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Journal of Clinical Medicine Mar 2023Vitamin B12 (cobalamin CBL) is a water-soluble vitamin required to form hematopoietic cells (red blood cells, white blood cells, and platelets). It is involved in the...
BACKGROUND
Vitamin B12 (cobalamin CBL) is a water-soluble vitamin required to form hematopoietic cells (red blood cells, white blood cells, and platelets). It is involved in the process of synthesizing DNA and myelin sheath. Deficiencies of vitamin B12 and/or folate can cause megaloblastic anemia (macrocytic anemia with other features due to impaired cell division). Pancytopenia is a less frequent exordium of severe vitamin B12 deficiency. Vitamin B12 deficiency can also cause neuropsychiatric findings. In addition to correcting the deficiency, an essential aspect of management is determining the underlying cause because the need for additional testing, the duration of therapy, and the route of administration may differ depending on the underlying cause.
METHODS
Here, we present a series of four patients hospitalized for megaloblastic anemia (MA) in pancytopenia. All patients diagnosed with MA were studied for a clinic-hematological and etiological profile.
RESULTS
All the patients presented with pancytopenia and megaloblastic anemia. Vitamin B12 deficiency was documented in 100% of cases. There was no correlation between the severity of anemia and deficiency of the vitamin. Overt clinical neuropathy was present in none of the cases of MA, while subclinical neuropathy was seen in one case. The etiology of vitamin B12 deficiency was pernicious anemia in two cases and low food intake in the remaining cases.
CONCLUSION
This case study emphasizes the role of vitamin B12 deficiency as a leading cause of pancytopenia among adults.
PubMed: 36902847
DOI: 10.3390/jcm12052059 -
Gastroenterology Research Jun 2018() infection in humans is uncommon in the United States. Although there has been a drastic decline in the report of infection in this region, physicians should be...
() infection in humans is uncommon in the United States. Although there has been a drastic decline in the report of infection in this region, physicians should be aware of an uncommon presentation and its clinical relevance. We report a case of 55-year-old female of Ecuadorian/Peruvian origin who presented with an unknown cause of chronic right lower quadrant abdominal pain for 2 months without other particular symptoms. Initial workup revealed evidence of iron deficiency anemia, and stool occult blood test was positive. She was scheduled for a colonoscopy to assess the source of occult gastrointestinal bleeding. During her bowel preparation, she passed a 25 cm long white tapeworm-like material confirmed microscopically. Despite passing a worm she continued to have abdominal pain. During the colonoscopy, another worm was found lodged in the appendiceal orifice. The colonoscopic images revealed a segmented tapeworm showing contractile motility, approximately 12 cm in length and 6 mm wide in the appendiceal orifice. The scope was unsuccessful in removing the worm. The parasitological and microbiological examination of the passed worm was positive for . a fish tapeworm that infects humans after the ingestion of raw or undercooked fish. The patient had a history of often eating lightly marinated raw fish ("ceviche") in Peru several months before presentation. It is uncommon for infection to present with iron deficiency anemia. As the worm absorbs approximately 80% of dietary vitamin B12, prolonged infection usually causes vitamin B12 deficiency and megaloblastic anemia, which is reported to affect about 40% of cases. Abdominal pain related to mechanical obstruction is reported, but this case is unique in that the worm preferentially attached to the appendiceal orifice causing subacute focal appendiceal pain. She was treated with a single dose of oral praziquantel. After the treatment, she developed minor cramping for the next 2 days which resolved by day 3, and recalled passing half-inch sized pieces of white tissue and subsequently improved. Although infection is an uncommon cause of chronic abdominal pain with iron deficiency anemia, it is crucial to consider because of the potentially treatable outcome.
PubMed: 29915635
DOI: 10.14740/gr989w -
Human Mutation Jul 2017We developed a variant database for diabetes syndrome genes, using the Leiden Open Variation Database platform, containing observed phenotypes matched to the genetic...
We developed a variant database for diabetes syndrome genes, using the Leiden Open Variation Database platform, containing observed phenotypes matched to the genetic variations. We populated it with 628 published disease-associated variants (December 2016) for: WFS1 (n = 309), CISD2 (n = 3), ALMS1 (n = 268), and SLC19A2 (n = 48) for Wolfram type 1, Wolfram type 2, Alström, and Thiamine-responsive megaloblastic anemia syndromes, respectively; and included 23 previously unpublished novel germline variants in WFS1 and 17 variants in ALMS1. We then investigated genotype-phenotype relations for the WFS1 gene. The presence of biallelic loss-of-function variants predicted Wolfram syndrome defined by insulin-dependent diabetes and optic atrophy, with a sensitivity of 79% (95% CI 75%-83%) and specificity of 92% (83%-97%). The presence of minor loss-of-function variants in WFS1 predicted isolated diabetes, isolated deafness, or isolated congenital cataracts without development of the full syndrome (sensitivity 100% [93%-100%]; specificity 78% [73%-82%]). The ability to provide a prognostic prediction based on genotype will lead to improvements in patient care and counseling. The development of the database as a repository for monogenic diabetes gene variants will allow prognostic predictions for other diabetes syndromes as next-generation sequencing expands the repertoire of genotypes and phenotypes. The database is publicly available online at https://lovd.euro-wabb.org.
Topics: Adolescent; Adult; Anemia, Megaloblastic; Child; Child, Preschool; Databases, Genetic; Diabetes Mellitus; Exons; Family Health; Female; Genetic Association Studies; Genetic Variation; Genotype; Hearing Loss, Sensorineural; Homozygote; Humans; Male; Phenotype; Prognosis; Sensitivity and Specificity; Thiamine Deficiency; Wolfram Syndrome; Young Adult
PubMed: 28432734
DOI: 10.1002/humu.23233 -
Clinical Case Reports Jun 2020The case of thiamine-responsive megaloblastic anemia (TRMA) presented here speculates the need early diagnosis, continuous monitoring, follow-up, and regulated treatment...
The case of thiamine-responsive megaloblastic anemia (TRMA) presented here speculates the need early diagnosis, continuous monitoring, follow-up, and regulated treatment plan for the patients. Complications and systemic manifestations are likely to enhance in otherwise circumstances.
PubMed: 32577249
DOI: 10.1002/ccr3.2791 -
Cureus Dec 2021Vitamin B12 is an essential water-soluble vitamin that mediates multiple coenzymes needed for cell synthesis, mainly the red blood cells. Its deficiency is characterized...
Vitamin B12 is an essential water-soluble vitamin that mediates multiple coenzymes needed for cell synthesis, mainly the red blood cells. Its deficiency is characterized by megaloblastic anemia and neuropsychiatric symptoms. Macrocytosis is the classical picture seen usually, but having microcytosis is unlikely. We report a case series of three cousins with vitamin B12 deficiency who presented with microcytosis.
PubMed: 35111433
DOI: 10.7759/cureus.20741 -
Sudanese Journal of Paediatrics 2018Inborn errors of metabolism (IEM) are heterogeneous group of disorders that might present in the clinics or emergency departments in different phenotypes, and one of... (Review)
Review
Inborn errors of metabolism (IEM) are heterogeneous group of disorders that might present in the clinics or emergency departments in different phenotypes, and one of these is a diabetes scenario. Diabetes is the most common endocrine disorder among children. The mechanism of how IEM could lead to diabetes is unclear; however, the postulated pathogenesis consists of three mechanisms: 1) accumulation of toxic substance in the gland, ruining structure and normal functionality, 2) disturbing energy availability required for hormone synthesis and 3) defect of complex molecules. The differential diagnosis of IEM associated with hyperglycaemic ketoacidosis and diabetes include: organic acidemias specifically propionic acidemia, methylmalonic acidemia, isovaleric acidemia, hereditary hemochromatosis, aceruloplasminemia, holocarboxylase synthetase deficiency, β-ketothiolase deficiency and finally, cystinosis, Rogers syndrome (thiamine-responsive megaloblastic anaemia) and congenital disorders of glycosylation type Ia. Clinical approach will help in ready diagnosis and treatment for IEM disorders in early detection of diabetes. In this review, we will discuss the differential diagnosis, clinical features and diagnostic approaches of IEM presenting as hyperglycaemic ketoacidosis and diabetes.
PubMed: 30166758
DOI: 10.24911/SJP.2018.1.3 -
The Turkish Journal of Pediatrics 2018Güngör A, Yaralı N, Fettah A, Ok-Bozkaya İ, Özbek N, Kara A. Hereditary spherocytosis: Retrospective evaluation of 65 children. Turk J Pediatr 2018; 60: 264-269....
Güngör A, Yaralı N, Fettah A, Ok-Bozkaya İ, Özbek N, Kara A. Hereditary spherocytosis: Retrospective evaluation of 65 children. Turk J Pediatr 2018; 60: 264-269. Hereditary spherocytosis (HS) is a common cause of congenital hemolytic anemia in Caucasians and it could be diagnosed at any age. The aim of this study is to examine the demographic characteristics, clinical features and laboratory findings of children with HS and their complications observed during follow up. Sixty-five patients, with hereditary spherocytosis between January 2008 and September 2013, were enrolled into this retrospective study. The age of patients at the time of diagnosis varied between 15 days and 17 years. The median age of patients at diagnosis was 48 months (IQR 2-78). The female/male ratio was 1.1. Forty-seven patients (72.3%) had a family history of HS. The patients were classified according to laboratory findings: 13 of them (20%) were diagnosed as mild HS, 36 (55.4%) as moderate HS and of 16 (24.6%) as severe HS. During follow-up, nine patients (13.8%) experienced an aplastic crisis. Megaloblastic crisis was not observed in any patient. Twenty patients (30.8%) had cholelithiasis. Splenectomy was performed in 20% of patients and the mean age for splenectomy was 8.3 years. Complications such as sepsis or thrombosis were not detected after splenectomy. Hereditary spherocytosis should be kept in mind in patients with anemia, jaundice and splenomegaly and the family history must be questioned. The most common complication was gallstone; even patients without severe hemolysis should be followed intermittently by abdominal ultrasonography in order to control the development of gallstone.
Topics: Adolescent; Blood Cell Count; Child; Child, Preschool; Erythrocyte Transfusion; Female; Humans; Infant; Infant, Newborn; Male; Retrospective Studies; Spherocytosis, Hereditary; Splenectomy; Ultrasonography
PubMed: 30511538
DOI: 10.24953/turkjped.2018.03.005 -
Medicine Sep 2022Subacute combined degeneration (SCD), caused by vitamin B12 disorders, leads to severe degeneration of the spinal cord. Thus, it is significant to make timely diagnosis...
Subacute combined degeneration (SCD), caused by vitamin B12 disorders, leads to severe degeneration of the spinal cord. Thus, it is significant to make timely diagnosis and treatment options of SCD. The objectives were to summarize clinical features of different sate SCD. Clinical data of 42 SCD patients of spinal cord were retrospectively analyzed, which were classified into early stage, middle stage and late stage SCD. Among the patients, 9 were classified into early stage, 22 into middle stage, and 11 into late stage SCD. Total cholesterol and hemoglobin levels were relatively higher in late stage SCD. In contrast, mean corpusular volume (MCV) level was higher in early stage SCD. There were typical abnormalities only in 8 patients on magnetic resonance imaging (MRI), and a dynamia was a common neurological abnormality in all patients. Importantly, the differences in abnormal findings in anti-nuclear antibodies (ANA) testing, visual acuity and fundus testing were statistically significant in different stage SCD (P < .05). There were correlation between most variances with SCD stage. Strikingly, there existed close relationship between enhanced levels of blood glucose (r = -0.289, P = .066), glycated hemoglobin (GHB) (r = -0.288, P = .068) and homocysteine (r = -0.563, P = .000), abnormal visual findings (r = 0.309, P = .049) and megaloblastic anemia (r = -0.295, P = .061) with different SCD stage, among which abnormal visual findings were closely associated with middle stage SCD. Moreover, levels of total cholesterol, blood glucose, homocysteine and abnormal finding of visual acuity were significant in diagnosis and clinical staging of SCD (P < .05). Although MRI scanning and serum vitamin B12 level were widely used for SCD diagnosis, neurological examination and homocysteine level may be more potentially valuable indexes for SCD diagnosis and staging.
Topics: Blood Glucose; Cholesterol; Glycated Hemoglobin; Homocysteine; Humans; Retrospective Studies; Sodium Oxybate; Subacute Combined Degeneration; Vitamin B 12
PubMed: 36123908
DOI: 10.1097/MD.0000000000030420 -
Journal of the Formosan Medical... Nov 2016Serum gastric parietal cell antibody (GPCA), thyroglobulin antibody (TGA), and thyroid microsomal antibody (TMA) are found in some erosive oral lichen planus (EOLP)...
BACKGROUND/PURPOSE
Serum gastric parietal cell antibody (GPCA), thyroglobulin antibody (TGA), and thyroid microsomal antibody (TMA) are found in some erosive oral lichen planus (EOLP) patients. This study assessed whether serum GPCA, TGA and TMA and EOLP itself played significant roles in causing anemia and hematinic deficiencies in TGA/TMA-positive EOLP patients with GPCA positivity (GPCA/TGA/TMA/EOLP patients) or negativity (GPCA/TGA/TMA/EOLP patients).
METHODS
The mean corpuscular volume (MCV) and mean blood hemoglobin (Hb), iron, vitamin B12, and folic acid levels were measured and compared between any two of the four groups of 29 GPCA/TGA/TMA/EOLP patients, 80 GPCA/TGA/TMA/EOLP patients, 198 all antibodies-negative EOLP patients (Abs/EOLP patients), and 218 healthy control individuals.
RESULTS
GPCA/TGA/TMA/EOLP patients had significantly lower mean Hb and vitamin B12 levels as well as significantly greater frequencies of Hb, iron, and vitamin B12 deficiencies than healthy controls. GPCA/TGA/TMA/EOLP patients had significantly lower serum vitamin B12 level and higher MCV as well as a significantly greater frequency of vitamin B12 deficiency than GPCA/TGA/TMA/EOLP patients. Furthermore, both GPCA/TGA/TMA/EOLP and Abs/EOLP patients did have significantly lower mean Hb, MCV, and iron (for women only) levels, as well as significantly greater frequencies of Hb and iron deficiencies than healthy controls. However, there were no significant differences in measured blood data between GPCA/TGA/TMA/EOLP and Abs/EOLP patients.
CONCLUSION
We conclude that serum GPCA is the major factor causing vitamin B12 deficiency, macrocytosis and pernicious anemia in GPCA/TGA/TMA/EOLP patients. ELOP itself but not TGA/TMA positivity plays a significant role in causing anemia and hematinic deficiencies in GPCA/TGA/TMA/EOLP patients.
Topics: Adult; Aged; Aged, 80 and over; Anemia, Pernicious; Autoantibodies; Case-Control Studies; Erythrocyte Indices; Female; Folic Acid; Hemoglobins; Humans; Iron; Lichen Planus, Oral; Male; Middle Aged; Parietal Cells, Gastric; Taiwan; Vitamin B 12; Vitamin B 12 Deficiency
PubMed: 27802920
DOI: 10.1016/j.jfma.2016.09.007 -
Journal of Ayub Medical College,... 2023Thiamine-responsive megaloblastic anaemia (TRMA) is characterized by the classic trio of diabetes mellitus, sensorineural hearing loss, and megaloblastic anaemia,...
Thiamine-responsive megaloblastic anaemia (TRMA) is characterized by the classic trio of diabetes mellitus, sensorineural hearing loss, and megaloblastic anaemia, typically emerging subtly between infancy and adolescence. Administration of high-dose thiamine often yields improvements in anaemia and occasionally in diabetes. Uncommon manifestations include optic atrophy, congenital heart defects, short stature, and stroke. In this specific case, a 5-year-old diagnosed with insulin-dependent diabetes mellitus (IDDM) since the age of one presented with symptoms such as polyuria, fever, and vomiting, revealing an HbA1c of 10.64. Further examinations disclosed compromised hearing and vision. A negative antibody workup and a thyroid profile indicating hypothyroidism prompted additional investigations, including Brainstem Evoked Response Audiometry (BERA) and retinal examination, confirming bilateral sensorineural hearing loss and maculopathy, respectively. A comprehensive blood count unveiled megaloblastic anaemia. Genetic profiling confirmed a homozygous mutation in the SLC19A2 gene, thus diagnosing TRMA. An early diagnosis, coupled with genetic confirmation, enables timely intervention, with patients responding positively to high-dose thiamine. Genetic counselling plays a pivotal role in enlightening families about the disease and its inheritance patterns, fostering awareness and understanding.
Topics: Humans; Child, Preschool; Thiamine Deficiency; Thiamine; Anemia, Megaloblastic; Hearing Loss, Sensorineural; Hypothyroidism; Diabetes Mellitus; Membrane Transport Proteins
PubMed: 38406914
DOI: 10.55519/JAMC-S4-12486