Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0032285 (pneumonia)
 54,520 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Leprechaunism is a very rare condition of obscure aetiology. At the age of three weeks the neonate described in this report lost all subcutaneous fat in spite of additional parenteral nutrition. He acquired purulent pneumonia, and finally died of septicaemia. The typical stigmata were a prominent nose, broad mouth with putty lips, and large, hypertrophic , backwards rotated ears, cutis laxa, atrophy of adipose tissue and gynaecomastia with hirsutism. Since the first report (1948), 32 patients have been described in detail. Compared with these reports of dysendocrinism we observed an excessive proliferation of various tissues, e.g. of the epithelia of the epidermis, bronchi, collecting tubules of kidneys, bile-ducts, and pancreatic ducts. Moreover, almost complete atrophy of lymphoid tissue was remarkable.
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PMID:[Leprechaunism (Donohue's syndrome). Clinical and pathologico-anatomical findings]. 672

We describe the case of a 7-year-old girl with an apparently new genetic disorder characterized by oculocutaneous albinism, microcephaly, low-set helices, a prominent nose with a broad bridge, a long philtrum, a thin upper lip, a short neck, brachydactyly of the hands and syndactyly between the second and third toes of both feet, thrombocytopenia, and granulocytopenia. In addition, she had extremely low amounts of natural killer cells that were phenotypically normal but lacking cytotoxic activities. Clinically this defect was associated with recurrent and severe respirator-dependent pneumonia of viral and bacterial origin. We assume that the girl presented here represents a similar but distinct entity to the previously described syndromes involving oculocutaneous albinism.
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PMID:Oculocutaneous albinism accompanied by minor morphologic stigmata and reduced number and function of NK cells. A new variant of NK cell defect? 1855 15