MRI pattern similar to Marchiafava-Bignami-Syndrome in an infant

Objectives: To report an exceptional neuroimaging finding comparable to Marchiafava-Bignami-Syndrome (MBS) in an infant.

Case report: Boy, second child of non consanguineous parents. He sat at the age of 9 months unsupported, crawled at 9 1/2 months, stood up at 10 months. At the age of 11 months intermittent horizontal nystagmus was observed. Presentation at the age of 16 months: normal results for weight, length and head circumference, intermittent horizontal nystagmus, normal eye pursuit movement, no ocular apraxia, not able to stand free or walk due to truncal ataxia, sits unsupported, muscular tone mildly decreased, poor muscular reflexes, developmental age 13 months (EQ 80). Detailed case history provides no indication of acute or subacute disorder with regression, impaired consciousness or intoxication, especially no alcohol ingestion. Since the age of 13 months the parents supplemented vitamins and fluorine at the appropriate dosage with the view to prophylaxis. Follow-up at 23 months: no nystagmus, truncal and gait ataxia, able to stand and walk unsupported, intermittent toe walking. Clumsy, mildly dysmetric, restless, short attention span, speaks only a few words, developmental age 16–18 months (EQ 70–80).

MRI brain: T2w hyperintense lesions involving the splenium and genu of corpus callosum, with extension into the frontal white matter, with corresponding restricted diffusion on diffusion tensor imaging.

Relevant laboratory findings: normal results for haemogram, liver enzymes, creatinine, urea, albumin, vitamins B1, B2, B6, B12, E, folic acid. CSF: no cells, glucose 3.0 mmol/l, protein 0.12g/l. Urine screening for organic and amino acids normal.

Conclusions: MBS-like MR findings with areas of restricted diffusion may be observed in infancy. It's significance of the yet unexplained cause is not known in view of its rarity and lack of follow-up observation.