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Brain Dev. 2016 Jun;38(6):571-80. doi: 10.1016/j.braindev.2015.12.007. Epub 2016 Jan 13.

The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: A multicenter study of 19 patients.

Author information

1
Department of Radiology, National Center Hospital of Neurology and Psychiatry, Kodaira, Tokyo, Japan; Department of Radiology, Graduate School of Medicine and Faculty of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo, Japan.
2
Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
3
Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, Yachiyo, Chiba, Japan.
4
Department of Pediatrics, National Center Hospital of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
5
Division of Pediatrics, Minami Kyushu National Hospital, Aira, Kagoshima, Japan.
6
Department of Pediatric Neurology, Aichi Prefectural Colony Central Hospital, Kasugai, Aichi, Japan.
7
Department of Pediatric Neurology, Aichi Prefectural Colony Central Hospital, Kasugai, Aichi, Japan; Department of Pediatric Neurology, Aichi Medical University Hospital, Nagakute, Aichi, Japan.
8
Division of Child Neurology, Chiba Children's Hospital, Midori-ku, Chiba, Japan.
9
Department of Neurology, Saitama Children's Medical Center, Iwatsuki-ku, Saitama, Japan.
10
Department of Pediatrics, Seirei Mikatahara General Hospital, Hamamatsu, Shizuoka, Japan.
11
Department of Pediatrics, Hyogo Prefectural Amagasaki General Medical Center, Amagasaki, Hyogo, Japan.
12
Department of Pediatrics, Hiroshima City Hospital, Naka-ku, Hiroshima, Japan.
13
Department of Pediatrics, Seiai Rehabilitation Hospital, Onojo, Fukuoka, Japan.
14
Department of Pediatrics, Faculty of Medicine, Saga University, Saga, Japan.
15
Department of Pediatrics, Kanazawa Disabled Children's Hospital, Kanazawa, Ishikawa, Japan.
16
Medical Institute of Bioregulation, Kyusyu University, Higashi-ku, Fukuoka, Japan.
17
Department of Pediatrics, Jichi Medical University, Shimotsuke, Tochigi, Japan; Division of Neurology, Kanagawa Children's Medical Center, Minami-ku, Yokohama, Japan.
18
Division of Genetics, Kanagawa Children's Medical Center, Minami-ku, Yokohama, Japan.
19
Institute for Integrated Medical Science, Tokyo Women's Medical University, Shinjuku-ku, Tokyo, Japan.
20
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa-ku, Yokohama, Japan.
21
Integrative Brain Imaging Center, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
22
Department of Radiology, National Center Hospital of Neurology and Psychiatry, Kodaira, Tokyo, Japan. Electronic address: snoriko@ncnp.go.jp.

Abstract

PURPOSE:

We retrospectively evaluated the imaging spectrum of Pelizaeus-Merzbacher disease (PMD) in correlation with the clinical course and genetic abnormality.

METHODS:

We collected the magnetic resonance imaging (MRI) findings of 19 genetically proven PMD patients (all males, aged 0-29years old) using our integrated web-based MRI data collection system from 14 hospitals. The patterns of hypomyelination were determined mainly by the signals of the cerebrum, corticospinal tract, and brainstem on T2-weighted images (T2WI). We assessed the degree of myelination age on T1-weighted images (T1WI) and T2WI independently, and we evaluated cerebellar and callosal atrophy. The clinical severity and genetic abnormalities (causal mutations of the proteolipid protein gene PLP1) were analyzed together with the imaging findings.

RESULTS:

The clinical stage tended to be more severe when the whole brainstem, or corticospinal tract in the internal capsule showed abnormally high intensity on T2WI. Diffuse T2-high signal of brainstem was observed only in the patients with PLP1 point mutation. Myelination age "before birth" on T1WI is a second manifestation correlated with the clinically severe phenotypes. On the other hand, eight patients whose myelination ages were > 4months on T1WI were associated with mild clinical phenotypes. Four of them showed almost complete myelination on T1WI with a discrepancy in myelination age between T1WI and T2WI. A random and patchy pattern of myelination on T2WI was noted in one patient with PLP1 point mutation. Advanced myelination was observed in three of the seven followed-up patients. Four patients had atrophy of the cerebellum, and 17 patients had atrophy of the corpus callosum.

CONCLUSION:

Our multicenter study has demonstrated a wide variety of imaging findings of PMD. Signal intensity of brainstem and corticospinal tract of internal capsule would be the points to presume clinical severity in PMD patients. The spectrum of MRI findings should be kept in mind to diagnose PMD and to differentiate from other demyelinating leukodystrophies.

KEYWORDS:

Hypomyelination; Magnetic resonance imaging; PLP1 duplication; PLP1 point mutation; Pelizaeus–Merzbacher disease; Proteolipid protein

PMID:
26774704
DOI:
10.1016/j.braindev.2015.12.007
[Indexed for MEDLINE]

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