Contributed by Ewa Izycka-Swieszewska1, Malgorzata Swierkocka- Miastkowska2, Edyta Szurowska3, Eliza Lewandowska4,
Teresa Wierzba-Bobrowicz4, Krzysztof Jodzio5
1- Department of Pathomorphology; 2- Department of Neurology; 3- Department of Radiology, Medical University of Gdansk, Poland;
4- Department of Neuropathology, Institute of Psychiatry and Neurology, Warsaw, Poland;
5- Institute of Psychology, University of Gdansk, Poland
CLINICAL HISTORY AND NEUROIMAGING
A 31-year-old man was hospitalized due to retinitis and progressive personality changes that had started several weeks earlier. He was disorientated and had changes of affect with mood swings as well as signs and symptoms of dementia. Neuropsychologically the patient showed Balint's syndrome (paralysis of visual fixation, optic ataxia, and impairment of visual fixation) with anosognosia, visual and spatial agnosia, ideomotor and ideational apraxia, attention deficits and visual hallucinations. Electroencephalogram (EEG) showed non-specific abnormalities. The ophthalmological exam revealed retinitis with bilateral macular changes and partial atrophy of the optic nerves. Laboratory tests and cerebrospinal fluid (CSF) examinations were unremarkable. Magnetic Resonance Imaging (MRI) showed diffuse areas with high signal intensity in T2- weighted and FLAIR images involving periventricular and subcortical white matter of the occipital and parietal lobes. (Figures 1, 2). Furthermore, a focal 1cm mass lesion was detected in the sellar region. There was some clinical improvement with steroid treatment, but the patient refused further diagnostic procedures and was released to home.
He was stable for the next 2.5 years, but then developed behavioral changes with aggressiveness and hallucinations. At admission he was almost blind and had bilateral pyramidal tract signs and symptoms. EEG was desynchronized with diffuse slowing of background activity. T2-weighted and FLAIR MRI scans showed hyperintense areas mainly involving the temporal and parietal lobes, while the occipital lobes were atrophic (Figures 3, 4). CSF showed elevated gamma-globulins and further testing of the CSF yielded a diagnosis. Treatment with interferon and higher doses of steroids produced a good response for the next 10 months. He then developed seizures, painful myoclonic jerks, dystonias, spasticity and hyperalgesia. MRI scans showed increased size of the cystic suprasellar mass (2.5-3 cm), generalized cortical and subcortical atrophy with focal T2- hyperintense areas in the frontal lobe (Figure 5). The patient's condition deteriorated rapidly over the next few weeks, resulting in tetraparesis and a decerebrate state. He expired due to pneumonia 48 months after his initial symptoms.
PATHOLOGICAL AUTOPSY FINDINGS
The brain weighed 1010 g. The cortex was thinned with segmental blurring of the gray-white boundary. The white matter was yellowish, indurated and firm, but in the occipital lobes rarefactions were present. The cystic sellar tumor contained milky- grayish fluid. Histologically it was composed of connective tissue strands and septa lined with multilayered squamous epithelium with peripheral palisading of the nuclei (Figure 6).
In the brain tissue chronic changes of variable duration and distribution were found. The white matter findings included: perivascular and intraparenchymal lymphocytic and macrophage infiltrates, glial reaction, myelin loss and nuclear abnormalities within the glial cells. In the cortex neuronal cell loss, gliosis and sparse intranuclear inclusions were present (Figures 7). The inclusions were also apparent on epon-embedded thick sections stained with toluidine blue (Figure 8). The perivascular lymphocytic cuffs were CD3 and CD20- positive. Moreover the rod and ramified LCA (Figure 9), and CD68- positive cells (Figure 10) were scattered throughout the nervous tissue. The most intense lymphocytic and rod cells infiltrates and nodular concentrations were encountered in the frontotemporal regions, where multiple foamy macrophages and hypertrophic astrocytes were also noted (Figures 11, 12, 13). In the occipital and parietal lobes the myelin loss was most severe (Figure 14) and was accompanied by fibrillary gliosis as seen in a GFAP stained section ( Figure 15). Ultrastructural examination revealed abnormal tubular accumulations in both neuronal and oligodendroglial nuclei (Figures 16, 17).