In vivo brain proton MR spectroscopy in a case of molybdenum cofactor deficiency

A 20-day-old infant with molybdenum cofactor deficiency, a rare encephalopa thy, was investigated using cerebral MRI and proton MR spectroscopy. Images demonstrated extensive white-matter destruction with large cavities. The s hort-echo-time MR spectrum acquired in the parieto-occipital area was chara cterised by global loss of signal and accumulation of lactate. No additiona l signal in relation to the pathophysiology of the disease was detected. Th e brain metabolic abnormalities observed in this patient may reflect destru ction of white matter and the presence of large cavities.