Severe dystonia caused by hemolytic-uremic syndrome with characteristic MRI scans

Aims: We discussed characteristic MRI scans and possible treatment regimes in four patients with severe dystonia caused by hemolytic-uremic syndrome (HUS).

Methods: Four patients (aged 18 to 36 months) with HUS (D+= with diarrhea) caused by enterohemorrhagic Escherichia coli (E. coli) (EHEC: O157, O111, O104:H4, O26:H-) were admitted for neuropediatric early rehabilitation. We reviewed their clinical history in retrospective. All patients were treated with renal replacement therapy in the acute phase.

Results: The treatment included multimodal strategies with antidystonic drugs, botulinum toxin injections (BoNT, 3x), intrathecal application of Baclofen (ITB, 2x), and deep brain stimulation (DBS, 1x). Cerebral MRI scans represented lesions of the basal ganglia, in particular in the putamen, globus pallidus, and thalamus of all patients. All patients showed cerebral atrophy.

In the course of neuropediatric rehabilitation, dystonia improved slightly, although there were no unambiguous signs of functional improvement. None of the patients was able to sit or to speak after pediatric neurorehabilitation.

Conclusion: All patients with HUS presented comparably severe basal ganglia lesions and marked dystonia. Treatment with antidystonic drugs, BoNT, ITB, or DBS resulted in only slightly improved dystonic movement disorder. It was not possible to distinguish between functional improvement due to treatment or because of spontaneous healing progress.

Prognosis in early rehabilitation has to take into consideration distinct functional deficits as a consequence of severe dystonia for children with HUS and severe basal ganglia lesions in spite of multimodal therapy concepts.