Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027947 (neutropenia)
 17,527 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 4-year-old male, castrated, mixed-breed dog was presented to the Colorado State University Veterinary Teaching Hospital with a 1-week history of polyuria, polydipsia, lethargy, fever, inappetence, weight loss, and soft mucoid stool. The dog was depressed and had pale, icteric mucous membranes. Results of a CBC included normocytic, normochromic, nonregenerative anemia, neutropenia, and thrombocytopenia, with 43% blast cells (200/microL), many of which contained fine azurophilic granules. Cytologic evaluation of the bone marrow aspirates revealed mild granulocytic hyperplasia that appeared to be left-shifted in an apparent maturation arrest. A large population of blast cells comprised 35% of nucleated cells; the blasts had high nuclear to cytoplasmic ratios, deeply basophilic cytoplasm with vacuoles, and prominent nucleoli. Most cells also contained many fine azurophilic granules clustered in the paranuclear region. At necropsy, neoplastic cells were abundant in the bone marrow. Immunohistochemically the cells expressed CD3epsilon, and an oligoclonal T-cell rearrangement was found. The diagnosis was proliferative disorder of CD3(+) granular lymphocytes, with associated pancytopenia. Because the blast cells were morphologically similar to myeloblasts and immunohistochemistry was required to confirm the diagnosis, T-cell lymphoproliferative disease should be considered in dogs with pancytopenia presenting with similar clinical features.
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PMID:What is your diagnosis? Pancytopenia in a dog. 1905 79

Germinomas are highly immunogenic tumors eliciting a strong peri-tumoral immune response that can spillover into the surrounding healthy tissues. This phenomenon can also occur in intracranial germinomas, manifesting as secondary hypophysitis. Herein, we report a case of 12-year-old-girl presenting with polyuria and polydispsia. She had central diabetes insipidus (CDI) and panhypopituitarism. Imaging revealed a sellar-suprasellar mass with infundibular stalk thickening. Transphenoidal biopsy revealed epithelioid granulomas with immunostaining negative for germinomatous cells. Other causes of hypophysitis were ruled out. Accordingly, she was diagnosed as primary granulomatous hypophysitis and treated with high-dose corticosteroids. Three years later she again presented with headache, vomiting and diminution of vision. Imaging showed a heterogeneous, solid-cystic peripheral rim-enhancing lesion at the same location with involvement of hypothalamus, ependyma and pineal gland. Cerebrospinal fluid beta-human chorionic gonadotropin was markedly elevated, confirming the diagnosis of an intracranial germ cell tumor. She was started on chemotherapy; however, she succumbed to febrile neutropenia. We performed a literature search and found 18 anecdotal cases of secondary hypophysitis associated with intracranial germinomas. There was a slight male preponderance (male:female 5:4). Two-thirds of the cases were below 18 years of age. Polyuria was the most common presenting manifestation (83%). CDI and panhypopituitarism were seen in 89 and 78% cases, respectively. Imaging evidence of pituitary stalk thickening was seen in 12 cases (67%), while pituitary enlargement and/or sellar mass were reported in 11 cases (61%). Pineal involvement was extremely rare, being reported in only 1 case, implying the predilection of suprasellar (rather than pineal) germinomas in causing secondary hypophysitis. Histologically, 82% had lymphocytic hypophysitis, while 18% had granulomatous hypophysitis. Initially, the diagnosis of germinoma was missed in 60% of the cases who were wrongly treated with corticosteroids. To conclude, physicians should make it a dictum that all children and adolescents presenting with CDI and pituitary stalk thickening should be rigorously screened for an underlying intracranial germinoma before labeling them as primary hypophysitis.
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PMID:Intracranial Germinoma Masquerading as Secondary Granulomatous Hypophysitis: A Case Report and Review of Literature. 3126 1