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Neuropediatrics 2020; 51(01): 037-044
DOI: 10.1055/s-0039-1698451
Original Article
Georg Thieme Verlag KG Stuttgart · New York

Comparative Analysis of Cerebral Magnetic Resonance Imaging Changes in Nontreated Infantile, Juvenile and Adult Patients with Niemann-Pick Disease Type C

Janina Gburek-Augustat
1   Division of Neuropaediatrics, Hospital for Children and Adolescents, University Leipzig, Leipzig, Germany
2   Department of Neuropaediatrics, Developmental Neurology, Social Paediatrics, University Children's Hospital Tuebingen, Tuebingen, Germany
3   Rare Disease Center Tuebingen, University of Tuebingen, Tuebingen, Germany
,
Samuel Groeschel
2   Department of Neuropaediatrics, Developmental Neurology, Social Paediatrics, University Children's Hospital Tuebingen, Tuebingen, Germany
3   Rare Disease Center Tuebingen, University of Tuebingen, Tuebingen, Germany
,
Jan Kern
2   Department of Neuropaediatrics, Developmental Neurology, Social Paediatrics, University Children's Hospital Tuebingen, Tuebingen, Germany
3   Rare Disease Center Tuebingen, University of Tuebingen, Tuebingen, Germany
,
Stefanie Beck-Woedl
3   Rare Disease Center Tuebingen, University of Tuebingen, Tuebingen, Germany
4   Institute of Medical Genetics and Applied Genomics, University Hospital Tuebingen, Tuebingen, Germany
,
Jennifer Just
3   Rare Disease Center Tuebingen, University of Tuebingen, Tuebingen, Germany
5   Department of Neurology with Focus on Neurodegenerative Disorders, Center of Neurology, University Hospital Tuebingen, Tuebingen, Germany
,
Klaus Harzer
2   Department of Neuropaediatrics, Developmental Neurology, Social Paediatrics, University Children's Hospital Tuebingen, Tuebingen, Germany
3   Rare Disease Center Tuebingen, University of Tuebingen, Tuebingen, Germany
,
Miriam Stampfer
3   Rare Disease Center Tuebingen, University of Tuebingen, Tuebingen, Germany
4   Institute of Medical Genetics and Applied Genomics, University Hospital Tuebingen, Tuebingen, Germany
,
Ingeborg Kraegeloh-Mann
2   Department of Neuropaediatrics, Developmental Neurology, Social Paediatrics, University Children's Hospital Tuebingen, Tuebingen, Germany
3   Rare Disease Center Tuebingen, University of Tuebingen, Tuebingen, Germany
› Author Affiliations
Further Information

Publication History

05 May 2019

29 August 2019

Publication Date:
22 October 2019 (online)

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Abstract

Aim The study aims to describe cerebral MRI in different onset forms of Niemann-Pick type C (NPC). Systematic MRI analyses in this rare lysosomal storage disease are lacking in the infantile and juvenile onset forms.

Methods Thirty-two cerebral MRI scans from 19 patients with NPC were assessed using a newly established and validated scoring system which addresses white matter changes and supratentorial versus infratentorial atrophy.

Results Seven scans were from six NPC patients with early infantile onset (<2 years of age), six scans were from three patients with late infantile onset (2–6 years), six scans from four with juvenile onset (6–15 years), and 13 from six with adult onset (>15 years). While supratentorial atrophy was the leading sign in the infantile groups, the juvenile and adult forms were characterized by both, infra- and supratentorial atrophy. White matter changes were found in nearly every patient; they increased with the disease duration in the earlier forms and were prominent in the later forms already early in the disease course.

Conclusion This is the first systematic and comparative MRI analysis in the different onset groups of NPC using a scoring system. Early during disease course, MRI showed different patterns in infantile compared with juvenile and adult onset NPC patients, for example, only supratentorial atrophy in juvenile versus global atrophy in adult onset patients. MRI changes provide an additional, early biomarker for NPC.

Keywords

Niemann-Pick type C - biomarker - MRI

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