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Menkes Disease Case courtesy of Dr Prashant Gupta , Radiopaedia.org, rID: 18273

These cases are patients who I, or my colleagues have seen. They are deidentified and many instances have been presented in more depth in an academic setting. These videos are not individual medical advice and are for general educational purposes only. I do not give medical advice over the internet.

Some images licensed by Getty Images, Adobe Stock, Science Photo Library

References:

The Essential Toxin: Impact of Zinc on Human Health. Int J Environ Res Public Health. 2010 Apr; 7(4): 1342–1365. https://www.ncbi.nlm.nih.gov/pmc/arti...

No contribution of ascorbic acid to renal calcium oxalate stones. Ann Nutr Metab. 1997;41(5):26982. https://pubmed.ncbi.nlm.nih.gov/9429689/

Acute oxalate nephropathy after massive ascorbic acid administration. Arch Intern Med. 1985 May;145(5):9501. https://pubmed.ncbi.nlm.nih.gov/3994472

Hypocupremia induced by zinc therapy in adults. JAMA. 1978 Nov 10;240(20):21668. https://pubmed.ncbi.nlm.nih.gov/359844/

Mammalian zinc homeostasis: requirement for RNA and metallothionein synthesis. Biochem Biophys Res Commun. 1975 Jun 16;64(4):121523. https://pubmed.ncbi.nlm.nih.gov/1137597/

Copper deficiency myelopathy produces a clinical picture like subacute combined degeneration. Neurology. 2004;63(1):33. https://pubmed.ncbi.nlm.nih.gov/15249...

Motor neuron disease associated with copper deficiency. Muscle Nerve. 2006;34(6):789. 

Case of sensory ataxic ganglionopathymyelopathy in copper deficiency. J Neurol Sci. 2009;277(12):184. 

Ascorbic Acid Supplements and Kidney Stone Incidence Among Men: A Prospective Study. https://jamanetwork.com/article.aspx?...

An Element of Unsteadiness. N Engl J Med 2017; 377:13791385.

Ascorbic Acid Intake and Oxalate Synthesis. Urolithiasis. 2016 Aug; 44(4): 289–297. https://www.ncbi.nlm.nih.gov/pmc/arti...

Copper deficiency myelopathy: a report of two cases. J Spinal Cord Med 2015;38:559562

Copper deficiency myelopathy (human swayback). Mayo Clin Proc 2006;81:13711384