Abstract
A 64-year-old British Caucasian man presented with red skin wheals and breathlessness and then developed a progressive neurological syndrome. Investigation revealed hereditary haemachromatosis, porphyria, and a myelodysplastic syndrome. No unifying diagnosis was made, and his neurological symptoms remained unexplained, until further studies revealed an underlying copper deficiency.
Highlights
On liver ultrasound scan there was increased echogenicity and magnetic resonance imaging (MRI) suggested iron deposition
Chronic sensory ataxia can occur secondary to inherited conditions, infections, vitamin deficiency (e.g. B12, folate, vitamin E), toxins, paraneoplasia and immune syndromes (e.g. Sjogrens syndrome and inflammatory neuropathies)
Haemachromatosis can cause raised gastrointestinal absorption of zinc leading to accumulation, which could potentially predispose to secondary Cu deficiency [8]
Summary
Chronic sensory ataxia can occur secondary to inherited conditions (e.g. spinocerebellar ataxias, Friedrichs ataxia), infections (e.g. tabes dorsalis, HIV), vitamin deficiency (e.g. B12, folate, vitamin E), toxins (e.g. pyridoxine), paraneoplasia and immune syndromes (e.g. Sjogrens syndrome and inflammatory neuropathies). Paraneoplastic disease was considered, but PET scan, whole body CT, upper and lower GI endoscopy were all normal He was treated with B12 and has had this regularly since and commenced regular venesection which has successfully normalised iron stores. At this stage, this man with a profound sensory ataxia had accrued three new diagnoses of myelodysplasia, hereditary haemachromatosis and porphyria cutanea tarda; none of which explained his neurological phenotype. Cases can be associated with haematological problems and may or may not show MRI hyperintensities in brain and cord Zinc toxicity is another cause of copper deficiency [8]: Both copper and zinc are absorbed in the stomach and proximal duodenum. It is known that Clioquinol, a Cu/Zn chelating antibiotic used in Japan in the 1970’s, caused subacute myelooptico-neuropathy [9]
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