Objective: To present a case of subacute combined degeneration of the spinal cord secondary to iatrogenic copper deficiency as a result of D-penicillamine therapy.

Background: The primary goal on Wilson’s Disease treatment is to remove excess of copper from the body and prevent accumulation recurrence.¹

Method: Case-report.

Results: A 24-year-old female presented with a subacute episode of upper limbs tremor, dysarthria and abnormal gait in 2012. At that time, she had a normal brain MRI and CSF analysis and received methylprednisolone based on a vasculitis hypothesis. She showed partial subjective improvement. Four years later, her involuntary movements worsened in addition to new behavioral changes, impulsivity, disinhibition and hypersexuality. MRI revealed diffuse signal change in the lentiform nuclei and pontine tegmentum. Elevated 24-hour urinary copper level (86 mcg/L) and reduced serum ceruloplasmin level (17 mg/dL) led to a diagnosis of WD. Liver function tests were normal and differential diagnoses were excluded. D-penicillamine was initiated and titrated up to 1250 mg per day. She improved from gait impairment, maintaining mild psychiatric symptoms. Later, she presented with progressive weakness in lower limbs for the last five months, being unable to walk.  Physical examination revealed distal weakness and hyperreflexia on both legs; abnormal cutaneous nociceptive reflex and clonus were seen on both feet. Vibration sense was absent from the knee down, maintaining normal pain and touch sensation. Kayser-Fleischer rings were documented. Serum copper was 24 mcg/dL (recommended: 80-150). Nerve conduction study was consistent with mild axonal sensory neuropathy in lower limbs. Brain MRI showed improvement regarding basal ganglia lesions, but spine MRI showed high T2 signal in the dorsal column in the cervical region. A diagnosis of subacute combined degeneration of the spinal cord was made. Differential diagnoses included B12 deficiency, spinal cord injury and exposure to heavy metal. D-penicillamine was discontinued and she was referenced to a rehabilitation program. After 4 months of follow-up, she showed partial recovery, being able to stand up with bilateral support.

Conclusion: Long term use of cooper depletors can result in excess removal. Early detection of cooper deficiency is crucial to prevent neurological deficits.^2,3. Protocols for this condition are still not well defined.

References: 1. Walshe JM. Penicillamine: The Treatment of First Choice for Patients With Wilson’s Disease. Movement Disorders, Vol. 14, No. 4, 1999. 2. Teodoro T, Neutel D, Lobo P, [et al]. Recovery after copper-deficiency myeloneuropathy in Wilson’s disease. J Neurol (2013) 260:1917–1918. 3. Silva-Júnior FP, Machado AAC, Lucato LT, Cançado ELR, Barbosa ER. Copper Deficiency Myeloneuropathy in a patient with WIlson Disease. Neurology 76 May 10, 2011.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/cooper-deficiency-myeloneuropathy-in-wilsons-disease-as-a-result-of-d-penicillamine-treatment-a-case-report/