Neurocognitive Decline and Motor Regression in a 34-Year-Old Woman

Sumaira Nabi, MBBS; Zakir Jan, MBBS, FCPS Neurology; Muhammad Irshad, MBBS, FCPS Neurology


April 23, 2018

Physical Examination and Workup

Upon physical examination, the patient is overweight, agitated, and uncooperative. Her oral temperature is 98.6°F. She has a regular pulse of 78 beats/min. Her blood pressure is 110/80 mm Hg, and her respiratory rate is 14 breaths/min. Her Glasgow Coma Scale (GCS) is 12/15, with speech limited to incomprehensible sounds only. Her cranial nerves are grossly intact.

Funduscopic examination is consistent with mild, bilateral optic disc pallor. She has a spastic quadriparesis with hyperreflexia and bilateral extensor plantar response. Cerebellar signs and gait cannot be assessed. Signs of meningeal irritation are absent. Her abdomen is soft and nontender. No clinical evidence suggests organomegaly or ascites. Her bowel sounds are audible. The patient's precordial examination reveals normal heart sounds. The lung fields are clear to auscultation.

The laboratory analysis reveals a normal complete blood count, with an erythrocyte sedimentation rate of 10 mm/hour. Her liver function test results, renal function test results, muscle enzyme findings, electrocardiography images, chest x-ray, and abdominal ultrasonography are unremarkable. Her nerve conduction studies are inconclusive. Cerebrospinal fluid (CSF) analysis is normal; CSF oligoclonal band findings are also negative. Her thyroid function test results are normal as well. Antinuclear antibody and rheumatoid factor test results are negative.

MRI of the brain with contrast reveals areas of abnormal signal intensity diffusely in the white matter of both cerebral hemispheres, appearing hypointense on T1-weighted images and hyperintense on T2-weighted images and fluid-attenuated inversion recovery (FLAIR) sequences (Figures 1-6).

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These reveal involvement of the centrum semiovale and periventricular regions (predominantly in the posterior parietal lobe and the entire occipital lobe). Subcortical white matter is relatively spared. Mild, generalized cerebral atrophy is also observed. MRI of the cervicodorsal spine with contrast is unremarkable.


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