Sitosterolemia

Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in <i>ABCG5<i> (2p21) and <i>ABCG8</i> (2p21) genes.

Spinal cord compression

External mechanical compression of the spinal cord.

Total: 4

(per page)

PMID (PMCID)
2241122	FEMALE	Middle Aged
	Spinal cord compression with paraplegia in xanthomatosis due to normocholesterolemic sitosterolemia.
	Hatanaka I, Yasuda H, Hidaka H, Harada N, Kobayashi M, Okabe H, Matsumoto K, Hukuda S, Shigeta Y. Ann Neurol. 1990;28(3):390-3.
	This is the first reported case of a patient with sitosterolemia who had the neurological complication of spinal cord compression due to extramedullary sitosterolemic xanthomas.
2241122	FEMALE	Middle Aged
	Spinal cord compression with paraplegia in xanthomatosis due to normocholesterolemic sitosterolemia.
	Hatanaka I, Yasuda H, Hidaka H, Harada N, Kobayashi M, Okabe H, Matsumoto K, Hukuda S, Shigeta Y. Ann Neurol. 1990;28(3):390-3.
	Spinal cord compression with paraplegia in xanthomatosis due to normocholesterolemic sitosterolemia.
2279360	FEMALE	Middle Aged
	[A case of sitosterolemia with spastic gait due to intradural-extramedullary xanthoma].
	Yasuda H, Hatanaka I, Hidaka H, Okabe H, Shigeta Y. Rinsho Shinkeigaku. 1990;30(10):1095-8.
	This is the first case of sitosterolemia with neurological complication i.e., spinal cord compression due to extramedullary sitosterolemia xanthomas.
2279360	FEMALE	Middle Aged
	[A case of sitosterolemia with spastic gait due to intradural-extramedullary xanthoma].
	Yasuda H, Hatanaka I, Hidaka H, Okabe H, Shigeta Y. Rinsho Shinkeigaku. 1990;30(10):1095-8.
	This is the first case of sitosterolemia with neurological complication i.e., spinal cord compression due to extramedullary sitosterolemia xanthomas.