de Toni-Fanconi-Debré syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency.
We describe a patient with severe muscle cytochrome c oxidase deficiency who had de Toni-Fanconi-Debré syndrome and acute neurologic deterioration resembling Leigh syndrome, without clear evidence of muscle abnormality. Metabolic investigations revealed elevated cerebrospinal fluid lactate values contrasting with normal blood lactate, and high 3-hydroxybutyrate/acetoacetate ratio with normal lactate/pyruvate ratio. This case emphasizes the importance of performing metabolic and biochemical investigations in every patient with Leigh syndrome, even in the absence of hyperlactatemia or myopathy.
Ogier
H
H
Departement de Pediatrie, Hôpital Enfants Malades, Paris, France.
Lombes
A
A
Scholte
H R
HR
Poll-The
B T
BT
Fardeau
M
M
Alcardi
J
J
Vignes
B
B
Niaudet
P
P
Saudubray
J M
JM
D001928:Brain Diseases, Metabolic / Q000150:complications*; D002675:Child, Preschool; D030401:Cytochrome-c Oxidase Deficiency; D005198:Fanconi Syndrome / Q000150:complications*; D005260:Female; D006801:Humans; D007668:Kidney / Q000201:enzymology; D007773:Lactates / Q000097:blood / Q000134:cerebrospinal fluid; D019344:Lactic Acid; D007888:Leigh Disease / Q000150:complications*; D008099:Liver / Q000201:enzymology; D009132:Muscles / Q000201:enzymology
D007773:Lactates; D019344:Lactic Acid