Cerebrotendinous xanthomatosis

Abstract

Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid-storage disease caused by mutations in the sterol 27-hydroxylase gene. The accumulation of cholestanol in various tissues characterizes this disease. Diagnosis is based on determination of urinary bile alcohols. Therapy with chenodeoxycholic acid may arrest the progression of the disease. A 55-year-old woman presented with a slowly progressive paraparesia and two firm subcutaneous tumors over the knees. Her medical history revealed difficulty in standing and walking since infancy, bilateral juvenile cataracts, and mental retardation. Histopathologic examination of one subcutaneous tumor was consistent with tendinous xanthoma. Substantial elevation of urinary bile alcohols confirmed the diagnosis. Treatment with oral chenodeoxycholic acid was started, with only mild improvement of spasticity. Recognition of tendon xanthomas in a young patient with neurologic symptoms or cataracts (or both) is crucial to start early treatment and to avoid irreversible neurologic sequelae.

Cerebrotendinous xanthomatosis with a compound heterozygote mutation and severe polyneuropathy

“…The onset of polyneuropathy in the proband was later than other clinical symptoms, which is consistent with the reports of Taiwanese families 1,3 . Previously published reports noted that early neurological deficits included dementia, psychiatric disturbance and ataxia 3,9 . Pseudobulbar palsy and walking disorders typically develop at a late stage, with progressive spastic paraplegia commonly seen in this disease 9,10 .…”

“…1,3 Previously published reports noted that early neurological deficits included dementia, psychiatric disturbance and ataxia. 3,9 Pseudobulbar palsy and walking disorders typically develop at a late stage, with progressive spastic paraplegia commonly seen in this disease. 9,10 Pyramidal signs could be seen in the upper limbs of this proband.…”

“…3,9 Pseudobulbar palsy and walking disorders typically develop at a late stage, with progressive spastic paraplegia commonly seen in this disease. 9,10 Pyramidal signs could be seen in the upper limbs of this proband. However, there were no upper motor neuron signs in her lower limbs, which may be a result of severe damage to lower motor neurons in her legs.…”

Determination of serum cholestanol by semi‐micro high‐performance liquid chromatography with electrochemical detection

“…Although the mechanism is not fully understood, a defi ciency of sterol 27-hydroxylase leads to excessive production of cholestanol and its accumulation in serum and multiple tissues (Verrips et al, 2000;Norlin et al, 2003). Thus, the diagnosis of CTX requires the determination of cholestanol levels in serum (Nakajima et al, 1995;Bel et al, 2001).…”

Cerebrotendinous Xanthomatosis

“…Recognition of tendon xanthomas in a young patient with neurologic symptoms, cataracts or both is crucial to start early treatment and avoid irreversible neurologic sequelae. 3 We describe the cytomorphologic features of CTX, a rare disorder. Very few articles are available on the cytologic features.…”