Cerebrotendinous Xanthomatosis: Report of two cases and a novel genetic mutation in an Indian patient
The second case was of a 28-year-old male who was born of a non-consanguineous marriage, had delayed psychomotor milestones with mental retardation, congenital cataract, and recurrent episodes of diarrhea since early childhood. He had history of progressive spastic diplegia, tremulousness in both upper limbs and scanning speech. The patient had impaired attention, vigilance, comprehension, and new learning ability. Pan-sensory impairment was noted below knee with impaired limb coordination in upper limbs.\nPatient's skin biopsy of swelling over Achilles confirmed xanthoma []. MRI brain showed altered signals in bilateral cerebral peduncles, ventral pons, both the middle cerebellar peduncles and medullary pyramids. Based on the clinical, radiological, and biopsy findings of the Achilles tendon swelling, diagnosis of CTX was confirmed.