Abstract | INTRODUCTION: CASE REPORT: A 65-year-old man was evaluated for a new-onset of spastic quadriparesis, right-gaze preference, and left-sided beat nystagmus. Magnetic resonance imaging (MRI) of the brain revealed areas of white matter hyperintensities most prominent in the brainstem and periventricular regions. MRI of the cervical spine showed marked cord atrophy. Laboratory workup and cerebrospinal fluid analysis were unremarkable. Genetic testing supported the diagnosis of APBD due to GBE-1 deficiency. Postmortem analysis showed multiple white matter abnormalities suggestive of a leukodystrophy syndrome, and histopathologic testing revealed abnormal accumulation of polyglucosan bodies in samples from the patient's central nervous system supporting the diagnosis of APBD. CONCLUSION: APBD is a rare disorder that can affect the nervous system. The diagnosis can be confirmed with a combination of genetic testing and pathologic analysis of affected brain tissue.
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Authors | Jaspreet Johal, Ramiro Castro Apolo, Michael W Johnson, Michael R Persch, Adam Edwards, Preet Varade, Hussam Yacoub |
Journal | Hospital practice (1995)
(Hosp Pract (1995))
Vol. 50
Issue 3
Pg. 244-250
(Aug 2022)
ISSN: 2154-8331 [Print] England |
PMID | 33412965
(Publication Type: Case Reports, Journal Article)
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Topics |
- Adult
- Aged
- Glycogen Storage Disease
(complications, diagnosis, genetics)
- Humans
- Male
- Muscle Spasticity
- Nervous System Diseases
(diagnosis, pathology)
- Quadriplegia
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