BACKGROUND

Menkes disease is a relatively rare X-linked neurodegenerative disorder of copper transport secondary to mutations in the ATP7A gene. Grey and white matter abnormalities and spontaneous intracranial bleeding are well documented radiological findings. However, lactate peak on magnetic resonance spectroscopy (MRS) is less frequently described. This is commonly observed in a range of metabolic disorders typically mitochondrial diseases. When reported in Menkes disease, it is thought to result from energy failure due to deficiency of copper-containing enzymes.


AIM

To describe an infrequent finding on MRS in an unusual case of Meknes disease.

CASE REPORT

This ex 29-week preterm boy presented at the corrected age of two months with episodes of hypothermia, lethargy and poor feeding. He had a difficult early neonatal course complicated by episodes of sepsis and hypothermia. During this presentation, he had episodes of tonic posturing and unresponsiveness that subsequently led to mechanical ventilation. Maintaining his body temperature within normal limits was difficult. Interestingly, he had very little body hair. A brain MRI scan demonstrated bifrontal chronic subdural haemorrhages, white matter loss and delayed myelination. MRS revealed a positive lactate peak in both basal ganglia and white matter. Both plasma and CSF lactate levels were normal. Plasma copper and caeruloplasmin were markedly low. A missense mutiaon in the ATP7A gene was found.

DISCUSSION & CONCLUSION
The differential diagnosis of a lactate peak on MRS in a male infant presenting with unusual neurologic manifestations should be expanded to include Menkes disease.