3-methylcrotonyl-CoA carboxylase deficiency and severe multiple sclerosis.

• This report describes a female with isolated 3-methylcrotonyl-CoA carboxylase deficiency. She had a mild Reye-like episode, loss of scalp hair, psychomotor retardation, and an attention-deficit hyperactivity disorder. The diagnosis was made at 13 years of age when she developed relapsing remitting multiple sclerosis with a malignant course. Treatment with steroids had initially a good therapeutic effect on the relapses. The response to interferon beta-1a treatment was poor. On mitoxantrone treatment there was a considerable neurologic recovery.

Nyckelord

Adjuvants

Immunologic

therapeutic use

Adolescent

Analgesics

therapeutic use

Brain

pathology

Carbon-Carbon Ligases

deficiency

Female

Humans

Interferon-beta

therapeutic use

Magnetic Resonance Imaging

Metabolism

Inborn Errors

complications

pathology

Mitoxantrone

therapeutic use

Multiple Sclerosis

Relapsing-Remitting

complications

drug therapy

pathology

Steroids

therapeutic use

Publikations- och innehållstyp

ref (ämneskategori)

art (ämneskategori)