Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
We report an adolescent case of late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD) characterized by intermittent nausea and depressive state as early symptoms. At the age of 12 years and 11 months, the patient experienced intermittent nausea and vomiting, and depressive state. She was on medication for depression for 5 months but it was ineffective. Brain magnetic resonance imaging showed disseminated high-intensity areas in the periventricular white matter and in the splenium of the corpus callosum on T2-weighted images and fluid-attenuated inversion-recovery images. Progressive muscle weakness occurred and blood creatine kinase level was found to be elevated. The muscle biopsy revealed lipid storage myopathy. Urine organic acid analysis and mutation analysis of the ETFDH gene confirmed the diagnosis of MADD. With oral supplements of riboflavin and l-carnitine, in addition to a high-calorie and reduced-fat diet, her clinical symptoms improved dramatically. Early diagnosis is important because riboflavin treatment has been effective in a significant number of patients with MADD.
Ishii
Kiyoko
K
Department of Child Neurology, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8551, Japan.
Komaki
Hirofumi
H
Ohkuma
Aya
A
Nishino
Ichizo
I
Nonaka
Ikuya
I
Sasaki
Masayuki
M
D000293:Adolescent; D017668:Age of Onset; D001706:Biopsy; D002490:Central Nervous System / Q000473:pathology / Q000503:physiopathology*; D044927:Electron-Transferring Flavoproteins / Q000172:deficiency / Q000235:genetics; D005260:Female; D006801:Humans; D007506:Iron-Sulfur Proteins / Q000172:deficiency / Q000235:genetics; D054069:Multiple Acyl Coenzyme A Dehydrogenase Deficiency / Q000175:diagnosis* / Q000178:diet therapy* / Q000201:enzymology / Q000235:genetics; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology* / Q000601:surgery; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000172:deficiency / Q000235:genetics; D012256:Riboflavin / Q000627:therapeutic use*; D016896:Treatment Outcome
D044927:Electron-Transferring Flavoproteins; D007506:Iron-Sulfur Proteins; D000587:Oxidoreductases Acting on CH-NH Group Donors; C023120:electron-transferring-flavoprotein dehydrogenase; D012256:Riboflavin