Presentation
Developmental delay.
Patient Data
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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