Pathology 31
TheOne - 11-09-06 13:51 Bookmark and Share

A 7-month-old child is hospitalized for a yeast infection that does not respond to therapy. The patient has a history of multiple, acute pyogenic infections. Physical examination reveals that the spleen and lymph nodes are not palpable. A differential WBC count shows 95% neutrophils, 1% lymphocytes, and 4% monocytes. A bone marrow biopsy contains no plasma cells or lymphocytes. A chest x-ray reveals the absence of a thymic shadow. Tonsils are absent. These findings are most consistent with ?

A. Bloom's syndrome
B. chronic granulomatous disease
C. severe combined immunodeficiency
D. Waldenstrom's macroglobulinemia
E. Wiskott-Aldrich syndrome

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#1
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Kimo - 11-09-06 14:59

shouldnt the answer be DiGeorge Syndrome ????

#2
Re: Pathology 31
v94527 - 11-20-06 12:50

b

#3
Re: Pathology 31
v94527 - 11-20-06 13:30

c

#4
Re: Pathology 31
TheOne - 11-21-06 16:00

Explanation: The correct answer is C. Severe combined immunodeficiency (SCID) is associated with deficiencies in both B and T cells due to a defect in differentiation of an early stem cell. Over 50% of the cases are caused by a gene defect on the X chromosome, resulting in a defective IL-2 receptor. The disease may exhibit a sex-linked or an autosomal recessive pattern of inheritance. The autosomal recessive variant is characterized by a deficiency of adenosine deaminase, which results in accumulation of metabolites that are toxic to both B and T stem cells in the bone marrow. Children usually die within the first 2 years of life with severe infections unless they receive bone marrow transplants. Bloom's syndrome (choice A) is an autosomal recessive disorder included in the chromosomal instability group of syndromes. It is associated with small body size, immunodeficiency, light-sensitive facial erythema, and a major predisposition to cancer. Chronic granulomatous disease (choice B) is caused by a deficiency of NADPH oxidase in neutrophils, resulting in loss of the first step of the myeloperoxidase system, and an absence of the respiratory burst. Patients are susceptible to staphylococcal infections and granulomatous infections. Waldenstr?m's macroglobulinemia (choice D) is a monoclonal gammopathy characterized by high serum levels of IgM and hyperviscosity complications. Wiskott-Aldrich syndrome (choice E) is an immunodeficiency syndrome characterized by thrombocytopenia, eczema, and recurrent sinopulmonary infections. The patient has low levels of IgM and increased levels of IgG, IgA, and IgE.

#5
Re: Pathology 31
galaxy - 05-28-10 02:18

A bone marrow biopsy contains no plasma cells or lymphocytes. A chest x-ray reveals the absence of a thymic shadow. Tonsils are absent. These findings are most consistent with ?

C. severe combined immunodeficiency

#6
Re: Pathology 31
babbu5508 - 06-21-10 15:49

C. severe combined immunodeficiency ..no plasma cells or lymphocytes.no thymus and tonsils..recurrent pyogenic infections..

#7
Re: Pathology 31
ibroramus - 06-22-10 02:29

The answer is C due to the neutrophilia and deficiency of B and T cells

#8
Re: Pathology 31
bingousmle - 06-30-10 21:39

Chronic granulomatous disease- caused by a deficiency of NADPH oxidase in neutrophils, resulting in loss of the first step of the myeloperoxidase system, and an absence of the respiratory burst.

#9
Re: Pathology 31
dinmenace - 06-30-11 23:42

b

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