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Biology of the Neonate 1997Using fetal blood sampling, the diagnosis of triploidy can be strongly suspected on the basis of the peculiar hematological picture. Triploid fetuses present with... (Comparative Study)
Comparative Study
Using fetal blood sampling, the diagnosis of triploidy can be strongly suspected on the basis of the peculiar hematological picture. Triploid fetuses present with anemia, marked anisopoikilocytosis, and grossly increased mean corpuscular volume, associated with thrombocytopenia and significant platelet anisocytosis. These findings are of considerable immediate diagnostic value. They allow physicians to immediately counsel parents about the prognosis of the fetus. In case of fetal or neonatal distress, this information could orientate decisions about obstetrical and pediatric management while waiting for the definitive diagnosis.
Topics: Blood Cell Count; Chromosome Aberrations; Chromosome Disorders; Diagnosis, Differential; Female; Fetal Blood; Hemoglobins; Humans; Karyotyping; Male; Polyploidy; Prenatal Diagnosis
PubMed: 9395838
DOI: 10.1159/000244494 -
Leukemia & Lymphoma Mar 2003A woman with scleroderma and classic polyarteritis nodosa (PAN) who developed idiopathic myelofibrosis (IM) is reported. The patient presented with a one-year history of...
A woman with scleroderma and classic polyarteritis nodosa (PAN) who developed idiopathic myelofibrosis (IM) is reported. The patient presented with a one-year history of weakness, polyarthritis, Raynaud phenomenon, dry cough, and epigastralgia. The diagnosis of scleroderma with visceral involvement was made and treatment with prednisone subsequently started, with good clinical response. Six years later, fever, weight loss, livedo reticularis, and dysesthesias developed. Electromyographic studies were consistent with sensory neuropathy and a sural nerve biopsy yielded the diagnosis of PAN. The patient received cyclophosphamide plus prednisone with a favorable response, but 11 years later she was admitted because of weakness, constitutional symptoms, and abdominal pain due to spleen infarcts. Marked anemia, with aniso-poikilocytosis, tear-drop cells, immature myeloid precursors in the peripheral blood, and an increased serum LDH, was observed and the diagnosis of IM established by bone marrow biopsy. This case represents a new association between IM and an autoimmune disease and supports the hypothesis of an immune basis of IM in some patients.
Topics: Abdominal Pain; Autoimmune Diseases; Cyclophosphamide; Diagnostic Errors; Fatal Outcome; Female; Humans; Immunosuppressive Agents; Middle Aged; Polyarteritis Nodosa; Prednisone; Primary Myelofibrosis; Raynaud Disease; Scleroderma, Systemic; Splenic Infarction; Splenomegaly
PubMed: 12688329
DOI: 10.1080/1042819021000046849 -
Brain & Development Aug 2024CAD (MIM*114010) encodes a large multifunctional protein with the enzymatic activity of the first three enzymes initiating and controlling the de novo pyrimidine...
INTRODUCTION
CAD (MIM*114010) encodes a large multifunctional protein with the enzymatic activity of the first three enzymes initiating and controlling the de novo pyrimidine biosynthesis pathway. Biallelic pathogenic variants in CAD cause the autosomal recessive developmental and epileptic encephalopathy 50 (MIM #616457) or CAD deficiency presenting with epilepsy, status epilepticus (SE), neurological deterioration and anemia with anisopoikilocytosis. Mortality is around 9% of patients, mainly related to the no use of its specific treatment with uridine. Majority of reported cases have an early onset during infancy, with some few starting later in childhood.
CASE REPORT
Here we report a deceased female patient with CAD deficiency whose epilepsy started at 14 years. She showed a rapid neurologic deterioration including cognitive decline, electroencephalographic background slowing which later evolved to a fatal refractory SE and supra and infratentorial atrophy on neuroimaging. Anemia developed after SE onset.
METHODS AND RESULTS
her post-mortem whole exome sequencing identified biallelic missense variants in CAD (NM_004341.5): c.[2944G > A];[5366G > A] p.[(Asp982Asn)];[(Arg1789Gln)]. Our review of twenty-eight reported cases (2015-2023) revealed an epilepsy age onset from neonatal period to 7 years and the SE prevalence of 46 %.
DISCUSSION
With our case, we highlight the relevance of suspecting this treatable condition in older patients and in SE with no evident etiology.
Topics: Humans; Female; Epilepsy; Adolescent; Dihydroorotase; Mutation, Missense; Status Epilepticus; Cognitive Dysfunction; Age of Onset; Aspartate Carbamoyltransferase; Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing)
PubMed: 38641466
DOI: 10.1016/j.braindev.2024.04.001 -
Journal of Medical Case Reports Apr 2022Unstable hemoglobinopathies are rare inherited disorders of hemoglobin causing a reduction of hemoglobin molecule solubility. This results in an unstable hemoglobin...
BACKGROUND
Unstable hemoglobinopathies are rare inherited disorders of hemoglobin causing a reduction of hemoglobin molecule solubility. This results in an unstable hemoglobin tetramer/globin polypeptide, which precipitates within the red blood cell. Affected red blood cells have a reduced lifespan due to oxidative stress and cellular rigidity, and tend to be phagocytized by spleen macrophages more rapidly. Unstable hemoglobin is frequently under- or misdiagnosed, because its clinical presentation varies broadly. Therefore, testing for unstable hemoglobinopathies is indicated in cases of unexplained hemolytic anemia. However, this approach is not systematically followed in clinical practice.
CASE REPORT
A 25-year-old Caucasian man with a recent history of a presumed viral upper respiratory infection was referred to the hematology outpatient clinic because of hemolytic anemia. The patient had scleral icterus, moderate splenomegaly, and mild macrocytic anemia with high reticulocyte count. Unconjugated bilirubin and lactate dehydrogenase were elevated. Haptoglobin was undetectable. Direct antiglobulin test was negative. Blood smear examination revealed anisopoikilocytosis, polychromasia, bite cells, and basophilic stippling, but no Heinz bodies. High-performance liquid chromatography and capillary electrophoresis showed slightly increased hemoglobin A2, normal fetal hemoglobin, and a variant hemoglobin. Deoxyribonucleic Acid sequencing revealed the heterozygous mutation c430delC in the beta-globin gene hallmark of hemoglobin Montreal II and the heterozygous mutation c287C>T in the alpha-globin gene corresponding to hemoglobin G-Georgia, indicative of the not yet described combination of double-heterozygous hemoglobin Montreal II and hemoglobin G-Georgia variants. Hemoglobinopathy Montreal II was here not associated with β-thalassemia syndrome, and carriers did not show ineffective erythropoiesis. In addition to the case report, we provide information about the largest pedigree with hemoglobinopathy Montreal II identified to date.
CONCLUSION
We emphasize that a transitory acute condition may uncover an underlying inherited red blood cell disorder. In this regard, awareness should be raised among hematologists caring for adult patients that unstable hemoglobinopathies should be considered in the differential diagnosis of unexplained hemolytic anemias.
Topics: Adult; Anemia, Hemolytic; Hemoglobinopathies; Hemoglobins, Abnormal; Hemolysis; Humans; Male; Virus Diseases
PubMed: 35397565
DOI: 10.1186/s13256-022-03374-y -
Indian Pediatrics Mar 2009A 14 year male adolescent born of 2nd degree consanguineous marriage presented with asymptomatic proteinuria and severe anemia. He had leucopenia, anisopoikilocytosis,...
A 14 year male adolescent born of 2nd degree consanguineous marriage presented with asymptomatic proteinuria and severe anemia. He had leucopenia, anisopoikilocytosis, megaloblastic erythropoiesis, megakaryocytes with low serum B12 level. His younger sibling was similarly affected. This combination suggested Imerslund-Grasbeck syndrome. The hemoglobin levels improved with injection of vitamin B12 but proteinuria persisted. During follow-up, he developed ketoacidosis due to insulin dependent diabetes mellitus. This rare combination has not been reported in the Indian literature.
Topics: Adolescent; Anemia, Megaloblastic; Child; Diabetes Mellitus, Type 1; Failure to Thrive; Humans; Hyperpigmentation; Intestinal Absorption; Malabsorption Syndromes; Male; Mutation, Missense; Prevalence; Risk Factors; Syndrome; Vitamin B 12; Vitamin B 12 Deficiency
PubMed: 19346573
DOI: No ID Found -
The Southeast Asian Journal of Tropical... Sep 2012A 19-year old Thai male presented to the hospital with fever, acute hemolysis, pallor and jaundice without hepatosplenomegaly. On admission his hematocrit was 17.4% and...
A 19-year old Thai male presented to the hospital with fever, acute hemolysis, pallor and jaundice without hepatosplenomegaly. On admission his hematocrit was 17.4% and a blood smear showed moderate hypochromia with mild anisopoikilocytosis. Hemoglobin (Hb) electrophoresis revealed Hb A2ABart's Hb H with an abnormal band, which on PCR proved to be Hb Pyrgos (beta83, glycine --> aspartic acid). The patient inherited beta(Pyrgos) globin from his mother and alpha-thalassemia-1 from his father. He was diagnosed as having Hb H (alpha-thalassemia-1/alpha-thalssemia-2) heterozygous Hb Pyrgos. He was treated with a transfusion of packed red blood cells. During follow-up his hematocrits ranged from 31 to 34%. The Hb Pyrgos did not add any deleterious effect to his Hb H disease.
Topics: Adult; Diagnosis, Differential; Hematocrit; Hemoglobins; Hemoglobins, Abnormal; Heterozygote; Humans; Male; Thailand; alpha-Thalassemia
PubMed: 23431835
DOI: No ID Found -
Haematologia 2000A 25-year-old male with anemia, jaundice and liver dysfunction was admitted to our institution. Anisopoikilocytosis with tear-drop forms, polychromasia, basophilic...
A 25-year-old male with anemia, jaundice and liver dysfunction was admitted to our institution. Anisopoikilocytosis with tear-drop forms, polychromasia, basophilic stippling in peripheral blood smear, erythroid hyperplasia with megaloblastoid changes, binucleated cells and intranuclear bridging in bone marrow aspirate and spongy, unevenly condensed nuclear chromatin in electron microscopy studies indicated that he had congenital dyserythropoietic anemia (CDA) type I. As a rare finding in CDA, ringed sideroblasts were noted. It is proposed that this patient is an example for the designation 'variant congenital dyserythropoietic anemia with ringed sideroblasts'.
Topics: Adult; Anemia, Dyserythropoietic, Congenital; Bone Marrow; Erythrocytes, Abnormal; Hemochromatosis; Humans; Iron; Liver; Male; Microscopy, Electron
PubMed: 10841325
DOI: 10.1163/15685590051129887 -
Immunity Feb 2003Basal complement activity presents a potential danger for "self" cells that are tightly protected by complement regulators including CD59. Mice express two Cd59 genes...
Basal complement activity presents a potential danger for "self" cells that are tightly protected by complement regulators including CD59. Mice express two Cd59 genes (mCd59a and mCd59b); mCd59b has approximately a 6-fold higher specific activity than mCd59a. Consistently, mCd59b knockout mice present a strong phenotype characterized by hemolytic anemia with increased reticulocytes, anisopoikilocytosis, echinocytosis, schistocytosis, free hemoglobin in plasma, hemoglobinuria with hemosiderinuria, and platelet activation. Remarkably, mCd59b(-/-) males express a progressive loss of fertility associated with immobile dysmorphic and fewer sperm cells after 5 months of age. This work indicates that mCd59b is a key complement regulator in mice and that CD59 is critical in protecting self cells; it also provides a novel model to study complement regulation in human diseases.
Topics: Anemia, Hemolytic; Animals; CD59 Antigens; Humans; Infertility, Male; Male; Mice; Mice, Inbred C57BL; Mice, Knockout; Phenotype; Platelet Activation; Sperm Motility; Spermatozoa
PubMed: 12594949
DOI: 10.1016/s1074-7613(03)00022-0 -
Cureus Nov 2018Anemia is a frequently encountered problem in the healthcare system. Common causes of anemia include blood loss, followed by impaired red blood cell production and red...
Anemia is a frequently encountered problem in the healthcare system. Common causes of anemia include blood loss, followed by impaired red blood cell production and red blood cell destruction. This case demonstrates the need for cognizance of the less frequent causes of anemia. A 27-year-old male with a history of traumatic brain injury and quadriplegia with chronic respiratory failure on home ventilator support presented to the emergency department with dyspnea and no bowel movements for three days. The patient received nutrition via percutaneous endoscopic gastostromy (PEG) tube. He was hypotensive with a mean arterial pressure (MAP) of 54 mm/Hg. There was no evidence of acute or ongoing blood loss. Initial lab data revealed hyperkalemia (K+ 6.1), severe anemia (Hb 1.5 g/dL), leukopenia (2.53 K/uL), neutropenia (ANC 700), and normal platelets. Peripheral smear revealed leukopenia with absolute neutropenia, marked anemia with anisopoikilocytosis with rare dacrocytes but no evidence of schistocytes. He responded to transfusion with improvement in hemoglobin from 1.5 to 9.1 within 24 hours. There was no evidence of hemolysis or vitamin deficiency. Ferritin and triglyceride levels were ordered to rule out hemophagocytic lymphohistiocytosis (HLH). Ferritin was elevated at 6506 ng/mL and triglycerides were 123 mg/dL. Soluble IL-2 receptor level was sent and found to be significantly elevated; however, this was felt to be more likely secondary to infection and inflammation, as the patient had no other clinical features of HLH, apart from cytopenias. Zinc supplementation was part of his wound care regimen. Copper levels were <10 ug/dL (normal: 70-140). Zinc supplements were stopped, and the patient was started on copper supplementation. At his three month follow-up clinic appointment, his anemia and leukopenia had resolved. Micronutrient deficiency is a potential cause of anemia, especially in a risk population and must be considered, as it is often easily correctible.
PubMed: 30723637
DOI: 10.7759/cureus.3636 -
Internal Medicine (Tokyo, Japan) Nov 1993Three subjects in a family with microcytic and hypochromic anemia were studied; red blood cell morphology indicated aniso-poikilocytosis and hypochromasia. Target and...
Three subjects in a family with microcytic and hypochromic anemia were studied; red blood cell morphology indicated aniso-poikilocytosis and hypochromasia. Target and tear-drop cells were also noted. In all three cases evaluated, there was an increase in HbA2 levels and a decline in the beta/alpha synthesis ratio. Direct cloning and DNA sequencing identified a point mutation (G-->T) at position 1 of intervening sequence I. The resulting reduction of beta-globin chain synthesis is considered to give rise to beta 0-thalassemia phenotype. This point mutation is to our knowledge, the first case in Japan.
Topics: Base Sequence; DNA; Female; Globins; Heterozygote; Humans; Introns; Japan; Male; Middle Aged; Molecular Sequence Data; Pedigree; Point Mutation; RNA Splicing; beta-Thalassemia
PubMed: 8012089
DOI: 10.2169/internalmedicine.32.865