Abstract
Background: Copper deficiency can lead to a severe myelopathy and cytopenia. The myelopathy can lead to inability to walk by paresis and deafferentation. The anemia can as well be severe with the need for blood transfusions. Beside innate reasons it occurs years after surgeries of the intestine and following disturbed resorption. It can also occur due to excessive intake of zinc that binds copper. An early diagnosis following copper substitution can lead to restitution. It can clinically be mistaken for a vitamin B12 deficiency. This circumstance can lead to a delayed treatment. Case: A 67 years old woman with severe gait disturbances, sensory ataxia was admitted to our hospital. She had the diagnosis of vitamin B12 deficiency. B12 was elevated and metabolites were in normal range. The electrophysiology showed a deafferentation of the legs. Objective: This case report provides detailed information about the course of diagnosis and the treatment of a severe copper deficiency with symptomatic myelopathy and cytopenia in an elderly woman. Methods: We performed a literature research with keywords “spinal cord disease, gait disturbances, elevated lactate in cerebrospinal fluid, anemia”. We did blood tests and CSF on a regular basis combined with clinical assessments and electrophysiology. Results: Serum copper was not detectable. CSF copper was reduced (8.7 µg/l, Ref.: 14.2-109 µg/l), CSF lactate was elevated (4.69 mmol/l, Ref.: 1.1-2.4 mmol/l). The patient had a cytopenia (Hb 6.6 g/dl, Ref.: 12-16 g/dl, MCV 130 fl, Ref.: 80-96 fl, leucocytes 2.3 10<sup>3</sup>, Ref.: 4.3-10 10<sup>3</sup>/µl). Vitamin B12 amounted to 891 pg/ml (Ref.: 191-663 pg/ml). The somatosensory evoked potential (SEP) study showed absent cortical responses after stimulation of the sural nerves bilaterally. Due to the diagnosis of a myelopathy and bone marrow dysfunction due to copper deficiency we substituted copper-histidine subcutaneously. This led to a marked improvement of symptoms, an increase of serum copper levels (141 µg/l), CSF copper levels (14.1 µg/l), hemoglobin (11.9 g/dl), leukocyte count (11.4 10<sup>3</sup>/µl) and a normalization of CSF lactate. Conclusion: Elevated CSF lactate might be an indicator for treatable myelopathy due to copper deficiency in patients with afferent gait disturbances. A timely substitution can lead to a marked improvement of even severe symptoms.
Highlights
The combination of acquired spinal cord dysfunction and cytopenia of blood cells is a syndrome caused by paraneoplastic and lymphoproliferative syndromes, HIV, vitamin B12 and folic acid deficiencies or copper deficiency [1]
The pathological features of hypocupremia are driven by the impairment of the multiple vital enzymatic processes in which copper acts as a cofactor, for example in the respiratory chain in mitochondria, the glucose metabolism, protection from oxidative stress, connective tissue biogenesis and neurotransmitter synthesis [4]
We present a case with hypocupremia induced myelopathy and cytopenia following a gastric resection, rapidly improving after substitution of copper
Summary
The combination of acquired spinal cord dysfunction and cytopenia of blood cells is a syndrome caused by paraneoplastic and lymphoproliferative syndromes, HIV, vitamin B12 and folic acid deficiencies or copper deficiency [1]. Neurological symptoms encompass severe sensory ataxia caused by lesions of dorsal columns with decreased vibratory and joint position senses as well as lesions of the lateral. Christoph Roland Seifert et al.: Neurological and Hematological Recovery Following Copper Replacement in Severe Copper Deficiency-induced Myelopathy and Cytopenia columns with spastic paraparesis. Copper deficiency associated myelopathy was first described only 20 years ago [5], and has not yet been included in the routine diagnostic workup of myelopathies accompanied by cytopenia. Timely detection of hypocupremia is paramount to the prevention and improvement of neurological deficits. We present a case with hypocupremia induced myelopathy and cytopenia following a gastric resection, rapidly improving after substitution of copper
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