No white matter abnormalities in untreated patients with persistent hyperphenylalaninaemia: Findings in magnetic resonance imaging

1994 ◽  
Vol 153 (12) ◽  
pp. 918-919 ◽  
Author(s):  
J. Weglage ◽  
K. Ullrich ◽  
G. Schuierer ◽  
M. Pietsch ◽  
B. Fünders
Keyword(s):  
Magnetic Resonance Imaging ◽  
White Matter ◽  
Magnetic Resonance ◽  
Resonance Imaging ◽  
White Matter Abnormalities

Progressive Asymmetrical Limb Impairment and Cognitive Decline With Leukoencephalopathy

2021 ◽  
pp. 174-176
Author(s):  
B. Mark Keegan
Keyword(s):  
Magnetic Resonance Imaging ◽  
Cerebrospinal Fluid ◽  
White Matter ◽  
Magnetic Resonance ◽  
Cognitive Decline ◽  
Neuron Specific Enolase ◽  
Adult Onset ◽  
Resonance Imaging ◽  
Axonal Spheroids ◽  
White Matter Abnormalities

A 41-year-old man sought care for progressive left-sided impairment over many months consistent with progressive left hemiapraxia and left hemiparesis and cognitive decline. He also exhibited features of the alien limb phenomenon, with the left arm grabbing things involuntarily. He had no prior medical disorders and no family history of significant neurologic disorders. Initial evaluations with brain magnetic resonance imaging showed evidence of bilateral, asymmetrical, severe white matter abnormalities, right greater than left hemisphere. There was no gadolinium enhancement. Cervical and thoracic spine magnetic resonance imaging findings were normal. The magnetic resonance imaging white matter abnormalities progressed over serial imaging. Cerebrospinal fluid assessment was normal except for increased neuron-specific enolase value, without increased white blood cells, immunoglobulin G index, or unique cerebrospinal fluid oligoclonal bands. A brain biopsy of the right hemispheric white matter showed marked axonal spheroids on hematoxylin and eosin staining, as well as on electron microscopy. A diagnosis of sporadic, adult-onset, diffuse leukoencephalopathy with axonal spheroids was made. There are no known treatments for diffuse leukoencephalopathy with axonal spheroids. Treatment is symptomatic only, directed by physical medicine and rehabilitation experts and cognitive experts. Continued rapid worsening of the patient’s ambulatory dysfunction over months required increasing use of gait aids, including a cane and wheelchair. He had development of neurogenic bladder dysfunction and pseudobulbar-associated emotional incontinence. His condition progressed leading to death 29 months after onset of his neurologic dysfunction. This case patient had common features of sporadic, adult-onset, diffuse leukoencephalopathy with axonal spheroids, with progressive neurologic degeneration typically over months to a few years, often with substantial asymmetry in presentation.

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