|Dr. Howard Chang|
Wednesday, October 5, 2016
Guest Post from Howard Chang, MD, PhD: Unknown White Matter Disease
I am please to present a guest post from the illustrious Dr. Howard Chang of Michigan State University, who presents a perplexing case. Dr. Chang would be interested in reader comments. He writes: "I can use some help from our colleagues. Any advice (from anyone) on where and how to proceed for additional studies will be very much appreciated."
This is a case of a 12-year-old male with cerebral palsy, severe developmental delay (level 1-2 years), and seizures (stable, no seizure episodes since 2 years). He had progressive decline in neurological functions following flu-like illness. He received IVIG and steroids for clinical diagnosis of GBS-CIDP (18 months prior to death). Initially he showed some improvement, but neurological functions continued to decline, with multiple hospitalizations. MRI imaging studies (2 weeks prior to death) showed extensive abnormal signal of the cerebral and spinal white matter. He was made DNR. A general autopsy including brain and spinal cord was performed.
1. Atrophy of low extremity muscles and apparent atrophy of muscles of hands.
2. Cushingoid appearance with central obesity, skin striations, and adrenocortical atrophy (likely due to steroid therapy).
1. Extensive white matter atrophy-degeneration involving both the brain and spinal cord (leukoencephalomyelopathy) with:
A. Microcephalic brain (weight 1050 gm, normal should be about 1400 gm).
B. Bilateral cerebral white matter atrophy-degeneration, with extensive astrogliosis and loss of axons and myelin affecting the corpus callosum, and multifocal perivenous microcystic changes involving the centrum semiovale, subcortical white matter, with focal axonal spheroids in some of the microcystic areas.
C. Spinal cord with extensive microcystic degeneration of white matter tracts with loss of axons and myelin, affecting bilateral posterior, anterior and lateral columns. Focal loss of neurons within the spinal cord gray matter is noted, including the anterior horn motor neurons and those in the Clarke’s nuclei. The nerve roots appear relatively unremarkable.
D. Increased perivascular macrophages are noted within the brain and spinal cord sections, but there are no other areas of significant inflammation involving the brain or spinal cord parenchyma, or the nerve roots. There is no obvious evidence of abnormal cytoplasmic inclusions within either the neurons or glia.
2. Cerebral infarcts, small, involving the right occipital pole (subacute), and a lacunar (old) infarct superior to the right occipital horn of the lateral ventricle.