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Old 09-06-2012
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Arrow Gyrus Daily Questions; Pediatrics #10

A 4-year-old girl presents with a 1-year history of monthly episodes of fever and aphthous stomatitis. A CBC 6 months prior was reportedly normal, but a CBC now reveals a total neutrophil count of less than 200/mm3. The remainder of the CBC is normal. Physical examination reveals an inflamed pharynx and oral mucosa with several aphthous lesions on the gingival and buccal mucosa. There are bilateral, tender anterior cervical lymph nodes, the largest of which is about 4 cm in diameter. The remainder of the physical examination is normal. The most likely diagnosis is which of the following?

(A) Chediak-Higashi syndrome
(B) cyclic neutropenia
(C) HIV infection
(D) leukemia
(E) Schwachman-Diamond syndrome
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Old 09-06-2012
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I have no idea what this is.... I would guess B
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Quote:
Originally Posted by cingulate.gyrus View Post
A 4-year-old girl presents with a 1-year history of monthly episodes of fever and aphthous stomatitis. A CBC 6 months prior was reportedly normal, but a CBC now reveals a total neutrophil count of less than 200/mm3. The remainder of the CBC is normal. Physical examination reveals an inflamed pharynx and oral mucosa with several aphthous lesions on the gingival and buccal mucosa. There are bilateral, tender anterior cervical lymph nodes, the largest of which is about 4 cm in diameter. The remainder of the physical examination is normal. The most likely diagnosis is which of the following?

(A) Chediak-Higashi syndrome
(B) cyclic neutropenia
(C) HIV infection
(D) leukemia
(E) Schwachman-Diamond syndrome

B.)cyclic neutropenia
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Old 09-06-2012
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I would say B, Chediak Higashi has partial albinism and aberrations in PMN wheras option E is like a cystic fibrosis wannabe + aplastic anemia wannabe thingy hahaha
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Quote:
Originally Posted by cingulate.gyrus View Post
A 4-year-old girl presents with a 1-year history of monthly episodes of fever and aphthous stomatitis. A CBC 6 months prior was reportedly normal, but a CBC now reveals a total neutrophil count of less than 200/mm3. The remainder of the CBC is normal. Physical examination reveals an inflamed pharynx and oral mucosa with several aphthous lesions on the gingival and buccal mucosa. There are bilateral, tender anterior cervical lymph nodes, the largest of which is about 4 cm in diameter. The remainder of the physical examination is normal. The most likely diagnosis is which of the following?

(A) Chediak-Higashi syndrome
(B) cyclic neutropenia
(C) HIV infection
(D) leukemia
(E) Schwachman-Diamond syndrome

Cyclic neutropenia

Quote:
Most of the patients present in the first year of life with Periodic fever, neutropenia. Cyclic neutropenia is associated with mouth ulcers during neutropenic periods.2 Fever may also be a presenting symptom during these periods. Consideration may be given to blood count measurement if fever and mouth ulcers regularly occur together.

Last edited by Novobiocin; 09-06-2012 at 10:16 AM.
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Old 09-06-2012
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Answer (B)

This child probably has cyclic neutropenia,

a defect in the production of granulocyte-macrophage colony-stimulating factor (GM-CSF). In these patients GM-CSF is produced in a cyclic rather than continuous manner. Episodes of neutropenia, often accompanied by fever, aphthous stomatitis, and cervical lymphadenitis recur at regular intervals, usually every 21–42 days. Few other conditions have such a remarkable periodicity.

Schwachman- Diamond syndrome is the association of neutropenia with exocrine pancreatic insufficiency. Chediak-Higashi syndrome is an autosomal recessive disorder characterized by morphologically abnormal neutrophils, recurrent infections, partial albinism, mental retardation, and eventual pancytopenia.
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