A case with full clinical manifestations of Dorfman-Chanarin syndrome

Open Medicine ◽  
2007 ◽  
Vol 2 (1) ◽  
pp. 116-121
Author(s):  
Fatma Çuhaci ◽  
Rüya Mutluay ◽  
Burhan Aksakal ◽  
Yasemin Erten
Keyword(s):  
Peripheral Blood ◽  
Blood Smear ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Peripheral Blood Smear ◽  
Congenital Ichthyosis ◽  
Blood Smear Examination ◽  
History Of ◽  
Lipid Vacuoles ◽  
Peripheral Leukocytes

AbstractDorfman-Chanarin syndrome (DCS), is a rare, autosomal recessive disorder associated with lipid metabolism. It is characterized by ichthyosiform nonbullous erythroderma, lipid vacuoles in peripheral leukocytes and variable involvement of organs. We report a Turkish man with the complete syndrome, who described family history of ichthyosis. To best of our knowledge this is the sixth case from Turkish origin to date. In addition to congenital ichthyosis he had also strabismus, horizantal nystagmus, bilateral neurosensory hearing loss, hepatomegaly and splenomegaly. Liver biopsy revealed hidrophic degeneration in hepatocytes, steatosis, enlargement and inflammation in portal areas and portal central fibrosis, consistent with cirrhosis. Write stained peripheral blood smear examination revealed lipid vacuoles in all of the neutrophils consistent with Jordan’s anomaly. We think that, it is essential to evaluate the peripheral blood smear of the patients with ichthyosis and also patients with DCS should be informed and warned about the results of consanquinous marriage.

Congenital Malaria: A Rare Cause of Splenomegaly and Anemia in an American Infant

PEDIATRICS ◽  
1977 ◽  
Vol 60 (2) ◽  
pp. 209-212
Author(s):  
D. Thompson ◽  
C. Pegelow ◽  
A. Underman ◽  
D. Powars
Keyword(s):  
Plasmodium Vivax ◽  
Hemolytic Anemia ◽  
Peripheral Blood ◽  
Endemic Area ◽  
Blood Smear ◽  
Clinical Manifestations ◽  
Peripheral Blood Smear ◽  
Pregnancy Malaria ◽  
Congenital Malaria

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.

Progressive Imbalance and Visual Impairment in a Patient With Diabetes

2021 ◽  
pp. 248-250
Author(s):  
Neeraj Kumar
Keyword(s):  
Lower Limb ◽  
Peripheral Blood ◽  
Blood Smear ◽  
Serum Gastrin ◽  
Methylmalonic Acid ◽  
Intrinsic Factor ◽  
Peripheral Blood Smear ◽  
Vitamin B ◽  
Neurologic Manifestations ◽  
History Of

A 72-year-old man with hypothyroidism and type 2 diabetes sought care for a 3-year history of slowly progressive, ascending lower limb paresthesias and imbalance. Three months earlier, he noted subacute onset of finger numbness and substantial worsening of imbalance with infrequent falls. He also had a 1-year history of progressive visual decline that persisted despite cataract surgery. Additional symptoms included intermittent light-headedness and confusion. Laboratory evaluations showed a decreased hemoglobin value and an increased mean corpuscular volume. Macrocytic red blood cells were noted on a peripheral blood smear. Serum vitamin B12 level was less than 70 ng/L. Levels of plasma homocysteine and serum methylmalonic acid were markedly increased to 375 µmol/L and 143 nmol/L, respectively. Serum copper level was normal. Serum parietal cell antibodies were increased to 46 U, and intrinsic factor antibodies were absent. Serum gastrin was markedly increased. The clinical presentation in this patient suggested a myeloneuropathy. His vitamin B12 level was undetectable and accompanied by a macrocytic anemia and increased methylmalonic acid and homocysteine levels. Even though intrinsic factor antibodies were negative, the clinical picture was supportive of subacute combined degeneration in the setting of pernicious anemia. The patient was started on vitamin B12 replacement. At 6-month follow-up he had striking improvement in gait and vision. The light-headedness and confusion were no longer present. His examination was remarkable only for mild impairment, with tandem gait and a slightly positive Romberg sign. The lower limb reflexes were reduced. Impaired position perception at the toes persisted, but vibration perception in the lower limbs improved. Laboratory investigations showed normalization of the hemoglobin, vitamin B12, methylmalonic acid, and homocysteine levels. The serum gastrin level had improved but was still increased at 742 pg/mL. The best-characterized neurologic manifestations of vitamin B12 deficiency include myelopathy and myeloneuropathy. Autonomic neuropathy, optic neuropathy, and neuropsychiatric manifestations have also been reported. Neurologic manifestations may occur without evidence of the characteristic hematologic derangement, megaloblastic anemia. Macrocytosis or hypersegmented neutrophils on peripheral blood smear may be clues.

scholarly journals Erythrocyte Morphology in Women of Reproductive Age (WORA) with Anemia

Biomedika ◽  
2020 ◽  
Vol 13 (1) ◽  
pp. 83-91
Author(s):  
Alex Jekson Tukira ◽  
Lucia Sincu Gunawan ◽  
Edy Prasetya
Keyword(s):  
Peripheral Blood ◽  
Blood Smear ◽  
Peripheral Blood Smear ◽  
Reproductive Age ◽  
Target Cells ◽  
Women Of Reproductive Age ◽  
Erythrocyte Morphology ◽  
Smear Examination ◽  
Blood Smear Examination ◽  
Laboratory Technology

Anemia is a decrease in the number of erythrocytes in the blood circulation or the level of hemoglobin that is less than normal. The three major body mechanisms that cause anemia are excessive destruction of erythrocytes, blood loss, and decreased erythrocyte production. Based on the Basic Health Research (Riskesdas) in 2013, the prevalence of anemic women of reproductive age (WORA) aged 15-44 years in Indonesia was 35.3%. Anemia is classified based on the morphology of erythrocytes, including hypochromic microcytic, normocytic normochromic, and macrocytic. Erythrocyte morphology can be observed using peripheral blood smear examination. The objective of this study was to determine the morphology of erythrocytes in anemic women of reproductive age. This study belongs to descriptive research. The population of the study was 136 women of reproductive age, covering the students of D-IV in Medical Laboratory Technology at Setia Budi University. Forty-one respondents suffering from anemia were taken using a purposive sampling technique. The types of anemia were determined with examination using an Easy Touch hemoglobinometer with the Hb level of less than 12g/dL. Preparation of peripheral blood smear examination using EDTA venous blood and stained with Giemsa. Microscopic examination was performed with 1000x objective magnification. The peripheral blood smear reading showed the erythrocyte morphology that includes normocytic normochromic (38 samples or 93%), microcytic hypochromic (three samples or 7%), and poikilocytosis consisting of teardrop cells, target cells, ellipstocytes, and stomatocytes (five samples or 18%). Further study is required to investigate the correlation of erythrocyte index and peripheral blood smear in anemia.

scholarly journals Hematological and biochemical profile of person with macrocytic anemia in a tertiary health care centre of Nepal

2020 ◽  
Vol 10 (2) ◽  
pp. 1722-1727
Author(s):  
Rakesh Pathak ◽  
Sujata Pudasaini ◽  
Sushmita Ghimire ◽  
Anil Singh Basnyat ◽  
Anuj KC
Keyword(s):  
Folic Acid ◽  
Blood Cell ◽  
Red Blood Cell ◽  
Peripheral Blood ◽  
Blood Smear ◽  
Hematological Parameters ◽  
Macrocytic Anemia ◽  
Peripheral Blood Smear ◽  
Blood Smear Examination ◽  
Red Blood Cell Indices

Background: Anemia is a nutritional problem worldwide with an increased risk of morbidity and mortality in all age groups. Macrocytic anemia often originates from abnormalities that impair the erythroid precursor maturation in the bone marrow. Since the clinical manifestations of different types of anemias are similar, hematological parameters including hemoglobin, Red blood cell indices, and Peripheral Blood Smear examination are useful in the diagnosis of anemia. Materials and Methods: This was a cross-sectional study done in the Department of Pathology at Nepal Medical College Teaching hospital. A total of 42 patients between 14 to 62 years with low Hb concentration according to the World Health Organization criteria for anemia were selected and a mean cell volume > 100 fL was taken for study. Peripheral blood smear examination, Red blood cell indices, Vitamin B12, and Folic acid level were evaluated. Results: There were 42 patients with macrocytic anemia enrolled in the study with a mean age of 31.85±12.49 years and with female preponderance. Hemoglobin level was slightly low in males compared to females. Red blood cell indices were slightly higher in males. The difference of serum Vit B12 and Folic acid in male and female was found to be significant. Conclusions: It was concluded that for the diagnosis of a specific type of anemia, hemoglobin, Red blood cell indices, reticulocytes percent, and PBS examination were important parameters. Serum Folic acid and Vitamin B12 level estimation along with other hematological parameters are important for the diagnosis of macrocytic anemia and its correlation

scholarly journals Comparison of quinine-doxycycline and quinine-clindamycin for falciparum malaria in children

2011 ◽  
Vol 51 (4) ◽  
pp. 187
Author(s):  
Ditho Athos P. Daulay ◽  
Yunnie Trisnawati ◽  
Syamsidah Lubis ◽  
Munar Lubis ◽  
Syahril Pasaribu
Keyword(s):  
Falciparum Malaria ◽  
Peripheral Blood ◽  
Blood Smear ◽  
Controlled Trial ◽  
Peripheral Blood Smear ◽  
Combination Group ◽  
Cure Rate ◽  
Doxycycline Treatment ◽  
Blood Smear Examination

Objective To compare the efficacy of quinine-doxycycline to quinine-clindamycin combination, as treatment for uncomplicated falciparum malaria in children.Methods This randomized open labelled controlled trial was conducted from July to August 2007 at Mandailing Natal, Sumatera Utara Province. The subjects were 8 – 18 year old children with positive Plasmodium falciparum from the peripheral blood smear. Simple randomization was performed to determine subject study into two groups of treatment, one group received quinine-clindamycin and the other received quinine-doxycycline treatment. The parasitemia was counted on day 0, 2, 7 and 28. We also observed the adverse effects of the antimalarial combination.Results Two hundred and forty six children who fulfilled the inclusion criteria were divided into two groups. All subjects completed the study. Cure rate achieved 100% from peripheral blood smear examination at the second day observation and showed no recrudescence at day 28th. (P=0.0001). During 28 days follow up, there were 21 (17.6%) patients suffered from headache, 18 (14.6%) vomit and 40 children (32.5%) suffered from tinnitus in quinine-doxycycline combination, compared to quinine-clindamycin combination group only 4 (3.3%) suffered from headache, 1 (0.8%) suffered from tinnitus and there was no vomiting experience in any patient (P < 0.0001).Conclusion Combination of quinine with either clindamycin or doxycycline are effective as an alternative antimalarial treatment. The combination of quinine-clindamycin is well tolerated than the combination of quinine-doxyciline, and this combination may be particular value for young children and pregnant women, as these two groups cannot receive doxycycline.

scholarly journals Comparison of peripheral blood smear examination with automated haematology analyzer for diagnosing different types of anemia.

2021 ◽  
Vol 28 (10) ◽  
pp. 1433-1437
Author(s):  
Rabiah Asghar ◽  
Javera Tariq ◽  
Nabeela Naeem ◽  
Anila Zafar ◽  
Khadija Qureshi ◽  
...  
Keyword(s):  
Diagnostic Accuracy ◽  
Peripheral Blood ◽  
Blood Smear ◽  
Hypochromic Anemia ◽  
Peripheral Blood Smear ◽  
Smear Examination ◽  
Blood Smear Examination ◽  
Hematology Analyzer ◽  
Different Types ◽  
Automated Hematology Analyzer

Objective: This study aims to determine diagnostic accuracy of peripheral blood smear and automated haematology analyzer and to determine frequency of different types of anemia diagnosed by peripheral blood smear and automated hematology analyzer. Study Design: Cross Sectional study. Setting: Department of Pathology, Rawal Institute of Health Sciences, Islamabad. Period: November 2015 to April 2016. Material & Methods: Sample size of 149 suspected anemia patients was calculated using WHO calculator with 95% confidence interval. Research approval was taken from hospital ethical board. Patients were approached through non probability consecutive sampling method. Both peripheral blood smear examination and automated haematology analysis of each sample was performed. Diagnostic accuracy and frequency of anemia types was measured. Data analysis was done with the help of SPSS version 25. Chi-square and fissure exact test and ROC curve analysis was applied and significant (p<0.05) results were reported. Results: Total 149 patients were included in study. There were 42(28.2%) male and 107(71.8%) female.  Mean age of patients was 35.1±2.1SD. Peripheral blood smear and automated haematology analyzer showed sensitivity (68% vs 92%), specificity (59% vs 88%), PPV (72% vs 92%), NPV (55% vs 88%) and diagnostic accuracy (64% vs 91) respectively. Most common type of anemia diagnosed with peripheral blood smear was microcytic hypochromic anemia with raised RDW 36.7% followed by normocytic normochromic anemia with raised RDW 13.3% and macrocytic anemia (p=0.001) while in automated haematology analyzer microc ytic hypochromic anemia with raised RDW54.4% followed by normochromic normocytic anemoia with normal RDW 11.1% (p=0.000). Conclusion: Automated haematyology analyzer had high diagnostic accuracy for diagnosis of anemia.  Microcytic hypochromic anemia and normocytic normochromic are most common anemias diagnosed by peripheral blood smear and automated hematology analyzer and peripheral blood smear cannot be completely replaced by automated haemolytic analyzer. However, if both methods are used simultaneously, more accurate results can be obtained.

Sign in / Sign up

Export Citation Format

Share Document