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Methylenetetrahydrofolate reductase (MTHFR) deficiency is an autosomal recessive disorder with a spectrum of manifestations including neurological symptoms, premature arteriosclerosis, and venous and arterial thrombosis. Most patients are heterozygous for multiple MTHFR substitutions; small minorities are homozygous for mutations at this locus. Among these mutations, the C677T polymorphism is the most deleterious. Nitrous oxide use in anesthesia leads to significant increases in plasma homocysteine. We present a patient undergoing urgent surgery with a preoperative diagnosis of homozygous MTHFR deficiency.

Stiff-Person syndrome is a rare autoimmune neurologic disorder that affects the central nervous system by inhibiting production of the neurotransmitter gamma-aminobutyric acid. Painful muscle spasms and rigidity are the clinical manifestations of the disease. An ideal anesthetic technique has not been described for this patient population because of the rarity of the disease. This case report describes the successful use of total intravenous anesthesia in a patient with Stiff-Person Syndrome.

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