scholarly journals Chediak Higashi syndrome presenting in accelerated phase: a case report and literature review

2017 ◽  
Vol 4 (4) ◽  
pp. 1537
Author(s):  
SHRAVANI M. R. ◽  
Murali B. H. ◽  
Chandrakala Chandrakala ◽  
Chaitra Chaitra ◽  
Varshini Varshini
Keyword(s):  
Clinical Characteristics ◽  
Autosomal Recessive ◽  
Blood Smear ◽  
Hair Analysis ◽  
Peripheral Blood Smear ◽  
Oculocutaneous Albinism ◽  
Bleeding Diathesis ◽  
Lysosomal Disorder ◽  
Chediak Higashi Syndrome ◽  
Spleen And Lymph Nodes

Chediak Higashi syndrome (CHS) is a rare autosomal recessive lysosomal disorder characterized by frequent infections, oculocutaneous albinism, bleeding diathesis and progressive neurologic deterioration. In 85% of cases, CHS patients develop the accelerated phase characterized by pancytopenia, high fever, and lymphohistiocytic infiltration of liver, spleen, and lymph nodes. Treatment of accelerated-phase CHS is difficult and the prognosis is poor. Here, we report a case of CHS in a 1-year-old girl who presented in the accelerated phase of the disease. CHS diagnosis was made on the basis of clinical characteristics, hair analysis and identification of pathognomonic giant azurophilic granules in peripheral blood smear. 

scholarly journals Novel HeterogenousCHS1Mutations Identified in Five Japanese Patients with Chediak-Higashi Syndrome

2010 ◽  
Vol 2010 ◽  
pp. 1-5 ◽  
Author(s):  
Fuminori Tanabe ◽  
Hirotake Kasai ◽  
Michiko Morimoto ◽  
Shigeharu Oh ◽  
Hidetoshi Takada ◽  
...  
Keyword(s):  
Bacterial Infections ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Japanese Patients ◽  
Visual Disturbance ◽  
Oculocutaneous Albinism ◽  
Neurological Dysfunction ◽  
Nonsense Mutations ◽  
Chediak Higashi Syndrome ◽  
Exon 10

Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by oculocutaneous albinism, recurrent bacterial infections and progressive neurological dysfunction. We demonstrate novel heterogenous mutations ofCHS1, the responsive gene of CHS, identified in five Japanese patients with CHS. Patients 1, 2, and 3 were siblings, and they had albinism of the skin and hair. They all had a heterogenous two-base deletion (c.5541-5542 del AA, p.Q1847fsX1850) in exon 18. Patient 4 had a heterogenous single-base insertion (c.3944-3945 ins C, p.T1315fsX1331) in exon 10. The patient exhibited severe early-onset phenotype and suffered from hemophagocytic lymphohistiocytosis. Patient 5 had two heterogenous nonsense mutations; c.7982C>G, p.S2661X in exon 30 and c.8281A>T, p.R2761X in exon 31. The patient suffered from infections in childhood and had visual disturbance and albinism of the skin and hair. TheCHS1mutations described here have not been reported previously.

scholarly journals Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism

Genes ◽  
2021 ◽  
Vol 12 (4) ◽  
pp. 508
Author(s):  
Hwei Wuen Chan ◽  
Elena R. Schiff ◽  
Vijay K. Tailor ◽  
Samantha Malka ◽  
Magella M. Neveu ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Autosomal Recessive ◽  
Oculocutaneous Albinism ◽  
Whole Genome ◽  
Ocular Albinism ◽  
Panel Testing ◽  
Hereditary Disorders ◽  
Foveal Hypoplasia ◽  
Hermansky Pudlak Syndrome ◽  
Chediak Higashi Syndrome

Albinism encompasses a group of hereditary disorders characterized by reduced or absent ocular pigment and variable skin and/or hair involvement, with syndromic forms such as Hermansky–Pudlak syndrome and Chédiak–Higashi syndrome. Autosomal recessive oculocutaneous albinism (OCA) is phenotypically and genetically heterogenous (associated with seven genes). X-linked ocular albinism (OA) is associated with only one gene, GPR143. We report the clinical and genetic outcomes of 44 patients, from 40 unrelated families of diverse ethnicities, with query albinism presenting to the ocular genetics service at Moorfields Eye Hospital NHS Foundation Trust between November 2017 and October 2019. Thirty-six were children (≤ 16 years) with a median age of 31 months (range 2–186), and eight adults with a median age of 33 years (range 17–39); 52.3% (n = 23) were male. Genetic testing using whole genome sequencing (WGS, n = 9) or a targeted gene panel (n = 31) gave an overall diagnostic rate of 42.5% (44.4% (4/9) with WGS and 41.9% (13/31) with panel testing). Seventeen families had confirmed mutations in TYR (n = 9), OCA2, (n = 4), HPS1 (n = 1), HPS3 (n = 1), HPS6 (n = 1), and GPR143 (n = 1). Molecular diagnosis of albinism remains challenging due to factors such as missing heritability. Differential diagnoses must include SLC38A8-associated foveal hypoplasia and syndromic forms of albinism.

scholarly journals Chédiak-Higashi syndrome: presentation of seven cases

1998 ◽  
Vol 116 (6) ◽  
pp. 1873-1878 ◽  
Author(s):  
Eugénia Maria Grilo Carnide ◽  
Cristina Miuki Abe Jacob ◽  
Antonio Carlos Pastorino ◽  
Raquel Bellinati-Pires ◽  
Maria Beatriz Guimarães Costa ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Infectious Complications ◽  
Oculocutaneous Albinism ◽  
Recurrent Infections ◽  
Laboratory Findings ◽  
Public Care ◽  
Cytoplasmic Granules ◽  
Allergy And Immunology ◽  
Chediak Higashi Syndrome ◽  
Rare Autosomal Recessive Disease

CONTEXT: Chédiak-Higashi Syndrome (CHS) is a rare autosomal recessive disease characterized by recurrent infections, giant cytoplasmic granules, and oculocutaneous albinism. OBJECTIVE: To describe clinical and laboratory findings from CHS patients. DESIGN: Case report. SETTING: The patients were admitted into the Allergy and Immunology Unit of the Instituto da Criança, a tertiary public care institution. CASES REPORT: Seven patients had oculocutaneous albinism, recurrent infections and giant cytoplasmic granules in the leukocytes. One patient had low IgG levels and three showed impaired bactericidal activity of neutrophils. Six patients died of infectious complications during the accelerated phase. Therapy included ascorbic acid and antibiotics. Chemotherapy was used for the accelerated phase in two patients. Bone marrow transplantation (BMT) was proposed for one patient. DISCUSSION: The authors emphasize the need for early diagnosis and therapy of CHS. BMT should be indicated before the accelerated phase of the disease has developed.

Hermansky-Pudlak Syndrome and Chediak-Higashi Syndrome: Disorders of Vesicle Formation and Trafficking

2001 ◽  
Vol 86 (07) ◽  
pp. 233-245 ◽  
Author(s):  
Marjan Huizing ◽  
Yair Anikster ◽  
William Gahl
Keyword(s):  
Autosomal Recessive ◽  
Dense Body ◽  
Oculocutaneous Albinism ◽  
Clinical Findings ◽  
Vesicle Formation ◽  
Platelet Storage ◽  
A Subunit ◽  
Hermansky Pudlak Syndrome ◽  
Chediak Higashi Syndrome ◽  
Golgi Network

SummaryThe rare autosomal recessive metabolic disorders Hermanky-Pudlak syndrome (HPS) and Chediak-Higashi syndrome (CHS) share the clinical findings of oculocutaneous albinism and a platelet storage pool deficiency. In addition, HPS exhibits ceroid lipofuscinosis and CHS is characterized by infections and an accelerated phase. The two disorders result from defects in vesicles of lysosomal lineage. Of the two known HPS-causing genes, HPS1 has no recognizable function, while ADTB3A codes for a subunit of an adaptor complex responsible for new vesicle formation from the trans-Golgi network. Other HPS-causing genes are likely to exist. The only known CHS-causing gene, LYST, codes for a large protein of unknown function. In general, HPS appears to be a disorder of vesicle formation and CHS a defect in vesicle trafficking. These diseases and their variants mirror a group of mouse hypopigmentation mutants. The gene products involved will reveal how the melanosome, platelet dense body, and lysosome are formed and trafficked within cells.

PENENTUAN KRITERIA PENILAIAN KESAN JUMLAH LEUKOSIT PADA PEMERIKSAAN APUSAN DARAH TEPI

2018 ◽  
Vol 3 (2) ◽  
pp. 52-61
Author(s):  
Dzikra Arwie ◽  
Islawati
Keyword(s):  
Data Analysis ◽  
Statistical Analysis ◽  
Blood Cells ◽  
Blood Smear ◽  
White Blood Cells ◽  
Peripheral Blood Smear ◽  
Field Of View ◽  
Laboratory Observation ◽  
Number Of Cells

Leukocytes or white blood cells have a characteristic characteristic of different cells. Determination of the impression of the number of leukocytes is determined in the number of cells in the field of view. While the number of viewable field cells expressed is still quite varied. The purpose of this study was to determine the number of leukocytes in the field of view and expressed the impression of a sufficient amount. This research was conducted at the Laboratory of Health Analyst Department Panrita Husada Bulukumba on 9 April 2017 to 14 July 2017. This type of research is a laboratory observation that aims to determine the criteria for assessing the impression of the number of leukocytes on a peripheral blood smear. Data analysis using statistical analysis is the average and standard deviations to determine the impression of the number of leukocytes and use 3 inspection zones. The results of this study obtained results in zone IV the number of leukocyte impressions said to be sufficient was 7-10, in zone V the number of leukocyte impressions said to be sufficient was 4-9, and in zone VI the number of leukocyte impressions said to be sufficient was 3-8.  

STUDI GAMBARAN HASIL PEMERIKSAAN APUSAN DARAH TEPI PADA IBU HAMIL DI LABORATORIUM RSUD H.A.SULTHAN DAENG RADJA KABUPATEN BULUKUMBA

2018 ◽  
Vol 3 (2) ◽  
pp. 13-26
Author(s):  
Rahmat Aryandi ◽  
Subakhir Salnus
Keyword(s):  
Platelet Count ◽  
Pregnant Women ◽  
Blood Smear ◽  
Leukocyte Count ◽  
Marked Change ◽  
Peripheral Blood Smear ◽  
Morphological Examination ◽  
Laboratory Observation ◽  
Hematologic Disorder ◽  
Normal Platelet

During pregnancy, there will be a marked change in anatomy, physiology and biochemistry since the onset of pregnancy and often lackof nutrient intake. Hematologic disorder is often found in pregnant women because it causes pregnant women more susceptible to disturbances in blood circulation, The purpose of this study to determine the description of blood smear results in pregnant women in the laboratory RSUD H.A.Sulthan Daeng Radja District. This research is descriptive with laboratory observation approach. The sample used in this study were 30 samples of pregnant women who checked themselves in the Laboratory of RSUDH.A.Sulthan Daeng Radka Bulukumba District. The result of this research showed the result of peripheral blood smear on the morphology of erythrocytes using 30 samples of pregnant women showed 14 samples (46,66%) normocytic normochrom and the remaining 16 samples were morphological variation (53,33%), on morphological examination and platelet count with using 30 samples of pregnant women showed each 29 samples had morphology and normal platelet counts with respectively 96.66% percentage and platelet aggregation and decreased platelet count (thrombocytopenia) with each persentase 3.33%. At leukocyte morphology examination using 30 samples of pregnant women showed 29 samples had normal morphology with 96,66% percentage and one sample with hypersegmentation with percentage 3,33%. normal leukocyte count at 9 samples with percentage 30% and leukocyte count increased at 21 samples with percentage 70%.

Pancytopenia: A Challenging Problem for Treating Physician

2018 ◽  
Vol 2 (01) ◽  
pp. 22-28
Author(s):  
Md. Rezaul Karim Chowdhury ◽  
Amina Begum ◽  
Md. Haroon Ur Rashid ◽  
Md. Kamrul Hasan
Keyword(s):  
Bone Marrow ◽  
Physical Examination ◽  
Blood Smear ◽  
Peripheral Blood Smear ◽  
Bone Marrow Examination ◽  
Challenging Problem ◽  
Trephine Biopsy ◽  
Life Threatening ◽  
Underlying Pathology ◽  
Careful History

Pancytopenia is an important clinico-haematological entity and striking feature of many serious and life-threatening illnesses. Many haematological and non-haematological diseases involve the bone marrow primarily or secondarily and cause pancytopenia. Decrease in haemopoietic cell production, ineffective haemopoiesis and peripheral sequestration or destruction of the cells are the main pathophysiology of pancytopenia. The cause of pancytopenia thus may be lying in the bone marrow or in the periphery or both. Careful history, physical examination, simple blood work, review of the peripheral blood smear, sometimes bone marrow examination and trephine biopsy are required for diagnosis. Treatment and prognosis depend on the severity of pancytopenia and underlying pathology.

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