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Washington University Experience | MYELIN (NON-IMMUNE MEDIATED) | Neuroaxonal Leukodystrophy | 6A0 Case 6 History
Case 6 History ---- The patient was a 45-yo woman with a 15-mo history of a progressive neurologic disease. In January 1997 she had a gait problem, neck pain, and headache in addition to the back pain, and paresthesias, thought to reflect cervical spondylosis. In July 1997, her speech was slow but did not show verbal language dysfunction. Cranial Nerves II-XII were generally intact with cogwheel horizontal and vertical gaze. She had severe spastic dysplastic lower extremities, hyperesthesia of the left leg but no weakness. Reflexes were 2+, symmetric and brisk in the upper extremities. Reflexes were 3+ to 4+ at the knees and ankles with bilateral Babinski response positive. Her gait was unsteady with a mincing and tottering quality. NCV tests of the median and tibial nerves were thought to represent peripheral nerve or lumbar spine disease. She felt shaky with no tremor. She complained of blurring vision. She was diagnosed with presumable progressive leukodystrophy and treated with prednisone, although a definite diagnosis could not be made. The differential diagnosis included adrenal leukodystrophy, metachromatic leukodystrophy, CNS tumors such as lymphoma, and PML. SPEP, peroxisomal panel (serum), leukocyte arylsulfatase and mitochondria DNA analysis were normal with a low frequency of a 5-Kb mDNA deletion. She had normal cortisone levels and a normal ACTH stimulation test. MRI revealed extensive signal abnormalities in the brainstem, thalamus, and deep white matter. Severe parietal occipital cortical atrophy was documented. She had urosepsis, diarrhea, parotitis and facial cellulitis. Her neurodegenerative course did not improve with steroid treatment. She finally became bedridden with spastic extremities and difficulty swallowing. Her speech became extremely dysarthric and her mentation was slower. She was treated unsuccessfully for presumptive vasculitis with Cytoxan and steroids. She failed to respond to therapy and died at home in March, 1998.
