Gaucher’s Disease

Gaucher’s Disease is an autosomal recessive condition most common in Jews. There is β-glucocerebrosidase deficiency causing deposition of glucocerebroside and related compounds, leading to hepatosplenomegaly, CNS changes and bony infiltration. Glucocerebrosidase normally hydrolyzes glucocerebroside to glucose and ceramide. Genetic defects of the enzyme cause glucocerebroside accumulation in tissue macrophages through phagocytosis, forming Gaucher cells (with onion skin appearance). Accumulation of […]






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Sea Blue Histiocytes

Sea Blue Histiocytes are large lipid-containing histiocytes in the bone marrow which stain sea blue in color. They may be found in a rare autosomal condition characterized by neurological impairment and splenomegaly. Sea-blue–colored histiocytes have been described in the setting of high rates of intramedullary cell death due to lipid storage diseases (e.g. Niemann-Pick disease), myelodysplastic syndromes (MDS), lymphomas, chronic […]






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Chediak-Higashi Syndrome

Chediak-Higashi syndrome (CHS) is a very rare autosomal recessive primary immunodeficiency disorder that arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis and impaired lysis of phagocytized bacteria, resulting in recurrent bacterial respiratory and other infections, albinism, a bleeding tendency, and often progressive neurological disease. Diagnosis of Chediak-Higashi syndrome (CHS) is made by Genetic […]






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Chronic Granulomatous Disease

Chronic Granulomatous Disease (CGD) is a rare inherited disease but is of importance as the study of the condition has helped in the understanding of the phagocyte oxidase system. The inheritance is most commonly x-linked. Affected individuals suffer from recurrent infections, particularly with staphylococci. CGD is a primary immunodeficiency that affects phagocytes of the immune system and leads to recurrent […]






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Lupus Erythematosus (LE) Cells

LE Cell

Lupus Erythematosus (LE) Cells are neutrophils that have engulfed lymphocyte nuclei coated with and denatured by antibody to nucleoprotein. The Lupus Erythematosus (LE) cell was so termed because of its exclusive presence in the bone marrow of 25 patients with confirmed or suspected SLE at the Mayo Clinic. The first three cases were children, the first a 9‐yr‐old with, very […]






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Pelger-Huët Anomaly

Pelger-Huët anomaly is an autosomal dominant benign condition found in 1 in 6000 individuals. The characteristic leukocyte appearance was first reported in 1928 by Pelger, a Dutch hematologist, who described leukocytes with dumbbell-shaped bilobed nuclei, a reduced number of nuclear segments, and coarse clumping of the nuclear chromatin. In 1931 Huet, a Dutch pediatrician, identified it as an inherited disorder. […]






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Leishmaniasis

Introduction: Leishmaniasis is a disease caused by an intracellular protozoan parasite (genus Leishmania) transmitted by the bite of a sand fly. Leishmania promastigotes are transmitted by sand flies to vertebrate hosts. The clinical spectrum of leishmaniasis ranges from a self-resolving cutaneous ulcer to a mutilating mucocutaneous disease and even to a lethal systemic illness. Therapy has long been a challenge in […]






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Lymphatic Filariasis

Elephantiasis

Lymphatic Filariasis is caused by Wuchereria bancrofti, Brugia malayi, and B. timori. The World Health Organization (WHO) has identified lymphatic filariasis as the second leading cause of permanent and long-term disability in the world, after leprosy. Transmission is by mosquitoes. Infective larvae from the mosquito migrate to the lymphatics, where they develop into threadlike adult worms within 6 to 12 […]






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Trypanosomiasis

Sleeping Sickness

American trypanosomiasis, also known as Chagas disease, affects millions of people throughout the Americas. Carlos Chagas first described this disease in 1911 when he discovered the parasite in the blood of a Brazilian child with fever, lymphadenopathy, and anemia. Trypanosoma cruzi, a protozoan hemoflagellate, is the parasite that causes this disease. When humans are infected, the parasite can cause acute […]






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Malaria

Malaria

Aetiology: Malaria is due to infection with specific protozoa of the Plasmodium genus. It is transmitted by the bite of an infective female Anopheles mosquito. The plasmodia undergo a single sexual cycle in the mosquito and recurrent asexual cycles, with the production of sexual forms (gametocytes) in man. Clinical features: The initial incubation period is 9-11 days. The disease is characterized by […]






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