A 3-Year-Old Boy with Severe Anemia and Neutropenia

Sochet, Anthony A.; Jones, Amber; Riggs, Carl Daniel; Weibley, Richard E.

doi:10.3928/00904481-20121221-06

Cited by 3 publications

(8 citation statements)

References 7 publications

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“…On the other hand, myelodysplastic findings in blood cells arise due to any challenge during the course of normal differentiation and therefore these changes can be encountered not only in clonal disorders like MDS (primary myelodysplasia), but also in various nonclonal disorders affecting bone marrow like viral, bacterial, parasitic infections [17][18][19][20][21][22][23][24][25][26][27], autoimmune disorders (juvenile rheumatoid arthritis, polyarteritis nodosa, systemic lupus erythematosis, immune thrombocytopenic purpura) [17,[28][29][30][31][32], hemophagocytic histiocytosis (HLH), nutritional problems (malnutrition, iron deficiency anemia, megaloblastic anemia, copper deficiency, vitamin D deficiency, hyper vitaminosis A) [27,[33][34][35][36][37][38][39][40][41][42][43], neutropenia (congenital dysgranulopoietic, congenital severe, idiopathic) [32,44,45], inherited disorders [27,46,47], malign lymphoma [48], due to effects of drugs and toxins [17,27,[49][50][51][52]…”

Section: Dyserythropoiesis Dysgranulopoiesis Dysmegakaryopoiesismentioning

confidence: 99%

“…Copper is a cofactor of a number of enzymes (cuproenzymes) including those important for hematologic system like hephaestin, seruloplasmin (ferroxidases) and others like cytochrome c oxidase, superoxide dismutase 1, extracellular superoxide dismutase, and zyklopen, a new member of the vertebrate multicopper ferroxidase family Pregnant and lactating women, premature infants, those with malabsorption, inflammatory bowel diseases, celiac disease, long lasting diarrhea, short bowel syndrome, those under total parenteral nutrition, or nutrition through jejunal tube, those who underwent gastric resection, bariatric surgery; Wilsons' disease patients who consumed copper-depleting drugs, conditions with excess zinc are under risk of copper deficiency [37][38][39][40][41].…”

Section: Copper Deficiencymentioning

confidence: 99%

“…The time which lapses until appropriate diagnosis is made was reported as approximately 1 year. Early diagnosis is important since therapy after neurological symptoms have developed is difficult [40].…”

Section: Copper Deficiencymentioning

confidence: 99%

“…The most striking hematologic findings in copper deficiency are mono-, bi-, and pancytopenia [39][40][41]. Anemia which is the most common hematologic finding (97.5%) in copper deficiency is generally normochromic or macrocytic but rarely microcytic, being dependent on the severity of the deficiency.…”

Section: Copper Deficiencymentioning

confidence: 99%

“…The bone marrow is generally hypercellular [40] with increased myeloid and/or erythroid precursors mimicking myeloid and erythroid arrest, vacuolization in erythroid and myeloid precursors, increased iron stores, prominent ring sideroblasts, plasma cells in which hemosiderin is incorporated, increased hematogones [37] with [37,38], without [39] myelodysplasia. In MDS, generally erythroid hyperplasia [15] is encountered.…”

Section: Vacuolizationmentioning

confidence: 99%

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Disorders Mimicking Myelodysplastic Syndrome and Difficulties in its Diagnosis

Olcay¹,

Yetgin²

2016

Myelodysplastic Syndromes

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Myelodysplastic morphology of blood cells can be encountered not only in myelodysplastic syndrome (MDS) but also in nonclonal disorders like viral, bacterial, parasitic infections, juvenile rheumatoid arthritis, polyarteritis nodosa, immune thrombocytopenic purpura (ITP), iron deficiency anemia, megaloblastic anemia, dysgranulopoietic neutropenia, congenital neutropenia, cases with microdeletion 22q11.2, malignant lymphoma, after administration of granulocyte colony stimulating factor, chemotherapy, steroids, smoking, alcohol, posttransplantation, copper deficiency also, together with or without cytopenia. Absence of cytogenetic abnormality in 50-70% of cases with MDS, some overlapping morphological and/or pathophysiological features make it challenging to differentiate between MDS and other diseases/disorders like aplastic anemia, refractory ITP, copper deficiency. Transient genetic abnormalities including monosomy 7 in megaloblastic anemia; increased immature myeloid cells in bone marrow of cases with copper, vitamin B12, or folic acid deficiency in the setting of cytopenia and dysmorphism may also lead to the misdiagnosis of MDS. On the other hand, there are also cases of transient MDS. In this chapter, a literature is be presented to draw attention of the readers on the disorders that mimic MDS. Additionally, our personal experiences are also be shared. Awareness of disorders mimicking MDS may prevent over-or underdiagnosis of MDS.

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Section: Dyserythropoiesis Dysgranulopoiesis Dysmegakaryopoiesismentioning

confidence: 99%

Section: Copper Deficiencymentioning

confidence: 99%

Section: Copper Deficiencymentioning

confidence: 99%

Section: Copper Deficiencymentioning

confidence: 99%

Section: Vacuolizationmentioning

confidence: 99%

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Disorders Mimicking Myelodysplastic Syndrome and Difficulties in its Diagnosis

Olcay¹,

Yetgin²

2016

Myelodysplastic Syndromes

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Copper deficiency caused by excessive alcohol consumption

Shibazaki

Uchiyama²,

Tsuda

et al. 2017

BMJ Case Reports

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Copper deficiency is a disease that causes cytopaenia and neuropathy and can be treated by copper supplementation. Long-term tube feeding, long-term total parenteral nutrition, intestinal resection and ingestion of zinc are known copper deficiency risk factors; however, alcohol abuse is not. In this case, a 71-year-old man had difficulty waking. He had a history of drinking more than five glasses of spirits daily. He was well until 3 months ago. A month before his visit to our hospital, he could not eat meals but continued drinking. He had macrocytic anaemia on admission. Copper and ceruloplasmin levels were markedly low, and we diagnosed copper deficiency. There were no other known risk factors for copper deficiency. After he began drinking cocoa as a copper supplement, the anaemia ameliorated and he was able to walk. This is the first report showing alcohol abuse as a risk factor for copper deficiency.

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Copper Deficiency Anemia and Neutropenia Due to Ketogenic Diet

Chin

2018

Pediatrics

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Copper deficiency is an uncommon cause of hematologic abnormalities in children that is often overlooked or misdiagnosed. Although cases have been reported because of malabsorption syndromes or after gastrointestinal surgeries, we report a case of copper deficiency-associated anemia and neutropenia in a child because of dietary restrictions, specifically, transitioning from a formula-based ketogenic diet to a pureed food-based ketogenic diet. On copper supplementation, the patient's anemia and neutropenia resolved. To our knowledge, this report is the first revealing copper deficiency anemia and neutropenia developing because of a ketogenic diet.

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A 3-Year-Old Boy with Severe Anemia and Neutropenia

Cited by 3 publications

References 7 publications

Disorders Mimicking Myelodysplastic Syndrome and Difficulties in its Diagnosis

Disorders Mimicking Myelodysplastic Syndrome and Difficulties in its Diagnosis

Copper deficiency caused by excessive alcohol consumption

Copper Deficiency Anemia and Neutropenia Due to Ketogenic Diet

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