Neuropediatrics 2005; 36 - P19
DOI: 10.1055/s-2005-868004

Chronic inflammatory polyneuropathy as an early symptom of metachromatic leukodystrophy: two case reports

E Haberlandt 1, S Scholl-Bürgi 1, S Baumgartner 1, D Skladal 1, S Foerster 1, S Felber 2, S Sauter 3, R Korinthenberg 4
  • 1Medizinische Universität Innsbruck, Klinische Abteilung für allgemeine Pädiatrie, Innsbruck, Österreich
  • 2Medizinische Universität Innsbruck, Klinische Abteilung für Radiologie, Arbeitgruppe für Neuroradiologie, Innsbruck, Österreich
  • 3St. Hedwig, Freiburg, Kinderabteilung, Freiburg, Deutschland
  • 4Universitätsklinikum Freiburg, Zentrum für Kinderheilkunde und Jugenmedizin, Klinik für Neuropädiatrie und Muskelerkrankungen, Freiburg, Deutschland

Metachromatic leukodystrophy (MLD) is an autosomal recessively transmitted progessive white matter disease. Four types with different clinical onset and progression are known. MLD is diagnosed by an absent activity of the enzyme arylsulfatase A, demyelinisation is detected by cerebral MRI.

We present two patients with late infantile MLD with the beginnung in their second year of life. Initially both showed clinical signs of peripheral polyneuropathy, with a mixed axonal demyelinising neuropathy of unclear origin in biopsy samples. Increased protein-levels in CSF, multifocal slowing of nerve conduction velocity gave hints to peripheral polyneuropathy. Cerebral MRI at an early stage of disease did not show any focal pathologies. A 12 months follow-up MRI showed characteristic demyelination.

It is not reported yet, that at the early stages of infantile MLD cerebral MRI does not show any pathological findings. We conclude that in any case of clinical polyneuropathy in children MLD should be excluded.