Pregnancy in multiple system atrophy: a case report

Abstract

Introduction: Multiple system atrophy is a late, adult-onset α-synucleinopathy with no data on the effect of pregnancy on the disease course. Early stage multiple system atrophy can be difficult to distinguish from Parkinson's disease.

Case presentation: We describe the case of an Irish woman with parkinsonism starting at age 31, initially diagnosed as having dopa-responsive, idiopathic Parkinson's disease, who successfully delivered a full-term child at age 35. Her pregnancy was complicated by severe orthostatic hypotension and motor fluctuations. Two years post-partum, she underwent bilateral subthalamic nuclei deep brain stimulation for intractable motor fluctuations and disabling dyskinesia. After this treatment course she experienced deterioration of motor symptoms and death eight years after disease onset. Post-mortem neuropathological examination revealed striatonigral degeneration and α-synuclein-positive glial cytoplasmic inclusions in brain stem nuclei, basal ganglia and white matter tracts, consistent with a neuropathological diagnosis of multiple system atrophy.

Conclusions: Multiple system atrophy can affect women of child-bearing age and pregnancy may be associated with marked disease progression.

Figure 1

(A-C) Macroscopic and microscopic features of our patient's brain (post-mortem). (A) Left: hemi-midbrain showing pallor of the substantia nigra (between arrows); right: control midbrain showing normal pigmentation. (B) Severe neuronal loss, microvacuolation, and gliosis in the substantia nigra of affected hemi-midbrain. Macrophages containing neuromelanin pigment (arrows). (C) Numerous glial cytoplasmic inclusions in the internal capsule. Stain types: (B), hematoxylin and eosin; (C), α-synuclein immunohistochemistry. Bars: 100 μm.

Figure 2

(A-C) α-Synucleinopathy. (A) Neuronal intra-nuclear inclusion and dystrophic neuritis. (B) Neuron in the pontine nuclei with intra-nuclear and pleomorphic neuronal cytoplasmic inclusions. (C) Intra-nuclear and cytoplasmic inclusions in oligodendrocytes. Stain types: (A-C), α-synuclein immunohistochemistry. Bars: 10 μm.