We suggest that ELUS and MRI must be evaluated within the framework of established parameters when treatment modalities such as preoperative radiation therapy and local or radical surgical approach must be decided.
Episodic angioedema with eosinophilia is characterized by recurrent angioedema, peripheral eosinophilia, fever, weight gain, elevated serum immunoglobulin M (IgM), and a benign course lacking any internal organ involvement. A non-episodic variant has also been reported which is limited to a single attack and normally is less severe than the episodic type. We report a case of Mycoplasma pneumoniae infection with dermatological manifestation that was followed by non-episodic angioedema with eosinophilia including fever, weight gain, and elevated serum IgM. Even though the patient's clinical characteristics resemble episodic angioedema with eosinophilia as reported by Gleich, angioedema was non-episodic. This may be due to systemic corticosteroid treatment which was prescribed because of persistent skin manifestation following M. pneumoniae infection. The current report is the first observation suggesting that angioedema associated with eosinophilia may be triggered by atypical bacterial infection.
We describe a patient with recurrent intestinal bleeding and sigmoid perforation due to amyloidosis. Hartmann's procedure was carried out with resection of the diseased sigmoid colon and by performing a terminal colostomy. The postoperative course was uneventful, but the patient died 3 months later of lobar pneumonia and multiple organ system failure.
Pericentric inversion of chromosome 4 can give rise to recombinant chromosomes by duplication or deletion of 4p. We report on a familial case of Wolf-Hirschhorn Syndrome characterized by GTG-banding karyotypes, FISH, and array CGH analysis, caused by a recombinant chromosome 4 with terminal 4p16.3 deletion and terminal 4q35.2 duplication. This is an aneusomy due to a recombination which occurred during the meiosis of heterozygote carrier of cryptic pericentric inversion. We also describe the adulthood and prenatal phenotypes associated with the recombinant chromosome 4.
The Pena Shokeir phenotype (PSP) is characterised by multiple ankyloses, camptodactyly, facial dysmorphisms and lung hypoplasia with hydramnios. The basic neuromuscular defect leads, through a fetal hypokinesia-akinesia, to the development of this nonspecific phenotype and a respiratory insufficiency with early postnatal mortality. Severe central nervous anomalies are described in one-third of the reported cases. In this paper a foetus with PSP and 4 further foetuses with severe cerebral malformations and only discrete lung hypoplasia are described. It is not clear whether the cerebral malformations represent a primary or secondary developmental defect.
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