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Life Threatening? Yes
Write-up: Progressive muscle weakness resulting in flaccid paresis of all 4 extremities, respiratory insufficiency. 4/8/08-records received for DOS 2/4-2/17/08-DC DX: autoimmune motor neuropathy, provisional. Possible motor neuron disease. Admission 3/14-3/25/08-DC DX: Muscular weakness. Seizures. Received IVIG, treated with plasmapheresis. Admitted with C/O progressive muscular weakness over the 3 weeks prior to admission increased immunomodulation. Seizure after completion of solumedrol. Remained post ictal for several hours. No diagnosis made during this admission. Genetic evaluation for mitrochondrial disease sent to include evaluation for Pompe disease. In May sustained injury with pain in leg which improved but never returned completely to normal. Developed worsening limping and loss of strength in distal left lower extremity. Between August and October of 2007 developed symptoms in right arm. Received IVIG at that time and again January 2008 with improvement in right handed tremor but worsening function status especially in ambulation, stair climbing and standing from seated position. Feb 4-17 2008 hospitalized received plasmapheresis with improved ability to stand for short periods. C/O headaches and nausea. She may have chronic inflammatory demyelinating myopathy versus a multifocal motor neuropathy. After discharge to follow up with specialist in ALS. 4/16/08-records received-for DOS 1/2-1/3/08-DC DX: Multifocal neuropathy versus chronic demyelinating polyneuropathy. LP: mildly elevated protein of 46 with normal glucose. Unable to perform activities of daily living. IVIG treatment. PE: left lower and right upper extremity weakness and atrophy with some mild weakness of right lower extremity. 4/16/08-clinical consult case review template received: CPK increased of 313 and slightly elevated anticardiolipin IgM of 20.3. DX: chronic inflammatory demyelinating polyneuropathy. 1/2/08-urinary incontinence may have been due to her reduced ability to mobilize given her leg weakness. Plasmapheresis. 3/14/08-admitted for progressively worsening weakness and increased immunomodulation. During treatment with IV Solu-Medrol, one seizure and was post-ictal for several hours. Shortness of breath with vital capacity of 48%. Restrictive and obstructive component to her lung involvement. 4/5/08-DX: primary muscular atrophy the syndrome of progressive lower motor neuron loss. Third seizure during sleep study. Currently on a trial of Cytoxan. Impression: ten month history of progressive muscular weakness with lower motor neuron signs and status post multiple different trials of immunosuppressant medications. 4/16/08-records received-for DOS 1/2-1/3/08-DC DX: Multifocal neuropathy versus chronic demyelinating polyneuropathy.Unable to perform activities of daily living. IVIG treatment. PE: left lower and right upper extremity weakness and atrophy with some mild weakness of right lower extremity. 6/17/09 Autopsy report received from CDC - DOS 3/17/09 Clinical Diagnosis: Atypical progressive lower motor neuron disease, ventilator dependence, gastrostomy tube, hypercalcemia, seizures. I. Extensive demyelination, involving the lateral and anterior columns of the cervical, thoracic and lumbar spinal cord, with macrophage and lymphocytic infiltration. Severe loss of motor neurons, cervical, thoracic, and lumbar spinal cord. Rare neurons with amorphous cytoplasmic inclusions, frontal cortex, substantia nigra, locus ceruleus, medulla oblongata, and spinal cord. Neurogenic atropy, skeletal muscle. II. Acute brochopneumonia, lungs. III. Mild steatosis, liver. IV. Gastrostomy tube, stomach, in proper position. Follow-up: Paralysis - involving 4 extremities trunk and possibly the diaphragm given that her FVC = 27%. She also has significant persistent nausea / vomiting, intermittent abdominal pain, and extremity swelling. Her condition continues to deteriorate and now she is on BIPAP.
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