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. © The Author(s) 2011.

Spinal cord calcification in an early-onset progressive leukoencephalopathy / S. Orcesi, R. La Piana, C. Uggetti, D. Tonduti, A. Pichiecchio, M. Pasin, G. Viselner, G.P. Comi, R. Del Bo, D. Ronchi, S. Bastianello, U. Balottin. - In: JOURNAL OF CHILD NEUROLOGY. - ISSN 0883-0738. - 26:7(2011 Jul), pp. 876-880.

Spinal cord calcification in an early-onset progressive leukoencephalopathy

D. Tonduti;G.P. Comi;R. Del Bo;D. Ronchi;
2011

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. © The Author(s) 2011.
leukodystrophy; mitochondria; spinal cord calcifications; calcinosis; disease progression; fatal outcome; humans; infant; leukoencephalopathies; male; mitochondrial diseases; spinal cord; neurology (clinical); pediatrics, perinatology and child health; brain-stem; cytomegalovirus-infection; high lactate; involvement
Settore MED/26 - Neurologia
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/253968
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