A 55-year-old with tendon xanthomas

Presenting symptoms¹

A 55-year-old adult was admitted to the hospital for investigations relating to a slowly progressive paraparesia and joint deformities.¹

Medical and family history¹

Patient had difficulty in standing and walking since infancy and had also suffered from bilateral juvenile cataracts. Patient was unable to complete their education because of intellectual disability. Three siblings had died in childhood, one from an undiagnosed neurological disorder. It was unknown whether patient's parents were related.

Physical and neurological examination¹

Physical examination revealed tendon xanthomas—firm, round, noninflammatory, subcutaneous tumors measuring 6 cm in diameter over the knees and elbows, which adhered to tendons. This patient also had yellowish papules of 2 to 3 mm in diameter in the superior eyelid compatible with xanthelasmas.¹

Neurological findings included: mental retardation, spastic-ataxic gait, bilateral Babinski sign, symmetric amiotrophia on inferior and superior extremities, and hyperactive deep tendon reflexes with associated left Achilles clonus. Ligamentous hyperlaxity was also observed. The electroencephalogram showed a mild disorganization of the basic activity of theta waves.

Laboratory testing and imaging studies¹

Standard laboratory test values were normal. A biopsy from the left knee showed an infiltrate of foam cells surrounded by fibrous tracts. Inflammatory cells such as lymphocytes, histiocytes, and neutrophils were observed around the foam cells in some areas and a cholesterol cleft was found.

Magnetic resonance imaging revealed cerebral and cerebellar atrophy and hyperintense signals in the mesencephalic peduncles, protuberance, and cerebellar hemispheres.

Diagnosis/outcome¹

Because of these symptoms CTX was suspected and later confirmed by laboratory testing. Appropriate management was initiated. However due to the advanced state of the patient’s disease, only slight improvement in spasticity was noted.