Case Presentation: A 74 year old female presented with a 6 month history of worsening gait ataxia, paresthesias of extremities and progressive spastic paraparesis. She had undergone gastrojejunostomy 6 years ago for complicated peptic ulcer disease. [journals.lww.com]

Case #3 A 53-year-old man presented with anemia, leukopenia and neurological symptoms (Table 1). [haematologica.org]

After 4 weeks, 93% presented normal Cu, 7% presented hypocupremia, low albumin was present in 34%, and low transferrin in 52%. [scielo.isciii.es]

In particular, CSF oligoclonal bands (OCBs) are present in the majority of MS patients and can be suggestive of an MS diagnosis. However, OCBs are not specific to MS and may occur in other CNS inflammatory disorders. [n.neurology.org]

CASE PRESENTATION A 51-year-old Caucasian woman presented to our outpatient clinic for evaluation of pancytopenia. In July 2012, a complete blood count was performed (Table 1). [ncbi.nlm.nih.gov]

• Anemia

  TY - JOUR T1 - Copper deficiency in infants; a syndrome characterized by hypocupremia, iron deficiency anemia, and hypoproteinemia. [wwww.unboundmedicine.com]

  Hypocupremia occurred in an adult with sickle cell anemia who received zinc as an antisickling agent for two years. The hypocupremia was associated with microcytosis and relative neutropenia. [ncbi.nlm.nih.gov]

  Her past medical history included pernicious anemia, pancreatitis, and a cholecystectomy; there was no history of alcohol abuse. The patient had been treated for pernicious anemia without response. [haematologica.org]

  This patient's history opened her to many possible causes for anemia and neutropenia. [onlinelibrary.wiley.com]

  Correction of anemia and neutropenia in all patients indicates that copper deficiency was the underlying cause ( Table 2 ). [doi.org]

• Failure to Thrive

  Signs and symptoms : Signs and symptoms include failure to thrive, pallor, anemia, muscular hypotonia, short stature, repeated seizures, acne, deep philtrum, wide nasal bridge and early balding. [xpertdox.com]

  […] to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. [orpha.net]

  Differential Diagnoses Bone Marrow Failure Diamond Blackfan anemia Fanconi Anemia Kearns-Sayre Syndrome MELAS Syndrome Myelodysplastic Syndrome Neutropenia Nutritional Considerations in Failure to Thrive Shwachman-Diamond Syndrome Author Zora R Rogers [emedicine.staging.medscape.com]

• Numbness of the Feet

  His symptoms started five years prior to presentation with numbness in his feet; this was followed by progressive foot and hand weakness to the extent that he developed bilateral foot and wrist drop. [haematologica.org]

• Leg Pain

  Physical exam showed mild weakness in both legs that was attributed to leg pain, reduced sensation to pain up to the anterior thighs bilaterally, and impaired vibratory sensation up to her knees. [haematologica.org]

• Headache

  In men the symptoms are: Breast enlargement Muscle loss Decreased interest in sex (low libido) If a pituitary or other brain tumor is present (central hypogonadism), there may be: Headaches or vision loss Milky breast discharge (from a prolactinoma) Symptoms [medlineplus.gov]

  […] nausea, vomiting, constipation, polydipsia, polyuria, renal stones, hypertension Vitamin E Loss of reflexes, gait disturbance (posterior tract-spinocerebellar symptoms), paresis of gaze, eczema, psoriasis, poor wound healing, broken capillaries Fatigue, headache [emedicinehealth.com]

  If the cause is a brain tumor, symptoms may include headaches or vision loss and a milky discharge from the breasts. The two types of hypogonadism are called primary and central. [chop.edu]

  Adverse effects associated with therapy include headache, hot flushes, insomnia, increased blood pressure, acne, emotional labiality, and nervousness. [ncbi.nlm.nih.gov]

  Copper toxicity can have unpleasant and potentially fatal side effects, including (40, 41): Nausea Vomiting (food or blood) Diarrhea Stomach pain Black, “tarry” stools Headaches Difficulty breathing An irregular heartbeat Low blood pressure Coma Yellow [healthline.com]

• Neck Stiffness

  She also had nonspecific abdominal pain, constipation, nausea, arthralgias, back pain, myalgias, neck stiffness, weakness, and lightheadedness. [onlinelibrary.wiley.com]

Extensive workup is necessary to confirm the diagnosis. As for management, the earlier the intervention is initiated, the better prognosis would be for recovery. [ncbi.nlm.nih.gov]

[…] growth and maturation Testicular tissue testing: If the testes are not palpable and if it is not certain whether any testicular tissue is present, administering human chorionic gonadotropin (hCG) and measuring testosterone response may be helpful See Workup [emedicine.medscape.com]

Initial workup included normal serum vitamin B12 Bone marrow biopsy was suggestive of copper deficiency. Serum copper levels were later confirmed to be undetectable. [read.qxmd.com]

The patient was not on any psychotropic medications that predispose to aplastic anemia, but her prior psychiatric history and suicide attempt would prompt a workup for toxic ingestions. [onlinelibrary.wiley.com]

• Normocytic Anemia

  His past medical history was significant for gastroesophageal reflux disease, frequent alcohol and tobacco use, and chronic normocytic anemia and leukopenia. [haematologica.org]

  Vitamin B 12 has been associated with cognitive impairment and macrocytic anemia, while hypocupremia is associated with normocytic anemia and, as yet, there are no reports of cognitive impairment. [ahcmedia.com]

  normocytic patient 2 anemia neutropenia normocytic patient 3 anemia neutropenia microcytic patient 4 anemia neutropenia normocytic Hematological abnormalities in patients with copper deficiency erythroids myeloid ring sideroblasts iron granules in plama [bloodjournal.org]

  The anemia of copper deficiency often is associated with the presence of ringed sideroblasts and occurs in a number of clinical settings, including a microcytic, macrocytic, or normocytic anemia. [ncbi.nlm.nih.gov]

Copper-replacement treatment for symptomatic Menkes disease: ethical considerations. [seizure-journal.com]

CNS demyelination due to hypocupremia in Wilson's disease from overzealous treatment. [neurologyindia.com]

When the treatment is initiated in newborn babies prior to two months of age, the neurological degeneration may be prevented, but delayed treatment is considerably less effective. [doi.org]

However an overzealous treatment with zinc over a prolonged period can have its own dangers. [go.gale.com]

Treatment of hypocupremia consists of the prompt reversal of the deficiency with intravenous copper infusion, oral supplementation of copper, or both, depending on the severity of the condition. [aafp.org]

[…] retardation hypocupremia hypobetalipoproteinemia Home medical testing related to Mental retardation - hypocupremia - hypobetalipoproteinemia: Concentration -- Home Testing ADHD -- Home Testing Mental Health: Home Testing: Home Emotional Stress Tests Prognosis [checkorphan.org]

Treatment and prognosis Cocoa is often trialled initially as it contains copper naturally in reasonable amounts and is palatable to the patient 1. [radiopaedia.org]

As for management, the earlier the intervention is initiated, the better prognosis would be for recovery. There are several treatment options which should be tailored to every patient with neurologic Wilson disease. [ncbi.nlm.nih.gov]

Because early diagnosis and treatment seem to result in a better prognosis, the disorder is ideally detected before age 2 weeks. However, diagnostic accuracy of these tests is limited. Thus, other tests are being developed. [msdmanuals.com]

While the actual prevalence of copper deficiency is not known, our series of patients and those reported recently by others suggests that it may be an under-recognized etiology of anemia and neutropenia appearing as MDS. [doi.org]

It is increasingly evident that a multitude of etiologies can give rise to signal abnormality in the dorsal and lateral columns of the spinal cord, apart from pernicious anemia. [ncbi.nlm.nih.gov]

Etiology Hypogonadism is a clinical syndrome associated with impaired functional activity of the gonads. [amboss.com]

[…] typical presentation of copper deficiency mimics the more common vitamin B12 deficiency, which will usually need to be excluded first. blood dyscrasias e.g. anemia, leukopenia, thrombocytopenia neurotoxicity e.g. neuropathy, myelopathy, visual impairment Etiology [radiopaedia.org]

[…] type Article Language English Keyword (fr) HYPOCUPREMIE ETIOLOGIE ANEMIE HEMATIE FALCIFORME ACCIDENT MEDICAMENTEUX VOIE ORALE ZINC HOMME CHIMIOTHERAPIE HEMOPATHIE METABOLISME PATHOLOGIE ELEMENT MINERAL TRAITEMENT PHARMACOLOGIE Keyword (en) HYPOCUPREMIA ETIOLOGY [pascal-francis.inist.fr]

Epidemiology and natural history of inflammatory bowel diseases. Gastroenterology 140, 1785–1794 (2011). 16. Benchimol, E. I. et al. Epidemiology of pediatric inflammatory bowel disease: a systematic review of international trends. Inflamm. [nature.com]

Recent clinical evidence suggests that obesity is one of the most important risk factors for secondary hypogonadism in men.2–4 Although the actual prevalence of male obesity-related secondary hypogonadism (MOSH) is still unclear, large-scale epidemiological [touchendocrinology.com]

[…] of anosmia Prader-Willi syndrome Gaucher's disease Hypothalamic and/or pituitary lesions due to Neoplasm (e.g. prolactinoma, craniopharyngioma, astrocytoma) Trauma, surgery, irradiation Infection Eating disorders (functional hypothalamic amenorrhea) Pathophysiology [amboss.com]

Different patterns of clinical, neurological examination and electrophysiologic findings between hypocupremia and hypercupremia suggest different underlying pathophysiologies. [jns-journal.com]

Useful For Suggests clinical disorders or settings where the test may be helpful Diagnosis of: -Wilson disease -Primary biliary cirrhosis -Primary sclerosing cholangitis Clinical Information Discusses physiology, pathophysiology, and general clinical [mayomedicallaboratories.com]

Similarly, low testosterone promotes obesity, decreases REM sleep and deep sleep, thus negatively affecting sleep quality.48 The pathophysiological aspects of MOSH are summarised in Figure 2. [touchendocrinology.com]

This paper reviews the physiology and pathophysiology of disorders occurring during the postnatal activation of the gonadal axis. 34. Bergadá, I. et al. [nature.com]

We illustrate the importance of identifying these patients early to prevent irreversible neurological injury. © 2012 John Wiley & Sons A/S. [ncbi.nlm.nih.gov]

An understanding of the relation between WD and hepatocellular carcinoma will provide clues to help prevent hepatocellular carcinoma in patients with WD. [doi.org]

We illustrate the importance of identifying these patients early to prevent irreversible neurological injury. Biography Alemayehu A. [omicsonline.org]

We illustrate the importance of identifying these patients early to prevent irreversible neurological injury. Biography : Alemayehu A. [longdom.org]

Prevention - Mental retardation hypocupremia hypobetalipoproteinemia Not supplied. [checkorphan.org]