Type a Niemann-Pick Disease. Description of Three Cases with Delayed Myelination

d'Amico, A.; Sibilio, M.; Caranci, F.; Bartiromo, F.; Taurisano, R.; Balivo, F.; Melis, D.; Parenti, G.; Cirillo, S.; Elefante, R.; Brunetti, A.
June 2008
Neuroradiology Journal;Jun2008, Vol. 21 Issue 3, p309
Academic Journal
We describe three patients with type A Niemann-Pick disease (NPD-A). NPD-A is an autosomal recessive neuronal storage disease classified among the sphingolipidoses, characterized by accumulation of sphingomyelin in various tissues and in the brain. Magnetic Resonance imaging (MRI) of our three patients showed a marked delay of myelination with frontal atrophy. Few descriptions of this MRI pattern of delayed myelination have been published to date.


Related Articles

  • Efficiency of cognitive control recruitment in the very early stage of multiple sclerosis: a one-year fMRI follow-up study. Audoin, B.; Reuter, F.; Duong, M. V. A.; Malikova, I.; Confort-Gouny, S.; Cherif, A. A.; Cozzone, P. J.; Pelletier, J.; Ranjeva, J. P. // Multiple Sclerosis (13524585);Jul2008, Vol. 14 Issue 6, p786 

    Functional magnetic resonance imaging (FMRI) studies have established that patients with multiple sclerosis show stronger activation in the lateral prefrontal cortices (LPFC) than healthy control subjects during effortful cognitive tasks. The aim of the present study was to assess the impact of...

  • Migraineurs Without Aura Show Microstructural Abnormalities in the Cerebellum and Frontal Lobe. Granziera, C.; Romascano, D.; Daducci, A.; Roche, A.; Vincent, M.; Krueger, G.; Hadjikhani, N. // Cerebellum;Dec2013, Vol. 12 Issue 6, p812 

    The involvement of the cerebellum in migraine pathophysiology is not well understood. We used a biparametric approach at high-field MRI (3 T) to assess the structural integrity of the cerebellum in 15 migraineurs with aura (MWA), 23 migraineurs without aura (MWoA), and 20 healthy controls (HC)....

  • Stem cells in Niemann-Pick disease. Sun-Jung Kim; Joon-Suk Park; Kyung-Sun Kang // Disease Markers;2008, Vol. 24 Issue 4/5, p231 

    Neural stem cells are multi-potent and able to self renew to maintain its character throughout the life. Loss of self renewal ability of stem cells prevents recovery or replacement of cells damaged by disease with new cells. The Niemann-Pick type C1 (NPC1) disease is one of the neurodegenerative...

  • Hirayama's disease: The importance of flexion magnetic resonance imaging. Jakhere, S.; Wagh, V. // Journal of Postgraduate Medicine;Jan-Mar2011, Vol. 57 Issue 1, p48 

    Hirayama's disease is a form of juvenile muscular atrophy affecting young individulas in their second to third decade. The underlying pathogenetic mechanism is believed to be an imbalanced growth between the individuals' vertebral column and the spinal canal contents, which causes abutment of...

  • Hirayama Disease in Children From North America. Ghosh, Partha S.; Moodley, Manikum; Friedman, Neil R.; Rothner, A. David; Ghosh, Debabrata // Journal of Child Neurology;Dec2011, Vol. 26 Issue 12, p1542 

    Hirayama disease has been mainly reported from Asia; only a few cases are from the Western hemisphere, particularly North America. This is a retrospective chart review of patients < 18 years, diagnosed with Hirayama disease from a single center over 10 years. We diagnosed 6 children (4 boys),...

  • Vulnerability of the Anterior Commissure in Moderate to Severe Pediatric Traumatic Brain Injury. Wilde, Elisabeth A.; Bigler, Erin D.; Haider, Janelle M.; Chu, Zili; Levin, Harvey S.; Xiaoqi Li; Hunter, Jill V. // Journal of Child Neurology;Sep2006, Vol. 21 Issue 9, p769 

    In relation to the adult brain, the immature brain might be more vulnerable to damage during and following traumatic brain injury, particularly in white-matter tracts. Given well-established evidence of corpus callosum atrophy, we hypothesized that anterior commissure volume (using quantitative...

  • Niemann-Pick disease Type C - Sea-blue histiocytosis: Phenotypic and imaging observations and mini review. Praveen, K. S.; Sinha, S.; Yasha, T. C.; Muthane, U. B.; Ravishankar, S.; Sangeetha, S.; Shetty, K. T.; Taly, A. B. // Annals of Indian Academy of Neurology;Dec2007, Vol. 10 Issue 4, p259 

    We present a report on an 18-year-old boy with Niemann-Pick disease Type C (NP-C) who presented with progressive decline in scholastic performance since 9 years of age. At 12 years, he developed abnormal behavior and after 2 years had insidious onset, progressive gait ataxia and dysarthria...

  • An Unusual Presentation of Copper Metabolism Disorder and a Possible Connection With Niemann-Pick Type C. Goez, Helly R.; Jacob, Francois D.; Fealey, Robert D.; Patterson, Marc C.; Ramaswamy, Vijay; Persad, Rabin; Johnson, Edward S.; Yager, Jerome Y. // Journal of Child Neurology;4/1/2011, Vol. 26 Issue 4, p518 

    Abnormal copper metabolism has been linked with neurological disorders, such as Wilson and Menkes disease. Another disorder causing symptoms similar to copper metabolism disorder is Niemann-Pick type C. However, a definite pathophysiological connection between Niemann-Pick type C and copper...

  • Specific Contributions of Ventromedial, Anterior Cingulate, and Lateral Prefrontal Cortex for Attentional Selection and Stimulus Valuation. Kaping, Daniel; Vinck, Martin; Hutchison, R. Matthew; Everling, Stefan; Thilo Womelsdorf // PLoS Biology;Dec2011, Vol. 9 Issue 12, p1 

    Attentional control ensures that neuronal processes prioritize the most relevant stimulus in a given environment. Controlling which stimulus is attended thus originates from neurons encoding the relevance of stimuli, i.e. their expected value, in hand with neurons encoding contextual information...


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics