We evaluated immediate and long-term results of percutaneous transluminal angioplasty (PTA) and stent placement to treat stenotic and occluded arteries in patients with chronic mesenteric ischemia. Fourteen patients were treated by 3 exclusive celiac artery (CA) PTAs (2 stentings), 3 cases with both Superior Mesenteric Artery (SMA) and CA angioplasties, and 8 exclusive SMA angioplasties (3 stentings). Eleven patients had atheromatous stenoses with one case of an early onset atheroma in an HIV patient with antiphospholipid syndrome. The other etiologies of mesenteric arterial lesions were Takayashu arteritis (2 cases) and a postradiation stenoses (1 case). Technical success was achieved in all cases. Two major complications were observed: one hematoma and one false aneurysm occurring at the brachial puncture site (14.3%). An immediate clinical success was obtained in all patients. During a follow-up of 1-83 months (mean: 29 months), 11 patients were symptom free; 3 patients had recurrent pain; in one patient with inflammatory syndrome, pain relief was obtained with medical treatment; in 2 patients abdominal pain was due to restenosis 36 and 6 months after PTA, respectively. Restenosis was treated by PTA (postirradiation stenosis), and by surgical bypass (atheromatous stenosis). Percutaneous endovascular techniques are safe and accurate. They are an alternative to surgery in patients with chronic mesenteric ischemia due to short and proximal occlusive lesions of SMA and CA.

This case emphasizes the variable expressivity of the 2q14 microdeletion and reinforces the hypothesis that agenesis of corpus callosum, microcephaly, developmental delay, and distinctive craniofacial features may be part of the phenotypic spectrum characterizing the affected patients. We suggest that GLI2 is a dosage-sensitive gene that may be responsible for the agenesis of corpus callosum observed in the proband. Birth Defects Research (Part A) 106:793-797, 2016. © 2016 Wiley Periodicals, Inc.

The few cases of antiphospholipid syndrome that have been reported in neonates are believed to have resulted from a transplacental transfer of antiphospholipid antibodies. Here we report on a boy with a neonatal stroke revealing a de novo primary antiphospholipid, the mother being free of antiphospholipid antibodies. Other thrombosis risk factors included primiparity, gestational diabetes, macrosomia, polyglobulia, and lipoprotein(a) >30 mg/dL. Anti-cardiolipin and anti-β(2)-glycoprotein I persisted more than 2 years. Under aspirin therapy, the child did not exhibit recurrence of thrombotic events or symptoms of autoimmunity after a follow-up of 3 years. Our case indicates that clinicians should consider a second retesting for anticardiolipin antibodies and anti-β(2)-glycoprotein I antibodies, even when children and mother neonatal tests are negative.

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Prenatal diagnosis of hemimegalencephaly revealing tuberous sclerosis complexTuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant disorder, with lesions observed most frequently in the brain, kidneys and heart 1 . The lesions consist of hamartomas, benign tumors and, more rarely, malignant neoplasms. The four neuropathological hallmarks of TSC are subependymal nodules, cortical tubers, subependymal giant cell astrocytomas and white-matter abnormalities. The diagnostic criteria for TSC have been updated by Northrup and Krueger 2 and classified as major and minor features. Hemimegalencephaly (HME) is not included in these criteria. We report the case of a fetus diagnosed prenatally with HME associated with TSC.A woman was referred at 23 weeks of gestation due to fetal brain anomaly. Ultrasound examination revealed macrocephaly (biparietal diameter of 63.1 mm (97 th percentile) and head circumference of 239.2 mm (> 97 th percentile)), asymmetrical head shape, enlarged unilateral left cerebral hemisphere and abnormal operculization