Importance of screening the peripheral smear

A 5-year-old boy presented with history of failure to thrive from infancy. There was a history of one sibling death due to similar problems and history of severe abortions in the mother. Routine examination of peripheral smear revealed more than 50% acanthocytes. Based on this tests were streamlined to doing lipid profile and Lipo protein electrophoresis which revealed hypolipidemia and absent beta hypo protein band. Jejunal mucosal biopsy confirmed the diagnosis of A Beta Lipo proteinemia which revealed lipid laden enterocytes. This case illustrates the importance of simple tests like peripheral smear examination in streamlining further tests in the diagnosis of major diseases.     

A practical approach to the evaluation of the anemic child

Anemia is a sign of disease and not a final diagnosis. The clinician's goal is to define the underlying cause. The anemia may be due to decreased production or Increased destruction or loss of red blood cells. Integration of the results of the initial CBC. particularly the RBC indices, the peripheral blood smear, the history and the physical examination can help organize the focus of further evaluations and, ultimately, minimize the number of tests needed to make a firm diagnosis.     

Ocular extramedullary myeloid cell tumour in children: an Indian study.

Thirty-two children with extramedullary myeloid cell tumour (EMT) who constituted 41 per cent of children with acute myeloid leukaemia (AML) were studied to ascertain their laboratory characteristics and potential problems in diagnosis. The diagnosis, established by peripheral blood smear and/or bone marrow examination, was AML (n = 29) and refractory anaemia with excess blasts in transformation (RAEB-t; n = 3). The six referred patients in whom the diagnosis had been missed, and two cases wrongly reported as histiocytosis on aspiration cytology, were those in whom a peripheral blood smear had not been examined. It is concluded that diagnostic work-up of proptosis must include a full haemogram, meticulous peripheral blood smear examination, repeated if necessary, and bone marrow examination where relevant. RAEB-t cases with extramedullary myeloid cell tumour should be classified as acute myeloid leukaemia.     

A rare cause of anemia and thrombocytopenia in a newborn: congenital malaria

A newborn with fever and jaundice was referred to our hospital with anemia and thrombocytopenia of unknown origin. The patient's mother suffered from malaria infection during the third trimester of her pregnancy, but she did not accept medical therapy. On physical examination the newborn showed mild splenomegaly and jaundice. Laboratory tests revealed marked anemia with a hemoglobin value of 7.7 g/L and thrombocytopenia with platelet numbers of 17,000/mm3. Plasmodium vivax was detected in blood smear. Oral therapy with chloroquine and primaquine was started. This patient is the second case of congenital malaria reported from Turkey, and shows that the diagnosis of congenital malaria should be considered in infants with suspected congenital infection who are born to mothers with a history of malarial disease. We emphasize the importance of adequate antenatal medical therapy during pregnancy.     

Clinical practice

Mucocutaneous bleeding is common in childhood and may be the result of primary hemostatic disorders such as vascular abnormalities, von Willebrand disease, thrombocytopenia, and platelet dysfunction. A detailed bleeding history and physical examination are essential to distinguish between normal and abnormal bleeding and to decide whether it is necessary to perform further laboratory evaluation. Initial laboratory tests include complete blood count, peripheral blood smear, mean platelet volume, von Willebrand factor (VWF) antigen assay, VWF ristocetin cofactor activity, and factor VIII activity. Once thrombocytopenia and von Willebrand disease have been excluded, platelet function should be tested by platelet aggregation. Additional specific diagnostic tests, such as platelet secretion tests and flow cytometry for the detection of platelet surface glycoprotein expression, are needed to confirm the raised hypothesis.     

The child with a non-blanching rash

Appearance of non-blanching rash in a child is a common reason to seek medical attention. However, most children with non-blanching rash are well from benign self-limiting illness. Only minority of these children have a serious underlying cause such as invasive meningococcal sepsis or malignancy. Therefore a huge responsibility rests on the frontline clinician to unpick the seriously unwell child or the child who could potentially deteriorate from a cohort of all children with non-blanching rash.A good history and examination with specific focus on distribution of non-blanching rash together with vital parameters, baseline blood investigations such as full blood count, clotting, peripheral smear all help to support clinical diagnosis. Presence of bruising and petechial rash over soft tissue areas in a well child in the absence of a clear history or explanation should alert the clinician to think of non-accidental injury in their differential diagnosis.     

Congenital malaria: a rare cause of splenomegaly and anemia in an American infant.

A 38-day-old infant had fever, jaundice, hepatosplenomegaly, and a hemolytic anemia. A peripheral blood smear demonstrated intraerythrocytic malarial parasites identified as Plasmodium vivax. Maternal and infant sera contained antibodies to this species. A directed history revealed the mother had suffered several febrile illnesses in Mexico during her pregnancy. Malaria had not been diagnosed nor was it considered at the time of her delivery at this hospital. Review of this and six other cases of congenital malaria reported in this country since 1950 indicates clinical manifestations seldom appear before 3 weeks of age. Although these signs are more frequently associated with other transplacental infections, their occurrence in an infant whose mother is from or who has traveled in an endemic area should prompt consideration of the diagnosis of congenital malaria.     

Persistent high fever and gall-bladder wall thickening in a child with primary Epstein-Barr viral infection

A 3.5 year old girl presented with a history of high fever, rigors, and mild cough for 1 week. Physical examination revealed normal chest findings but gross hepatomegaly was detected. Liver function tests were abnormal and indicated biliary obstruction. Ultrasonography revealed a distended gall-bladder with increased wall thickness up to 0.6 cm. The diagnosis of primary Epstein-Barr viral infection was eventually made by specific serological study. The patient's fever subsided 2 weeks later and her liver function tests returned to normal 1 month later. Abdominal ultrasonography at this time was normal.     

Persistent high fever and gall-bladder wall thickening in a child with primary Epstein-Barr viral infection

Abstract A 3.5 year old girl presented with a history of high fever, rigors, and mild cough for 1 week. Physical examination revealed normal chest findings but gross hepatomegaly was detected. Liver function tests were abnormal and indicated biliary obstruction. Ultrasonography revealed a distended gall-bladder with increased wall thickness up to 0.6 cm. The diagnosis of primary Epstein-Barr viral infection was eventually made by specific serological study. The patient's fever subsided 2 weeks later and her liver function tests returned to normal 1 month later. Abdominal ultrasonography at this time was normal.     

Red Cell Distribution Width in the Diagnosis of Iron Deficiency Anemia

Objective: 1. To compare peripheral smear (PS) and Red cell distribution width (RDW) in diagnosis of Iron deficiency anemia (IDA) in various grades. 2. To study the changes in RDW and PS after therapy.Methods : Children in the age group of six months to five years with microcytic (MCV < 80fl) anemia (Hemoglobin < 11g%) were evaluated. Those who had received blood transfusion and /or were already on iron therapy were excluded. Evaluation included clinical examination, complete blood count (CBC), RDW estimation microscopic examination of peripheral smear, measurement of serum iron and transferrin saturation. Children with IDA were treated with oral iron for 8 weeks and PS, CBC including RDW were repeated.Result: Of the 100 children evaluated, 89 had IDA. 48% had mild, 42% had moderate and 10% had severe anemia. Transferrin saturation correlated with severity of anemia. Peripheral smear showed microcytosis and hypochromia in all cases with severe anemia, 61.5% and 22.5% of those with moderate and mild anemia respectively. RDW was suggestive of iron deficiency in 100%, 82.05% and 100% of patient with mild, moderate and severe anemia respectively.Conclusion : In the diagnosis of mild and moderate iron deficiency anemia, RDW had a higher sensitivity than PS. Red cell morphology, Hb, PCV and RDW showed significant improvement after iron-therapy     

Laboratory diagnosis of malaria

Malaria parasites can easily be detected and the species identified by proper examination of the peripheral smears from the patients. JSB staining gives a very satisfactory preparation if done properly. It is very quick staining technique and ideal for laboratory examination for malaria parasites. The thin smear gives all the details of the parasite and should be examined since time is not a factor in arriving at correct diagnosis.     

Inherited neuromuscular disorders: pathway to diagnosis

Muscle weakness in childhood can be caused by a lesion at any point extending from the motor cortex, brainstem and spinal cord to the anterior horn cell, peripheral nerve, neuromuscular junction and muscle. A comprehensive history and physical examination is essential to aid classification of the neuromuscular disorder and direct gene testing. The more common disorders such as spinal muscular atrophy, Duchenne muscular dystrophy, myotonic dystrophy and facioscapulohumeral dystrophy may be diagnosed on direct gene testing based on the history and clinical examination. The congenital myopathies are classified based on structural abnormalities on muscle biopsy, while protein abnormalities on immunohistochemistry and immunoblotting aid classification of the muscular dystrophies. In this review, we provide an approach to diagnosis of a child with weakness, with a focus on the inherited neuromuscular disorders, and the features on history, examination and investigation that help to distinguish between them.     

A child with bilateral proptosis: a sign of acute myeloid leukemia?

A 5-year-old girl from Rwanda was referred to our pediatric oncology department with severe bilateral proptosis and a bloody, necrotic chemosis of the conjunctiva and infraorbital tissues. Furthermore, she presented with a left facial paresis, hemorrhagic gingiva, epistaxis, and bloody tears. There was a 3-month history of pancytopenia. Investigations that included a complete blood count, peripheral blood smear, and bone marrow aspirate, were conclusive for the diagnosis of acute myeloid leukemia.     

A Child with Eosinophilia,Loeffler Endocarditis,and Acute Lymphoblastic Leukemia

We present an 8-year-old male with Loeffler endocarditis and acute lymphoblastic leukemia with hypereosinophilia (ALL/Eo) who initially presented with a 3-month history of peripheral eosinophilia thought to be due to visceral larval migrans. Despite treatment for Toxocara, his leukocytosis persisted and he developed mitral valve insufficiency and congestive heart failure. Myocardial biopsy revealed fibrosis and thrombus formation indicative of Loeffler endocarditis, and a peripheral smear showed pre-B-cell acute lymphoid leukemia. This unique case highlights a rare, yet serious sequella of prolonged eosinophilia.     

儿童侵袭性真菌病的实验室检查方法与评价

儿童侵袭性真菌病（ invasive fungal disease，IFD）往往缺乏特征性的临床表现及影像学改变，是ICU中不易早期诊断的严重疾病。IFD的临床诊断多是针对高危人群借助实验室检测做出的。IFD的实验室检查通常包括直接检测（涂片镜检、真菌培养、组织病理学检查等）、血清学检测（1，3-β-D葡聚糖检测、半乳甘露聚糖检测等），近年分子生物学检测也有一定发展。合理使用实验室检查及正确评价实验结果，是诊断IFD的关键之一。     

Living donor liver transplantation for giant cavernous hemangioma of liver in a child

Sood D, Mohan N, Singh A, Buxi TBS, Nundy S, Soin AS. Living donor liver transplantation for giant cavernous hemangioma of liver in a child.
Pediatr Transplantation 2011: 15: E135–E139. © 2010 John Wiley & Sons A/S. Abstract: A 10‐yr‐old girl presented with a seven‐month history of upper abdominal discomfort and weight loss. Physical examination revealed an abdominal lump in the right hypochondrium and epigastrium. Ultrasound examination and a computerized tomographic scan showed a large lobulated mass arising from segments I, 1V, and VIII of liver with arteriovenous shunting and multiple small masses in segments VI and VII. An initial diagnosis of hemangioendothelioma with metastasis was made elsewhere following which she received chemotherapy. She had persistent abdominal discomfort because of which she became dependent on narcotics. The patient had fever because of tumor necrosis and also developed peripheral neuropathy. Finally, owing to progressively worsening of symptoms, she underwent left lobe living donor liver transplantation. Histopathological examination showed the mass to be a cavernous hemangioma, and the patient is now well.     

Intestinal obstruction at the onset of acute lymphoblastic leukemia in a child

Surgical complications need not be fatal in acute leukemia. If these are promptly diagnosed and properly treated, the prognosis will improve. This report deals with a case of acute lymphoblastic leukemia presenting with an acute abdomen following surgery for choledochal cyst. A peripheral blood smear and examination of the bone marrow revealed acute lymphoblastic leukemia. The child received transfusions of blood and platelets. Pretreatment with prednisolone was started as therapy for leukemia, and 2 days later, the patient underwent surgery. Therapy was continued until the general condition allowed a more aggressive form of treatment. Complete remission was achieved, and the patient is still in good health 48 months after diagnosis and 15 months after discontinuation of treatment. The favorable outcome in this child shows that prompt surgery is sometimes an essential step in the treatment of childhood leukemia.     

Transient granulocyte maturation arrest: discovery by flow cytometry of a variant form of agranulocytosis

A 5-year-old child presented with pneumonia and agranulocytosis. A Wright-stained peripheral blood smear showed only cells which had the morphological appearance of lymphocytes, plus a few monocytes and eosinophils. A bone marrow aspirate smear showed a complete lack of recognizable granulocyte precursors. However, the admission CBC and differential performed by automated flow cytochemistry (Technicon Instruments Corporation H-6000) measured 32% granulocytes as determined by peroxidase activity. Cytochemical stains on the blood and marrow smears revealed that many of the cells that had the morphological appearance of lymphocytes were positive for myeloperoxidase activity. Special studies on these cells revealed them to be abnormal, intermediate granulocytes with azurophilic, peroxidase-containing primary granules, but with few secondary granules and limited lactoferrin activity. Over 28 days the child recovered, first with granulocytic hyperplasia in the marrow and then a return of the peripheral blood to normal. This is the first case report of an episode of transient "agranulocytosis" which in reality was a maturation arrest.     

The infant with acute, unexplained, excessive crying

This study describes 56 infants who presented to the Emergency Department of The Children's Hospital of Denver during a 1-year period with an episode of excessive, prolonged crying, without fever and without a cause that was apparent to the parents. The final diagnoses included a broad array of conditions, of which 61% were considered serious. The history provided clues to the final diagnosis in 20% of cases. Physical examination revealed the final diagnosis in 41% and provided clues to the diagnosis in another 13%. Accurate diagnosis requires a thorough physical examination, which should include careful skin inspection underneath all clothing, palpation of all large bones, fluorescein staining of the cornea, eversion of eyelids, rectal examination, retinal examination, and thorough neurologic examination. "Screening" laboratory tests, except for urinalysis and urine culture, were of little help. This study indicates that for those patients in whom the physical examination is not diagnostic, the persistence of excessive crying after the initial examination predicts the presence of a serious cause. Those infants who cease crying before or during the initial assessment are unlikely to have a serious cause. Recommendations for a stepwise assessment are offered.     

Frequency of portal and systemic bacteremia in acute appendicitis

BACKGROUND: Acute appendicitis is the most common condition requiring an emergency abdominal operation in childhood. In the present study, we analyzed the frequency of portal and systemic bacteremia in 42 patients with acute appendicitis and determined the microbial agents responsible for an acute appendicitis and for portal and systemic bacteremia. METHODS: Appendectomies were performed on 50 young patients (5-18 years of age), as well as clinical and bacteriological tests. Six independent samples from each patient isolated from the peripheral vein, superior mesenteric vein, appendix and peritoneum were obtained prior to surgery, during surgery and after surgery for biochemical, immunologic and bacteriologic examination. RESULTS: Pathohistology confirmed the diagnosis of appendicitis in 42 patients, while in the other eight patients there were no obvious pathologic findings, so they served as a control group. Of 50 patients with a clinical appearance of acute appendicitis, in 19 patients (38%) we detected portal bacteremia in the mesenteric vein, while in only three cases (6%) did we find systemic bacteremia detected from the peripheral vein. Furthermore, bacteriologic analysis revealed that Bacteroides spp. and Escherichia coli were the predominant species isolated. CONCLUSIONS: The results presented in this paper suggests that portal bacteremia did not influence peripheral blood reactions. Furthermore, in the present study we have found a positive correlation between the smear and bacteremia of the superior mesenteric vein, but not with the bacteremia of systemic blood.