Critical appraisal of the revised Ghent criteria for diagnosis of Marfan syndrome

Radonic T, de Witte P, Groenink M, de Bruin‐Bon RACM, Timmermans J, Scholte AJH, van den Berg MP, Baars MJH, van Tintelen JP, Kempers M, Zwinderman AH, Mulder BJM. Critical appraisal of the revised Ghent criteria for diagnosis of Marfan syndrome. Marfan syndrome (MFS) is a connective tissue disorder with major features in cardiovascular, ocular and skeletal systems. Recently, diagnostic criteria were revised where more weight was given to the aortic root dilatation. We applied the revised Marfan nosology in an established adult Marfan population to define practical repercussions of novel criteria for clinical practice and individual patients. Out of 180 MFS patients, in 91% (n = 164) the diagnosis of MFS remained. Out of 16 patients with rejected diagnosis, four patients were diagnosed as MASS (myopia, mitral valve prolapse, borderline non‐progressive aortic root dilatation, skeletal findings and striae) phenotype, three as ectopia lentis syndrome and in nine patients no alternative diagnosis was established. In 13 patients, the diagnosis was rejected because the Z‐score of the aortic root was <2, although the aortic diameter was larger than 40 mm in six of them. In three other patients, the diagnosis of MFS was rejected because dural ectasia was given less weight in the revised nosology. Following the revised Marfan nosology, the diagnosis of MFS was rejected in 9% of patients, mostly because of the absence of aortic root dilatation defined as Z‐score ≥2. Currently used Z‐scores seem to underestimate aortic root dilatation, especially in patients with large body surface area (BSA). We recommend re‐evaluation of criteria for aortic root involvement in adult patients with a suspected diagnosis of MFS.     

Bowel and mesenteric injury following blunt abdominal trauma: evaluation with CT

Computed tomography (CT) used in cases of blunt abdominal trauma has been found sensitive in detection of bowel and mesenteric injuries and discrimination of operable from nonoperable candidates. In 51 patients with suspected bowel or mesenteric injury following blunt abdominal trauma, CT correctly depicted bowel hematoma or mesenteric injury in 17 of 19 nonoperable patients (89%) and severe injuries in one patient who died preoperatively. In 26 of 28 patients who underwent therapeutic laparotomy (93%), initial CT enabled identification of surgically confirmed injuries. In two cases, initial scan misinterpretation delayed diagnosis of serious bowel injuries. The correct interpretation was rendered preoperatively and at blind retrospective review. CT findings that correlated with bowel or mesenteric injury requiring surgery were free peritoneal fluid (27 of 28, 96%), mesenteric infiltration (24 of 28, 86%), thick-walled bowel (17 of 28, 61%), associated abdominal injuries (12 of 28, 43%), and free air (nine of 28, 32%). In nonoperable cases, CT scans demonstrated bowel thickening (84%) but less frequently peritoneal fluid (21%), mesenteric infiltration (26%), or associated injuries (5%). In three of four patients who underwent nontherapeutic laparotomy, preoperative CT correctly imaged the limited abdominal injuries.     

Cutaneous lymphoblastic lymphoma with pre-B markers

Two children with cutaneous convoluted lymphoblastic lymphoma are reported. Malignant cells from both patients contained cytoplasmic Mu heavy chains characteristic of pre-B-cells and expressed CALLA and la antigens as well. Most cases of convoluted lymphoblastic lymphoma are T- cell-derived neoplasms. The non-T, non-B phenotype found in these two children demonstrates that histology does not necessarily predict immunophenotype. The association of the pre-B phenotype with cutaneous lymphoma has not been previously reported, but may represent a unique clinical-histopathologic-immunologic entity that occurs in young children.