Copper Deficiency Myeloneuropathy: An Atypical Presentation of Guillain-Barré Syndrome
Eric Lisznyai
Stephanie Phillips
Kajali Mishra
Sean Drake
Henry Ford Health System
05-01-2020
Copper (Cu) deficiency myeloneuropathy due to acquired Cu deficiency is both rare and debilitating. More women than men are affected, involving patients aged 32-80 years. Cu itself is a key component ..
more »Copper (Cu) deficiency myeloneuropathy due to acquired Cu deficiency is both rare and debilitating. More women than men are affected, involving patients aged 32-80 years. Cu itself is a key component of the nervous system, involved in electron transport, oxidative phosphorylation, antioxidant defense, catecholamine synthesis, and iron homeostasis. Afflicted patients usually present with anemia and leukopenia, along with subacute gait disorder with prominent sensory ataxia/spasticity, impaired vibration/position sense, and a positive Romberg sign. Etiologies of Cu deficiency include gastric surgery, zinc overconsumption, dietary deficiency, Celiac disease, Wilson's disease, cystic fibrosis, and IBS. We present the case of a 63 y.o. woman with past medical history of limited stage small cell lung cancer in complete remission for 6 months, COPD, hypertension, supraventricular tachycardia status post ablation who presented with a 2-month history of shortness of breath and weakness, numbness and paresthesias of bilateral upper/lower extremities. Patient reported increasing difficulty grasping objects, increasing gait impairment, and 6-8 falls during this period. Initial workup at outside hospital (OSH) included normal findings on MRI Brain, C-spine, T-spine and L-spine. A normal cell count and protein lumbar puncture (LP) ruled out Guillain-Barré Syndrome (GBS). CSF cytology was negative for malignant cells. Paraneoplastic labs including acetylcholine receptor antibody and voltage-gated calcium channel antibody were negative. Given the unknown etiology of the patient’s condition and her hypercoagulable state, Neurology at OSH deemed IVIG inappropriate. After transfer to our hospital, she displayed dysmetria and dysdiadochokinesia, diminished strength bilaterally, and fatigue. EMG showed diffuse primarily demyelinating > axonal polyradiculoneuropathy of the arms and legs concerning for peripheral demyelinating disease. Negative inspiratory force (NIF) was 60 and functional vital capacity (FVC) was 1350, thus mechanical ventilation was not indicated. She underwent plasmapheresis on 08/12/19 with concerns of GBS variant. IVIG was not considered with prior history of cancer. Repeat EMG on 08/23/19 showed worsening of the patient’s neuropathy with greater axon loss and motor unit dropout in proximal lower extremity muscles, with demyelinating features largely unchanged. Neurology recommended vitamin deficiency labs, including vitamins B1, B3, B6, B12, and E, folate, zinc, Cu and heavy metals. Patient had a Cu level of 473, and Neurology recommended lifelong elemental Cu supplements, 6 month pyridoxine supplementation, and avoidance of zinc supplementation, citing 6 weeks’ recovery time. Patient was discharged to a rehabilitation facility where her strength and sensation improved. She followed up with Neurology outpatient for care. We present an atypical case of GBS caused by Cu deficiency. While GBS was high on our differential in this case, it is believed to be autoimmune in origin. Therefore, negative work up for autoimmune disease should prompt investigation into vitamin or mineral deficiencies in a chronically debilitated patient as a potential root cause for neurologic dysfunction. While Cu deficiency is uncommon and requires years to manifest, it is important to consider in patients with ascending motor paralysis, gait issues, and sensory loss. Cu supplementation generally prevents further neurologic deterioration, but improvement of neurologic symptoms is variable and limited to sensory faculties. Most patients experience residual deficits, but hematologic parameters often respond well to therapy and respond completely.
Poster
Wayne State University
WSU Medical School
Medical Student
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Henry Ford Health System