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Constitutional Megaloblastic Anemia due to Folate Metabolism Disorder

Hereditary folate malabsorption


Presentation

  • Macrocytes (larger than normal RBCs) are present. Ovalocytes (oval-shaped RBCs) are present. Howell-Jolly bodies (chromosomal remnant) also present. Blood chemistries will also show: An increased lactic acid dehydrogenase (LDH) level.[en.wikipedia.org]
  • Presentation; Pancytopenia (peripheral blood counts for all three lineages is decreased), bone marrow hypoplasia (cellularity 10%). Clinical: Anemia, bleeding, infections.[freezingblue.com]
  • . - PowerPoint PPT Presentation Slayt 1 CONSTITUTIONAL APLASTIC ANEMIA(FANCON ANEMIA) Characterized by defective DNA repair that is caused by a variety of genetic mutations Autosomal recessive Hematologic manifestations usually begin withthrombocytopenia[docslide.net]
  • Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.[ncbi.nlm.nih.gov]
Epilepsy
  • Clinical features include variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy, to childhood absence epilepsy with learning difficulties, to lack of symptoms.[malacards.org]
  • ., 2011) to childhood absence epilepsy with learning difficulties to lack of symptoms (Cario et al., 2011). Treatment with folinic acid can ameliorate some of the symptoms.[ncbi.nlm.nih.gov]
  • Clinical features include variable neurologic CC symptoms, ranging from severe developmental delay and generalized CC seizures in infancy, to childhood absence epilepsy with learning CC difficulties, to lack of symptoms.[genome.jp]
Asymptomatic
  • […] iron Low socioeconomic status Exclusive breastfeeding (without solid or formula supplementation) beyond the age of 6 months Perinatal blood loss Teenage females (if menstruation is heavy or if pregnant) Clinical FindingsMild iron deficiency Usually asymptomatic[docslide.net]
  • 1. signs/symptoms a. may be asymptomatic b. fatigue, weakness, anorexia, wt loss, generalized lymphadenopathy 2. labs/diagnostics a.[flashcardbook.com]
Pathologist
  • Comprehensive in scope, it's a must-have resource for both residents and practicing pathologists alike. Authored by the chief architects of the WHO classification in neoplasms of hematopoietic and lymphoid tissue.[books.google.com]
Feeding Difficulties
  • Feeding difficulties MedGen UID: 65429 • Concept ID: C0232466 • Finding Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.[ncbi.nlm.nih.gov]
Localized Pain
  • الصفحة 317 - No response (1), extension to pain (2), flexion to pain (3), withdrawal from pain (4), localizing pain (5), and obeying commands (6). ‏ الصفحة 399 - A polyarticular arthritis develops over time and becomes chronic in course.[books.google.com]
Pneumonia
  • […] effects Male Female Male Malignant neoplasms Meningitis Motor vehicle myocardial infarction nephrotic syndrome Newborn affected Ninth Revision International Ninth Revision lnternational Numbers after causes obstruction period of gestation peritoneum Pneumonia[books.google.com]
  • […] findings related to replacement of normal bone marrow with malignant cells; gingival bleeding, epistaxis, menorrhagia; infxns fm neutropenia commonly caused by gm-neg bacteria or fungi (common presentations-cellulitis, pneumonia, perirectal infxn) How[studystack.com]
Jaundice
  • Affiliated tissues include neutrophil , and related phenotypes are jaundice and pallor OMIM : 57 Dihydrofolate reductase deficiency is an autosomal recessive metabolic disorder characterized by the hematologic findings of megaloblastic anemia and variable[malacards.org]
  • Clinical jaundice usually is a sign of LIVER dysfunction. Pallor MedGen UID: 10547 • Concept ID: C0030232 • Finding A clinical manifestation consisting of an unnatural paleness of the skin.[ncbi.nlm.nih.gov]
  • Folic acid deficiencyInadequate dietary intake ( goat milk) Malabsorbtion ( celiac disease) Increased folate requirements Anticonvulsan medication ( phenobarbital, pheyntoin) Cytotoxic drugs ( methotrexate) Prematurity Clinical FindingsPallor Mild jaundice[docslide.net]
  • […] splenectomy Hereditary Spherocytosis - genetic cause and presentation nIn most patients (70%) autosomal dominant inheritance Most prevalant in Northern European decent Presents as hemolytic anemia Hereditary Spherocytosis - dx - clinical feature anemia, Jaundice[freezingblue.com]
Liver Dysfunction
  • Clinical jaundice usually is a sign of LIVER dysfunction. Pallor MedGen UID: 10547 • Concept ID: C0030232 • Finding A clinical manifestation consisting of an unnatural paleness of the skin.[ncbi.nlm.nih.gov]
Hepatomegaly
  • Hepatomegaly MedGen UID: 42428 • Concept ID: C0019209 • Finding Abnormal enlargement of the liver.[ncbi.nlm.nih.gov]
Small Head
  • An abnormally small head, irritability, developmental delay, seizures, blindness and cerebellar ataxia can also be observed. [4] Causes [ edit ] A deficiency of folate can occur when the body's need for folate is increased, when dietary intake or absorption[en.wikipedia.org]
Impulsivity
  • الصفحة 147 - This impulse starts in the sinoatrial (SA) node, a collection of pacemaker cells located at the junction of the right atrium and superior vena cava. ‏[books.google.com]
Seizure
  • Clinical features include variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy, to childhood absence epilepsy with learning difficulties, to lack of symptoms.[malacards.org]
  • Absence seizures MedGen UID: 4989 • Concept ID: C0014553 • Disease or Syndrome Recurrent absence seizures are generalized seizures and are characterized by a loss of consciousness, thus, are a form of dialeptic seizures.[ncbi.nlm.nih.gov]
  • Signs and Symptoms Absence seizures ... ...[familydiagnosis.com]
  • An abnormally small head, irritability, developmental delay, seizures, blindness and cerebellar ataxia can also be observed. [4] Causes [ edit ] A deficiency of folate can occur when the body's need for folate is increased, when dietary intake or absorption[en.wikipedia.org]
Learning Difficulties
  • Clinical features include variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy, to childhood absence epilepsy with learning difficulties, to lack of symptoms.[malacards.org]
  • ., 2011) to childhood absence epilepsy with learning difficulties to lack of symptoms (Cario et al., 2011). Treatment with folinic acid can ameliorate some of the symptoms.[ncbi.nlm.nih.gov]
Generalized Seizure
  • Clinical features include variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy, to childhood absence epilepsy with learning difficulties, to lack of symptoms.[malacards.org]
  • Absence seizures MedGen UID: 4989 • Concept ID: C0014553 • Disease or Syndrome Recurrent absence seizures are generalized seizures and are characterized by a loss of consciousness, thus, are a form of dialeptic seizures.[ncbi.nlm.nih.gov]
Meningism
  • […] mellitus disorders elsewhere classified Female Male Female fetal deaths gestation glomerulonephritis heart disease hemorrhage Hispanic Includes each three-digit infection intestinal Intrauterine hypoxia Late effects Male Female Male Malignant neoplasms Meningitis[books.google.com]
  • Thrombocytopenia-absent radius syndrome Thrombotic thrombocytopenic purpura Thyroid lymphoma Transcobalamin deficiency Transient erythroblastopenia of childhood Tumor of cranial and spinal nerves Tumor of hematopoietic and lymphoid tissues Tumor of meninges[se-atlas.de]
Dysmetria
  • This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia[ncbi.nlm.nih.gov]

Workup

  • Differential Diagnoses Other Problems to Be Considered Alcoholic cirrhosis Alzheimer disease Cestode infection Neurologic disorders Senility Workup Laboratory Studies Peripheral blood: The peripheral blood usually shows a macrocytic anemia with a mild[obesityhelp.com]
Enlargement of the Liver
  • Hepatomegaly MedGen UID: 42428 • Concept ID: C0019209 • Finding Abnormal enlargement of the liver.[ncbi.nlm.nih.gov]
Hepatocellular Carcinoma
  • الصفحة 3 - B surface antibody HBsAg hepatitis B surface antigen HBV hepatitis B virus HCC hepatocellular carcinoma HCV hepatitis C virus... ‏[books.google.com]

Treatment

  • See also the following treatment articles: Treatments for Anemia Causes See also causal information: Causes of Megaloblastic anemias Causes of Anemia Similar Topic Articles Megaloblastic anemia Anemia Dihydrofolate reductase deficiency Names and Terminology[familydiagnosis.com]
  • Authored by international experts in the field, it covers a broad range of hematologic disorders -- both benign and malignant -- with information on the pathogenesis, clinical and pathologic diagnosis, and treatment for each.[books.google.com]
  • Treatment with folinic acid can ameliorate some of the symptoms. (613839)[malacards.org]
  • Liver extract for the treatment of pernicious anaemia. Br Med J 1928;1:463. Collip JB: A method of preparation of a liver extract powder for the treatment of pernicious anaemia. Can Med Assoc J 1928;18:392–393.[karger.com]

Prognosis

  • PMID: 24156255 Free PMC Article Prognosis Storm T, Zeitz C, Cases O, Amsellem S, Verroust PJ, Madsen M, Benoist JF, Passemard S, Lebon S, Jønsson IM, Emma F, Koldsø H, Hertz JM, Nielsen R, Christensen EI, Kozyraki R BMC Med Genet 2013 Oct 24;14:111. doi[ncbi.nlm.nih.gov]
  • Spinal NUR 221 - Ch 20 WB - Nursing Management : Patients with Hematologic Disorders manifestations, management , and prognosis. Discuss nursing management of patients with lymphoma or multiple myeloma.[flashcardbook.com]

Etiology

  • Etiology Drugs 1985 Aug;30(2):145-55. doi: 10.2165/00003495-198530020-00003.[ncbi.nlm.nih.gov]
  • Diseases/etiology; Optic Nerve Diseases/pathology; Optic Nerve Diseases/physiopathology Abstract A review was conducted to examine the characteristics and pathogenesis of nutritional amblyopia.[collections.lib.utah.edu]
  • […] define 2. etiology? 3. signs/symptoms related to constitutional, respiratory? A.[flashcardbook.com]
  • Castle WB, Ham TH: Observations on the etiologic relationship of achylia gastrica to pernicious anemia. V.[karger.com]
  • […] nHereditary Spherocytosis nHereditary Elliptocytosis nSouth Asian Ovalocytosis nAcanthocytosis and related disorders nRh deficiency syndrome Most common RBC membrane disorder nHereditary Spherocytosis nHereditary Elliptocytosis Hereditary Spherocytosis - etiology[freezingblue.com]

Epidemiology

  • Subject Amblyopia/etiology; Amblyopia/pathology; Amblyopia/physiopathology; Cuba/epidemiology; Humans; Nutrition Disorders/complications; Nutrition Disorders/pathology; Nutrition Disorders/physiopathology; Optic Nerve Diseases/epidemiology; Optic Nerve[collections.lib.utah.edu]
  • Genatlas disease for DHFR Gene anemia,megaloblastic Relevant External Links for DHFR Genetic Association Database (GAD) DHFR Human Genome Epidemiology (HuGE) Navigator DHFR Atlas of Genetics and Cytogenetics in Oncology and Haematology: DHFR Correlations[genecards.org]
  • Taxonomy Nosology Nomenclature Epidemiology Study of frequency of disorders in populations Prevalence Proportion of people who have a diagnosis at any given time.[flashcardbook.com]
Sex distribution
Age distribution

Pathophysiology

  • […] synthesis antagonists ( 6-mercaptopurine, azathioprine ) Pyrimidine antagonists ( cytarabine ) Phenytoin Nitrous Oxide Erythroleukemia Inborn genetic mutations of the Methionine synthase gene Di Guglielmo's syndrome Congenital dyserythropoietic anemia Pathophysiology[en.wikipedia.org]
  • General aspects - Recognition by PE: Distinguish clinical findings associated Management of oncologic neurogenic disorders Patho of oncologic neurogenic disorders -Manifestations depend upon the tissues infiltrated and compressed by the neoplasm -Pathophysiologic[flashcardbook.com]
  • Pathophysiology Classic pernicious anemia is caused by the failure of gastric parietal cells to produce sufficient IF to permit the absorption of adequate quantities of dietary vitamin B-12.[obesityhelp.com]

Prevention

  • How to prevent Iron deficiency anemia It is important, especially for women to go for regular checkups to your doctor and also a hemoglobin check up.[lybrate.com]
  • Multidisciplinary follow-up is essential to ensure prevention, diagnosis and treatment of these complications.[em-consulte.com]
  • Prevention and treatment [ edit ] Folate is found in leafy green vegetables.[en.wikipedia.org]
  • Vitamin B 12 is still the subject of intense research and, in particular, its role in preventing these irreversible neurological lesions remains unclear. 2012 S.[karger.com]
  • Policy Statement: Folic Acid for the Prevention of Neural Tube Defects. Pediatrics. 1999;104(2):325–327. Reaffirmed May 2012. Pp. 325 -327. Available online at through . Accessed March 2015.[labtestsonline.it]

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