Variable presentation of cytochrome c oxidase deficiency.

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.