[An unusual case of severe arterial hypertension and acute renal failure in an obese young adult]. / Un inusuale caso di ipertensione arteriosa severa e insufficienza renale acuta in un soggetto obeso di età giovane-adulta.

We report a case of type-B aortic dissection occurring in a 38-year-old obese man, whose past medical history was positive for arterial hypertension and apparently negative for chronic kidney disease. The patient had severe refractory hypertension and acute renal insufficiency due to renal vascular impairment. The correct diagnosis was delayed because the clinical presentation was atypical, initially mimicking an acute abdominal inflammatory process (such as acute pyelonephritis) with secondary sepsis, and there was no major hemodynamic impairment. Percutaneous management (endografting of the thoracic aorta to seal the thoracic intima tear and renal revascularization by PTA+stenting) led to remission, albeit partial, of the acute renal insufficiency and to target blood pressure achievement with use of multiple antihypertensive agents. Follow-up at 12 months showed stable renal function, normal endograft placement and normal aortic diameter at CT examination. The percutaneous endovascular management of aortic dissection is a valid alternative to traditional surgery, with less morbidity and mortality; when the renal circulation is impaired by the aortic dissection, aortic endografting and renal revascularization by PTA+stenting, where appropriate, may allow at least partial reversal of renal insufficiency and target blood pressure achievement.

Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene.

X-linked isolated lissencephaly sequence (ILS) and subcortical band heterotopia are allelic human disorders associated with mutations of the DCX gene in both familial and sporadic forms. The authors describe a large Sardinian family in which three brothers with ILS have a missense mutation of the DCX gene. Their mother, a nonmosaic carrier, has a normal phenotype and cranial MRI. Skewed X-inactivation in the lymphocytes was also ruled out. This is the first report of an asymptomatic carrier of a DCX mutation likely due to apparent nonpenetrance.

Novel X-linked mental retardation syndrome with short stature maps to Xq24.

We describe a large family from Sardinia, Italy, in which a novel X- linked mental retardation (XLMR) syndrome segregates. The phenotype observed in the 8 affected males includes severe mental retardation (MR), lack of speech, coarse face, distinctive skeletal features with short stature, brachydactyly of fingers and toes, small downslanting palpebral fissures, large bulbous nose, hypoplastic ear lobe and macrostomia. Carrier females are not mentally retarded, although some of them have mild dysmorphic features such as minor ear lobe abnormalities, as well as language and learning problems. Linkage analysis for X-chromosome markers resulted in a maximum lod score of 3.61 with marker DXS1001 in Xq24. Recombination observed with flanking markers identified a region of 16 cM for further study. None of the other XLMR syndromes known to map in the same region shows the same composite phenotype. This evidence strongly suggests that the genetic disease in this family is unique.