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Washington University Experience | METABOLIC | Neuronal Ceroid Lipofuscinosis (NCL) | 6A0 Case 6 History
Case 6 History ---- This 73 year old man with a 20 year history of parkinsonism was admitted to BJH for evaluation of progressive mental deterioration and the onset of involuntary movements. The patient had a shuffling gait, stiffness, a tremor at rest with quiet slow speech. Five years after the onset of these symptoms, the patient was started on L-Dopa with a decrease in stiffness but continued to have a progressive course over the subsequent years. Symmetrel (amantadine hydrochloride) was given with no real improvement. He developed visual hallucinations. Three months prior to admission, the patient had marked weight loss with increasing lethargy. He was falling asleep frequently and was difficult to arouse. His medications were decreased with some improvement in lethargy. However, gradually he became more confused, was unable to feed himself, and for this reason was admitted to the hospital. On examination he was wasted, lethargic although easily aroused, having intermittent choreiform movements of the face and all extremities. The patient exhibited slight control over movements, but they returned when the patient was distracted. Movements also involved the face and tongue. There was frequent dystonic posturing of all limbs and trunk. There were positive grasp, suck, and snout reflexes. The rnyoclonus did not improve. CT scan showed no focal changes. In September of 1980, the patient developed Cheynes-Stokes respiration with no spontaneous movement. There were no extra-ocular movements, no corneal reflex and no response to cold calorics bilaterally. He responded to pain in all extremities. Bilateral Babinski responses were present. This episode was thought to reflect brainstem ischemia secondary to possible myocardial infarction. The patient developed ventricular tachycardia and ventricular fibrillation. He required cardioversion and Lidocaine. He had a progressive downhill course and died.
