Variable presentation of cytochrome c oxidase deficiency
K. Keppler and C. Cunniff
Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock.
OBJECTIVE--To describe three patients with cytochrome c oxidase deficiency.
DESIGN--Patient series. SETTING--Tertiary care children's hospital in
Arkansas. PARTICIPANTS--A sibling pair and an unrelated patient referred
for evaluation and found to have cytochrome c oxidase deficiency.
INTERVENTIONS--None. MEASUREMENTS/MAIN RESULTS--Affected individuals had
the characteristic presentation of psychomotor regression, growth
deficiency, and lactic acidosis. The severity of the clinical course was
found to correlate with the lactate-pyruvate ratio. Two of the infants had
evidence, on magnetic resonance imaging, of subacute necrotizing
encephalomyelopathy (Leigh disease). The most severely affected child had
an unusual presentation of prenatal onset of structural anomalies including
glabellar prominence, abnormal hair, loose skin, inguinal hernias, and
hypospadias. CONCLUSIONS--The presentation and clinical course of
cytochrome c oxidase deficiency are highly variable and the diagnosis of
cytochrome c oxidase deficiency should be considered in all patients with
lactic acidosis or subacute necrotizing encephalomyelopathy. Particular
consideration should be given to this diagnosis when lactic acidosis is
found in a neonate with structural anomalies.
