient Data

Age: 10
Gender: Male

MRI imaging studies revealed brain atrophy with subsequent ventricular system dilation. Moderate atrophy was also seen at brain stem and cerebellum. Supratentorial white matter showed high signal intensity on T2-weighted sequences consistent with hypomyelination. Gradient echo depicts low signal at the basal ganglia bilaterally inferring calcification.

Case Discussion

Cockayne syndrome is a rare multisystem disorder, with autosomal recessive inheritance. Clinical features include failure to thrive, neurodevelopmental delay, cutaneous photosensitivity, pigmentary retinopathy, neurosensory hearing loss, dental caries,and cachectic dwarfism. The diagnosis is considered very likely if the first 2 clinical criteria and at least 3 of the other criteria mentioned above are present.

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Case information

rID: 23581
Published: 25th Jun 2013
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included

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