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Ceska Gynekol 2020 ;85(1):18-28

Objective: The aim of this study is to draw attention to a nosological unit called thrombotic microangiopathy (TMA). This syndrome represents a serious pathological condition characterized by microangiopathic haemolytic anemia (MAHA), thrombocytopenia and various organ dysfunction. Patients are most often presented with symptoms of the HELLP syndrome but if the clinical picture is not restituted within 48-72 hours after delivery, other TMAs should be considered. Read More

Sisli Etfal Hastan Tip Bul 2020 25;54(1):113-116. Epub 2020 Mar 25.

Department of Pediatrics, Division of Neonatology, Sisli Hamidiye Etfal Training and Research Hospital, Istanbul, Turkey.

Congenital syphilis is a severe disease that arises from the vertical transmission of Treponema pallidum. Clinical findings are related to the pregnancy stage, fetal gestational week, maternal treatment and fetal immunologic response. Prematurity, low birth weight, nonimmune hydrops fetalis, necrotizing enterecolitis, hepatomegaly, skin eruptions, thrombocytopenia, hemolytic anemia and fever can be detected in the symptomatic newborn. Read More

Proc (Bayl Univ Med Cent) 2020 Apr 23;33(2):270-272. Epub 2020 Jan 23.

Department of Pathology, Baylor University Medical CenterDallasTexas.

Thrombotic thrombocytopenic purpura may be seen with several autoimmune disorders such as immune thrombocytopenia purpura, immune hemolytic anemia, and systemic lupus erythematosus, but it is rarely associated with Graves' disease. We report a patient with thrombotic thrombocytopenic purpura associated with Graves' disease. Read More

Am J Case Rep 2020 Apr 14;21:e921299. Epub 2020 Apr 14.

Department of Rheumatology, Henry Ford Hospital/Wayne State University, Detroit, MI, USA.

BACKGROUND Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by autoantibody production leading to inflammation in multiple organs; it commonly affects young women in their child-bearing years. Clinical manifestations are diverse and range from mild arthritis to diffuse alveolar hemorrhage (DAH). DAH is a rare and devastating complication of SLE that carries a mortality rate of up to 50%, despite aggressive therapy. Read More

Autoimmun Rev 2020 Apr 27;19(4):102489. Epub 2020 Feb 27.

Univ. Lille, EA 2694: Epidémiologie et qualité des soins, F-59000 Lille, France; Univ Lille, CHU Lille, Pôle Femme Mère Nouveau-né, F-59000 Lille, France.

Background: Pregnancies in women with systemic lupus erythematosus (SLE) are at risk of unfavorable perinatal outcomes, especially when antiphospholipid antibody syndrome (APS) is present. Their prognosis is less clear in other situations.

Objectives: To assess pregnancy prognosis in women with SLE but not APS compared with a control series and determine the poor prognostic factors, if any, detectable before 15 weeks' gestation. Read More

Transfus Med Hemother 2020 Feb 20;47(1):14-22. Epub 2020 Jan 20.

Institute for Clinical Immunology and Transfusion Medicine, Justus-Liebig University, Giessen, Germany.

Hemolytic disease of the fetus and newborn and fetal and neonatal alloimmune thrombocytopenia are caused by maternal antibodies against fetal alloantigens on red blood cells or platelets that are inherited from the father. After transplacental transport to the fetal circulation, antibodies of the IgG class may cause severe fetal anemia or bleeding complications. The indication for noninvasive fetal blood group genotyping is given if a clinically relevant antibody is detected in a pregnant woman and if the father is heterozygous (or unknown) for the implicated blood group allele. Read More

Mult Scler Relat Disord 2020 May 30;40:101961. Epub 2020 Jan 30.

The Perron Institute for Neurological and Translational Sciences, QE II Medical Centre, Perth, Australia; Faculty of Medicine, University of Western Australia, Perth, Australia; Institute of Immunology and Infectious Diseases, Murdoch University, Perth, Australia. Electronic address:

Background: Natalizumab, a monoclonal antibody directed against alpha-4-integrin, is an efficacious treatment used in Multiple Sclerosis (MS). Use in early pregnancy is safe but information in the third trimester is limited. Ceasing natalizumab is often associated with an increased risk in MS relapse and in some instances natalizumab continuation during pregnancy may be required. Read More

J Pak Med Assoc 2019 Jul;69(7):1047-1048

Multan Institute of Nuclear Medicine and Radiotherapy (MINAR) Cancer Hospital, Multan, Pakistan.

Evans syndrome is a rare autoimmune disease in which an individual's antibodies attacks the body's own red blood cells and platelets.1 There is a coexistence of Immune thrombocytopenia (ITP) with Autoimmune haemolytic anaemia (AIHA) and both of these events may occur simultaneously or one follows the other. 2 Association of Evans syndrome with pregnancy is very rare, and only a few cases have been published in medical literature. Read More

Clin Chim Acta 2020 Apr 13;503:61-69. Epub 2020 Jan 13.

Renal Division, Department of Medicine, Peking University First Hospital, Peking University Institute of Nephrology, Key Laboratory of Renal Disease, Ministry of Health of China, Key Laboratory of Chronic Kidney Disease Prevention and Treatment, Ministry of Education of China, Beijing 100034, PR China; Peking-Tsinghua Center for Life Sciences, Peking University, Beijing 100034, PR China. Electronic address:

Pregnancy associated atypical hemolytic uremic syndrome (p-aHUS) is a disease with a triad of hemolytic anemia, thrombocytopenia and acute renal failure, which might be attributed to the uncontrolled complement activation. Herein, we sequenced a postpartum-aHUS patient and found the two missense variants of CD46, a novel mutation (c.403G > C, p. Read More

Korean J Intern Med 2020 Jan 2;35(1):25-40. Epub 2020 Jan 2.

Department of Internal Medicine, CHA University School of Medicine, Seongnam, Korea.

Thrombotic microangiopathy (TMA) is defined by specific clinical characteristics, including microangiopathic hemolytic anemia, thrombocytopenia, and pathologic evidence of endothelial cell damage, as well as the resulting ischemic end-organ injuries. A variety of clinical scenarios have features of TMA, including infection, pregnancy, malignancy, autoimmune disease, and medications. These overlapping manifestations hamper differential diagnosis of the underlying pathogenesis, despite recent advances in understanding the mechanisms of several types of TMA syndrome. Read More

Lab Med 2020 Jan 11. Epub 2020 Jan 11.

The Platelet & Neutrophil Immunology Laboratory, Blood Center of Wisconsin (part of Versiti), Milwaukee, WI.

Platelet-transfusion refractoriness (PTR) is common in patients with hematological malignancies. The etiology of immune PTR is typically human leukocyte antigen (HLA) antibodies (Abs) from pregnancy or previous transfusion. Herein, we report PTR in the setting of induction chemotherapy for acute myelogenous leukemia (AML) from Abs against CD36/glycoprotein (GP)IV. Read More

PLoS One 2020 10;15(1):e0227445. Epub 2020 Jan 10.

Nephrology Division, Federal University of São Paulo, São Paulo, Brazil.

Introduction: Thrombotic microangiopathy (TMA) in post-transplant setting has heterogeneous clinical manifestations.

Methods: We retrospectively studied data of 89 patients with post-transplant TMA, which was characterized by thrombi in at least one glomerulus and/or arteriole. Systemic TMA was defined by thrombocytopenia and microangiopathic anemia and early onset TMA, when occurred less than 90 days post transplant. Read More

Best Pract Res Clin Rheumatol 2019 Dec 19:101463. Epub 2019 Dec 19.

Associate Professor of Clinical Medicine, Weill Cornell Medicine, Hospital for Special Surgery, 535 East 70th Street, New York, NY, 10021, USA. Electronic address:

Antiphospholipid syndrome is an autoimmune systemic disorder characterized by arterial, venous, or small vessel thrombosis and/or recurrent early pregnancy loss, fetal loss, or pregnancy morbidity in the setting of documented persistent antiphospholipid antibodies that include the lupus anticoagulant, or moderate-high titer anticardiolipin, or anti-β2Glycoprotein I antibodies. Associated clinical manifestations include livedo reticularis, cutaneous ulcerations, thrombocytopenia, hemolytic anemia, valvular heart disease, and nephropathy. The degree of risk associated with antiphospholipid antibody depends on the characteristics of the antiphospholipid antibody profile and on the presence of additional thrombotic risk factors. Read More

Am J Case Rep 2019 Dec 17;20:1888-1891. Epub 2019 Dec 17.

Department of Obstetrics and Gynecology, College of Medicine, University of Arkansas for Medical Sciences, Little Rock, AR, USA.

BACKGROUND Cancer in pregnancy is extremely rare, and gastric cancers are rarer still. Diagnosis is difficult in pregnancy due to overlapping symptoms with pregnancy such as nausea, pain, anemia, and fatigue. CASE REPORT A 26-year-old G1 woman at 32 weeks gestation with a past medical history of systemic lupus erythematosus presented with new-onset chest pain and shortness of breath. Read More

Obstet Gynecol 2020 01;135(1):46-58

Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, the University of Texas Health Science Center at Houston, Houston, Texas; and the Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Cedars-Sinai Medical Center, Los Angeles, California.

Objective: To evaluate disease presentation, diagnosis, treatment, and clinical outcomes in pregnancy-associated atypical hemolytic uremic syndrome (aHUS).

Data Sources: We searched PubMed, MEDLINE, Cochrane Library, ClinicalTrials.gov, Web of Science, EMBASE and Google Scholar, from inception until March 2018. Read More

Am J Obstet Gynecol 2019 12;221(6):B16-B18

Obstet Gynecol 2019 12;134(6):1215-1218

Departments of Obstetrics & Gynecology and Nephrology, Monash Health, Victoria, Australia.

Background: Untreated microangiopathic hemolytic anemia in pregnancy is associated with adverse maternal and perinatal outcomes. Accurate diagnosis is challenging owing to nonspecific clinical features and pathologic findings. Timely initiation of appropriate management is essential to optimize maternal and perinatal outcomes. Read More

Am J Case Rep 2019 Oct 4;20:1460-1465. Epub 2019 Oct 4.

Surgical, Medical and Dental Department of Morphological Sciences, Section of Nephrology, University of Modena and Reggio Emilia, Modena, Italy.

BACKGROUND Atypical hemolytic uremic syndrome (aHUS) is a genetic disorder with uncontrolled complement activation leading to systemic thrombotic microangiopathy; kidneys are almost invariably involved. Eculizumab has dramatically improved the prognosis of aHUS and affected women in the childbearing age are more likely to consider pregnancy, even if this could represent a risk for disease reactivation. Pregnancies in women with aHUS during Eculizumab treatment have been reported, with no cases of aHUS relapse. Read More

Biomedica 2019 06 15;39(2):354-369. Epub 2019 Jun 15.

Grupo de Malaria, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia.

Introduction: Malaria during pregnancy has a negative impact on maternal-neonatal health, with a high risk of clinic complications and mortality. High endemic areas are specially characterized by maternal anaemia and low birth weight. The clinical spectrum is little known in low endemic areas. Read More

BMJ Case Rep 2019 Sep 12;12(9). Epub 2019 Sep 12.

Department of Medicine, College of Medicine, University of Florida, Gainesville, Florida, USA.

Atypical haemolytic uraemic syndrome (aHUS) is a disease of complement dysregulation and can be fatal if not treated in a timely manner. Although normally associated with triggers such as infection or pregnancy, this case demonstrates acute pancreatitis as the triggering event. The patient's initial presentation of thrombocytopaenia and acute renal failure was first attributed to a systemic inflammatory response syndrome due to pancreatitis, but with detailed history and further laboratory investigation, we were able to show that patient was having symptoms associated with aHUS. Read More

BMC Nephrol 2019 08 7;20(1):307. Epub 2019 Aug 7.

Department of Nephrology, Odense University Hospital, 5000, Odense C, Denmark.

Background: Atypical hemolytic uremic syndrome (aHUS) is a disorder of the microvasculature with hemolytic anemia, thrombocytopenia and acute kidney injury. Nowadays, aHUS is successfully treated with eculizumab, a humanized, chimeric IgG2/4 kappa antibody, which binds human complement C5 and blocks generation of C5a and membrane-attack-complex.

Case Presentation: A 25-year-old woman with end stage renal disease due to relapsing atypical hemolytic uremic syndrome had a relapse of the disease during pregnancy. Read More

Hum Antibodies 2020 ;28(1):11-19

Medical Laboratory Science Council of Nigeria, Nigeria.

Background: Pregnancy induces a number of physiologic changes either directly or indirectly that affect the haematologic parameters. The most frequent haematologic complication associated with pregnancy is anaemia and thrombocytopenia.

Objectives: The aim of this case-control study was to investigate the prevalence of anaemia and thrombocytopenia among one hundred and twenty consecutively-recruited pregnant subjects and sixty age-matched non-pregnant controls. Read More

Ugeskr Laeger 2019 Jul;181(27)

In this case report, a 26-year-old pregnant woman presented with headache, visual disturbances, mega-loblastic anaemia, thrombocytopenia and proteinuria in her third trimester. These symptoms were initially misinterpreted as HELLP-syndrome, but due to normal blood pressure and liver function the patient was diagnosed with severe folate deficiency despite her daily supplements of folate to avoid neural tube defects and deficiency. The reason was onset of coeliac disease during pregnancy. Read More

BMJ Case Rep 2019 Jun 21;12(6). Epub 2019 Jun 21.

Hematology Oncology - BMT Department, The Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

A rare case of acquired amegakaryocytic thrombocytopenia (AATP) in a 35-year-old woman who presented with anaemia and thrombocytopenia at 22 weeks gestation. The first diagnostic impression was of an evolving aplastic anaemia; however, the patient was simultaneously diagnosed with severe vitamin B deficiency in the setting of vegetarianism. Once the cyanocobalamin deficiency was corrected, a repeat bone marrow biopsy revealed an isolated depletion of megakaryocytes, which suggested the diagnosis of AATP. Read More

Case Rep Hematol 2019 6;2019:4539675. Epub 2019 May 6.

Hematology Department, Tokoin Teaching Hospital, University of Lome, Lome, Togo.

Objective: To report the first case in Togo of Biermer's disease associated with intrauterine growth retardation (IUGR) in a 39-year-old pregnant woman.

Observation: The patient with phenotype AA, born on 20/02/1978, GP (a spontaneous abortion at 3 months), was referred to hematology on 17 March 2017 for anemia at 26 weeks of amenorrhea (WA). She had received martial treatment with ferrous fumarate 66 milligrams daily. Read More

J Perinatol 2019 07 9;39(7):920-926. Epub 2019 May 9.

Department of Obstetrics and Gynecology, Washington University in St. Louis School of Medicine, St. Louis, MO, USA.

Objective: To estimate the prevalence and characteristics of fetal thrombocytopenia at the time of percutaneous umbilical cord sampling (PUBS) in pregnancies complicated by alloimmunization and to conduct a systematic review on fetal thrombocytopenia in these pregnancies.

Study Design: Retrospective cohort study of all patients undergoing PUBS at our institution from 2000-2017. Clinical data, including fetal platelet counts, were abstracted from the medical record and analyzed with routine statistical procedures. Read More

Rinsho Ketsueki 2019 ;60(3):209-212

Department of Hematology, Gifu University Graduate School of Medicine.

A 30-year-old woman who was 14 weeks pregnant was admitted to our hospital due to purpura, nasal bleeding, and abdominal pain. She was diagnosed with acquired thrombotic thrombocytopenic purpura (TTP) based on the presence of hemolytic anemia, thrombocytopenia, decreased ADAMTS 13 activity (<0.01 IU/ml), and high ADAMTS 13 inhibitor levels (4. Read More

J Pediatr Genet 2019 Jun 26;8(2):81-85. Epub 2018 Oct 26.

Department of Biochemical Genetics, Sandor Lifesciences Pvt Ltd, Hyderabad, Telangana, India.

This is the first reported case of prosaposin ( ) mutation from India manifesting as an acute neuronal Gaucher disease-like condition. A 2-month-old male baby presented with encephalopathy, resistant tonic-clonic seizures, moderate hepatosplenomegaly, hypotonia, and cherry red spot in the retinae. The child had anemia, thrombocytopenia, elevated chitotriosidase, and normal activity of acid sphingomyelinase and low normal activity of β-glucosidase 1 (β-glucocerebrosidase 1, GBA). Read More

Hum Antibodies 2019 ;27(4):247-255

Department of Medical Laboratory Science, Igbinedion University, Okada, Nigeria.

Pregnancy is the fertilization and development of one or more offspring, known as an embryo or foetus in a woman's uterus. Pregnancy is a critical stage of development during which maternal nutrition can strongly influence obstetric and neonatal outcomes. The aim of this study was to determine the effect of pregnancy on the full blood count parameters of pregnant women of African descent residing in Sokoto, North Western Nigeria. Read More

Natl Med J India 2018 May-Jun;31(3):146-148

Department of Obstetrics and Gynaecology, All India Institute of Medical Sciences, New Delhi, India.

Background: Pregnancy with massive splenomegaly is a rare entity and is associated with increased risk to both mother and foetus. There is paucity of studies in the literature to guide clinicians for the management of this condition.

Methods: We reviewed the course of pregnancy, maternal and foetal outcomes of 5 pregnant women with massive splenomegaly who were managed in our unit during 2015-16. Read More

Case Rep Obstet Gynecol 2019 25;2019:4325647. Epub 2019 Mar 25.

Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA.

Severe vitamin B12 deficiency may present with hematologic abnormalities that mimic thrombotic microangiopathy disorders such as hemolysis, elevated liver enzymes, and low platelet count (HELLP) syndrome. We report a patient diagnosed with severe vitamin B12 deficiency, following termination of pregnancy for suspected preeclampsia and HELLP syndrome at 21 weeks' gestation. When hemolysis and thrombocytopenia persisted after delivery, testing was performed to rule out other etiologies of thrombotic microangiopathy, including atypical hemolytic uremic syndrome, thrombotic thrombocytopenic purpura, and vitamin B12 deficiency. Read More

G Ital Nefrol 2019 Apr;36(2)

Centro per la Cura e lo Studio della Sindrome Emolitico-Uremica. Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano.

Thrombotic microangiopathies (TMA) are a group of diseases that can complicate pregnancy and threaten the lives of both the mother and the fetus. Several conditions can lead to TMA, including thrombotic thrombocytopenic purpura (TTP), HELLP syndrome and hemolytic uremic syndrome (HUS). We describe the case of a 39-year-old woman who presented a HELLP syndrome in the immediate postpartum period. Read More

J Stroke Cerebrovasc Dis 2019 Jun 28;28(6):1537-1539. Epub 2019 Mar 28.

Department of Neurology, Bicêtre Hospital, AP-HP, University Paris Sud Saclay, Le Kremlin-Bicêtre, France.

Thrombotic thrombocytopenic purpura (TTP) is a thrombotic microangiopathy related to a severe deficiency of ADAMTS13 (a disintegrin and metalloprotease with thrombospondin type 1 repeats, member 13). In this article, we describe the first case of a young male adult suffering from a hereditary TTP revealed by recurrent strokes, relapsing despite antiplatelet and anticoagulant therapy. Because of the persistent moderate thrombocytopenia, plasmatic ADAMTS13 activity was investigated and was found lower than 5% in the absence of anti-ADAMTS13 IgG. Read More

Kidney Int 2019 04;95(4):996

Department of Nephrology, Radboud University Medical Center, Nijmegen, The Netherlands.

Kidney Int Rep 2019 Mar 28;4(3):420-424. Epub 2018 Nov 28.

The George Institute for Global Health, New Delhi, India.

Introduction: Pregnancy-related acute kidney injury is the most common cause of renal cortical necrosis (RCN). Atypical hemolytic uremic syndrome (aHUS) as a cause of RCN in pregnant/postpartum is underevaluated. In the current article, we describe a series of cases of pregnancy-related RCN. Read More

Gynecol Oncol 2019 05 8;153(2):277-285. Epub 2019 Mar 8.

New England Trophoblastic Disease Center, Division of Gynecologic Oncology, Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.

Objective: To evaluate the impact of periodic shortage of actinomycin-d (Act-d) in the treatment of Brazilian patients with low-risk gestational trophoblastic neoplasia (GTN) after methotrexate and folinic acid rescue (MTX/FA) resistance, treated alternately with carboplatin or etoposide as a second-line regimen.

Methods: Retrospective cohort that included patients with failure of first-line MTX/FA regimen for low-risk GTN treated at Rio de Janeiro Federal University, Universidade Federal de São Paulo and Irmandade da Santa Casa de Misericórdia de Porto Alegre, from January/2010- December/2017.

Results: From 356 patients with low-risk GTN treated with MTX/FA, 75 (21. Read More

BMJ Case Rep 2019 Feb 18;12(2). Epub 2019 Feb 18.

Neonatology Unit, Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

Intrauterine transfusion is one of the mainstays of treatment in isoimmunised pregnancies guided by the changes in middle cerebral artery Doppler of the fetus. The common postnatal complications associated with Rh isoimmunisation are high unconjugated bilirubin requiring blood exchange transfusions, cholestasis due to bile inspissation, thrombocytopenia and anaemia. Hyperferritinaemia is an uncommon adverse effect observed in Rh isoimmunised pregnancies. Read More

Br J Haematol 2019 04 15;185(2):297-310. Epub 2019 Feb 15.

Hannover Medical School, Hannover, Germany.

Eculizumab is the first and only medication approved for paroxysmal nocturnal haemoglobinuria (PNH) and atypical haemolytic uraemic syndrome (aHUS) treatment. However, eculizumab safety based on long-term pharmacovigilance is unknown. This analysis summarises safety data collected from spontaneous and solicited sources from 16 March 2007 through 1 October 2016. Read More

Sante Publique 2018 September October;30(5):671-677

Objective: In the obstetric medicine movement and in response to requests for appointments in internal medicine by obstetricians and midwives, we created an internal medicine consultation within the maternity ward of our General Hospital, and provide feedback after 1 year.

Methods: This retrospective descriptive study took place at the Robert Ballanger Intercommunal Hospital Center in Aulnay-sous-Bois in Seine-Saint-Denis (France) between 3rd March 2016 and 9th March 2017, the first year of the internal medicine consultation, one afternoon every 15 days, in the maternity level 2b.

Results: Out of 121 appointments, 93 consultations were conducted for 63 patients. Read More

CEN Case Rep 2019 05 4;8(2):139-143. Epub 2019 Feb 4.

Department of Medicine, Dr.Soliman Fakeeh Hospital, Jeddah, Saudi Arabia.

Pregnancy-associated atypical hemolytic uremic syndrome (P-aHUS) is a rare condition. It is characterized by very high maternal mortality and morbidity. Most cases of P-aHUS (79%) manifest in the postpartum period; this is probably due to the complement's involvement in aHUS pathogenesis. Read More

Ter Arkh 2018 Jun;90(6):28-34

I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia (Sechenov University), Moscow, Russia.

Aim: Analysis of clinical manifestations, course and outcomes of obstetric aHUS.

Materials And Methods: 45 patients with aHUS development during pregnancy or immediately after childbirth were observed between 2011 and 2017, age from 16 to 42 years.

Results: All patients had AKI (serum creatinine 521,5±388,0 µmol/l, oliguria or anuria that required initiation of hemodialysis). Read More

Indian J Med Res 2018 Oct;148(4):373-384

Guru Nanak Eye Centre, Maulana Azad Medical College, New Delhi, India.

Human parvovirus B19 (B19V) causes myriads of clinical diseases; however, owing to lack of awareness and undetermined clinical impact, it has failed to become a virus pathogen of global concern. Cryptically, B19V causes significant morbidity and mortality. Half of the world population and 60 per cent of Indians are known to be serologically naive and are at risk of acquiring B19V infections. Read More

BMJ Case Rep 2019 Jan 17;12(1). Epub 2019 Jan 17.

Medicine (Nephrology), Jacobi Medical Center / Albert Einstein College of Medicine, New York City, New York, USA.

Pregnancy-induced atypical haemolytic uremic syndrome (P-aHUS) is a rare condition characterised by microangiopathic haemolytic anaemia, thrombocytopenia and renal failure. It accounts for approximately 7% of total HUS cases. Here, we present a case of recurrent P-aHUS in a 25-year-old Hispanic woman. Read More

Horm Mol Biol Clin Investig 2019 Jan 17;38(3). Epub 2019 Jan 17.

Department of Obstetrics and Gynecology, Sibu Hospital, Ministry of Health Malaysia, 96000 Sibu, Sarawak, Malaysia.

Severe placental abruption is associated with high maternal and perinatal morbidity and mortality. Prompt delivery is usually mandatory in this situation. We report a case of a 33-year-old woman, gravida 5, para 3 + 1, at 26 weeks + 3 days' gestation who had severe placental abruption involving 40% of the placental surface complicated with maternal moderate anaemia and thrombocytopenia. Read More

Acta Med Indones 2018 Oct;50(4):343-345

Department of Internal Medicine, Faculty of Medicine, Padjadjaran University, Bandung, Indonesia.

A 38-year-old woman presented with general weakness and vaginal bleeding. One month prior, she had been diagnosed with Evans syndrome (haemolytic anemia with positive Coombs test and thrombocytopenia) and was given oral steroid as maintenance therapy. Her serology examination was negative for hepatitis B, hepatitis C, and human immunodeficiency virus (HIV). Read More

Mol Genet Metab Rep 2019 Mar 4;18:19-21. Epub 2019 Jan 4.

Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.

Gaucher disease (GD) is one of the commonest lysosomal storage diseases that is inherited in an autosomal recessive manner and affects 1 in 50,000 to 100,000 people in the general population. The frequency is much higher (1 in 500 to 1000) in people of Ashkenazi Jewish heritage due to a founder effect. GD is caused by decreased or absent activity of β-glucosidase with subsequent accumulation of the substrate glucosylceramide in macrophages due to genetic alterations in the gene. Read More

Cureus 2018 Sep 25;10(9):e3358. Epub 2018 Sep 25.

Internal Medicine, Brookdale University Hospital, New York, USA.

Atypical hemolytic uremic syndrome (aHUS) is a kidney disorder that is frequently unrecognized during its progression, and misdiagnosed with more common etiologies of microangiopathic hemolytic anemia (MAHA): hemolytic uremic syndrome, disseminated intravascular coagulation, and thrombotic thrombocytopenic purpura (TTP). During pregnancy, the diagnosis of aHUS is furthermore challenging. The clinical presentation of aHUS may mimic pre-eclampsia as it occurred to the patient described in the case report. Read More

Transfus Apher Sci 2018 Dec 16;57(6):790-792. Epub 2018 Nov 16.

Department of Medicine and Bioregulatory Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan; Department of Molecular Endocrinology and Metabolism, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.

Upshaw-Schulman syndrome (USS) is an inherited type of thrombotic thrombocytopenic purpura (TTP) that is extremely rare, but often diagnosed during pregnancy. Reversible cerebral vasoconstriction syndrome (RCVS) is the transient stenosis of several cerebral arteries that is frequently diagnosed post-partum. We describe a 28-year-old woman with USS complicated by RCVS after delivery that was treated by plasma exchange with a good outcome. Read More

Eur J Paediatr Neurol 2018 Nov 11;22(6):989-1005. Epub 2018 Sep 11.

Departments of Child Health, Obstetrics and Gynaecology and Radiology, University Hospital Southampton, United Kingdom; Clinical and Experimental Sciences, University of Southampton, United Kingdom.

Fetal stroke is an important cause of cerebral palsy but is difficult to diagnose unless imaging is undertaken in pregnancies at risk because of known maternal or fetal disorders. Fetal ultrasound or magnetic resonance imaging may show haemorrhage or ischaemic lesions including multicystic encephalomalacia and focal porencephaly. Serial imaging has shown the development of malformations including schizencephaly and polymicrogyra after ischaemic and haemorrhagic stroke. Read More