Spinal cord calcification in an early-onset progressive leukoencephalopathy

Simona Orcesi, Roberta La Piana, Carla Uggetti, Davide Tonduti, Anna Pichiecchio, Moreno Pasin, Gisela Viselner, Giacomo P. Comi, Roberto Del Bo, Dario Ronchi, Stefano Bastianello, Umberto Balottin

Research output: Contribution to journalArticlepeer-review

Abstract

Spinal cord calcifications are an unusual finding in pediatric neurology. We here describe a young child who presented severe psychomotor delay, tetraplegia, deafness, and anemia. Neuroradiological investigations revealed severe leukodystrophy and unusual calcifications in the cerebral white matter and all along the medullary pathways. Common infectious and metabolic diseases were ruled out. A mild reduction in the activity of several respiratory chain complexes was documented on muscle biopsy. Of interest, we found an intronic variant in DARS2, a gene involved in mitochondrial DNA translation, responsible for the syndrome of leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate. In our opinion, our case, and probably 2 previously reported Japanese siblings with a picture very similar to that of our patient, could represent a new, progressive leukoencephalomyelopathy.

Original languageEnglish
Pages (from-to)876-880
Number of pages5
JournalJournal of Child Neurology
Volume26
Issue number7
DOIs
Publication statusPublished - Jul 2011

Keywords

  • leukodystrophy
  • mitochondria
  • spinal cord calcifications

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

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