Background. Pelizaeus-Merzbacher disease (PMD) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and muscular hypotonia with subsequent ataxia, spasticity and mental retardation. Various point mutations or duplications in the PLP gene on the X chromosome are responsible for PMD in the majority of patients. Autosomal recessive inheritance, particularly in the connatal form, cannot be excluded. Three different forms of the disease have been identified based on their onset, progression and severity of myelin pathology indicated by MRI features. Objective. To determine if MR spectroscopy is useful in the diagnosis of the connatal form of PMD. Materials and methods. Proton MR spectroscopy was performed on two children with connatal PMD. Results. Our patients showed a markedly decreased peak of Cho. This alteration is well represented by quantitative analysis of the NAA-to-Cho ratio, which is the most important ratio affected. A significant decrease of the Cho-to-Cr ratio is also present. In the connatal form of PMD, global lack of myelination may be relevant, as demonstrated by a significant Cho peak reduction. Conclusions. Proton MR spectroscopy may be of diagnostic value in metabolic and destructive disorders of the brain. A greater number of patients with connatal PMD is needed in order to elucidate the significance of reduction of the Cho peak.

In questo articolo vengono discussi gli aspetti clinici , evolutivi, genetici e neuroradiologici della malattia di Pelizaeus- Merzbacher, una sindrome dismielinizzante ad esordio frequentemente neonatale ed in prima infanzia.

Proton MR spectroscopy in Connatal Pelizaeus-Merzbacher disease / Spalice, A.; Scarabino, T.; Parisi, Pasquale; Popolizio, T.; Iannetti, P.. - In: PEDIATRIC RADIOLOGY. - ISSN 0301-0449. - 30:3(2000), pp. 171-175. [10.1007/s002470050039]

Proton MR spectroscopy in Connatal Pelizaeus-Merzbacher disease

A. SPALICE;PARISI, Pasquale;P. IANNETTI
2000

Abstract

Background. Pelizaeus-Merzbacher disease (PMD) is a rare dysmyelinating disorder characterised by early pendular nystagmus, often rotatory and muscular hypotonia with subsequent ataxia, spasticity and mental retardation. Various point mutations or duplications in the PLP gene on the X chromosome are responsible for PMD in the majority of patients. Autosomal recessive inheritance, particularly in the connatal form, cannot be excluded. Three different forms of the disease have been identified based on their onset, progression and severity of myelin pathology indicated by MRI features. Objective. To determine if MR spectroscopy is useful in the diagnosis of the connatal form of PMD. Materials and methods. Proton MR spectroscopy was performed on two children with connatal PMD. Results. Our patients showed a markedly decreased peak of Cho. This alteration is well represented by quantitative analysis of the NAA-to-Cho ratio, which is the most important ratio affected. A significant decrease of the Cho-to-Cr ratio is also present. In the connatal form of PMD, global lack of myelination may be relevant, as demonstrated by a significant Cho peak reduction. Conclusions. Proton MR spectroscopy may be of diagnostic value in metabolic and destructive disorders of the brain. A greater number of patients with connatal PMD is needed in order to elucidate the significance of reduction of the Cho peak.
2000
In questo articolo vengono discussi gli aspetti clinici , evolutivi, genetici e neuroradiologici della malattia di Pelizaeus- Merzbacher, una sindrome dismielinizzante ad esordio frequentemente neonatale ed in prima infanzia.
pelizaeus-merzbacher disease; connatal onset; dysmielinating disease; mri
01 Pubblicazione su rivista::01i Case report
Proton MR spectroscopy in Connatal Pelizaeus-Merzbacher disease / Spalice, A.; Scarabino, T.; Parisi, Pasquale; Popolizio, T.; Iannetti, P.. - In: PEDIATRIC RADIOLOGY. - ISSN 0301-0449. - 30:3(2000), pp. 171-175. [10.1007/s002470050039]
File allegati a questo prodotto
File Dimensione Formato  
Spalice_Proton-MR_2000.pdf

solo gestori archivio

Tipologia: Versione editoriale (versione pubblicata con il layout dell'editore)
Licenza: Tutti i diritti riservati (All rights reserved)
Dimensione 187.87 kB
Formato Adobe PDF
187.87 kB Adobe PDF   Contatta l'autore

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/248889
Citazioni
  • ???jsp.display-item.citation.pmc??? 3
  • Scopus 20
  • ???jsp.display-item.citation.isi??? 16
social impact