title: Spinal cord calcification in an early-onset progressive leukoencephalopathy.
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.
authors.affiliation: Child Neurology and Psychiatry Unit, IRCCS C. Mondino National Institute of Neurology Foundation, Pavia, Italy. simona.orcesi@mondino.it
authors.forename: Simona
authors.initials: S
authors.lastname: Orcesi
authors.forename: Roberta
authors.initials: R
authors.lastname: La Piana
authors.forename: Carla
authors.initials: C
authors.lastname: Uggetti
authors.forename: Davide
authors.initials: D
authors.lastname: Tonduti
authors.forename: Anna
authors.initials: A
authors.lastname: Pichiecchio
authors.forename: Moreno
authors.initials: M
authors.lastname: Pasin
authors.forename: Gisela
authors.initials: G
authors.lastname: Viselner
authors.forename: Giacomo P
authors.initials: GP
authors.lastname: Comi
authors.forename: Roberto
authors.initials: R
authors.lastname: Del Bo
authors.forename: Dario
authors.initials: D
authors.lastname: Ronchi
authors.forename: Stefano
authors.initials: S
authors.lastname: Bastianello
authors.forename: Umberto
authors.initials: U
authors.lastname: Balottin
mesh_terms: D002114:Calcinosis / Q000235:genetics / Q000473:pathology*; D018450:Disease Progression; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D056784:Leukoencephalopathies / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D008297:Male; D028361:Mitochondrial Diseases / Q000235:genetics / Q000473:pathology*; D013116:Spinal Cord / Q000378:metabolism / Q000473:pathology*