Giuseppe Segni

Maternal epilepsy and birth defects : a case-control study in the Italian Multicentric Registry of Birth Defects (IPIMC)

A case control study on the association between maternal epilepsy, anticonvulsants use during pregnancy and birth defects was carried out in the Italian Multicentric Registry of Birth Defects (IPIMC).In the period 1980–1983, 7,607 malformed babies out of 439,717 total births (still+live) were registered. Fourtyone malformed babies with maternal epilepsy were identified (5.39×1,000). The overall relative risk of having a malformed baby among pregnant epileptic women was 1.87.Spina Bifida, Congenital Heart Defects, Clefts, Diaphragmatic Hernia and Trisomy 18 were more frequent than expected among babies with maternal epilepsy.The different therapeutic regimens were also tested to identify the possible independent teratogenic effect of anticonvulsants. A statistically significant association between Spina Bifida and Valproic Acid (odds ratio 22.7; Fisher p value = 0.0364) was observed: no other anticonvulsant tested showed any association with any type of malformation.

Cardiac Structural Involvement in Mucopolysaccharidoses

Mucopolysaccharidoses (MPS) are lysosomal storage disorders due to impaired glycosaminoglycan degradation. Cardiac involvement is present in most patients with MPS although its clinical impact is still undetermined. Cardiovascular abnormalities were evaluated in 39 patients with MPS aged 4–22 years. Valvular lesions and different forms of cardiac involvement were detected. The most common lesion was thickening of the mitral valve with regurgitation or stenosis, regardless of the MPS type. Mitral valve thickening was observed in 23 patients, aortic valve thickening in 11 patients and congestive heart failure in only 1 patient with MPS III. The most severe changes were registered for MPS types I and II. Complete cardiological investigation should be routinely warranted in every patient inflicted with MPS.

Persistent Spontaneous Pneumothorax in an Adolescent with Marfan’s Syndrome and Pulmonary Bullous Dysplasia

A 16-year-old boy with Marfan’s syndrome was admitted with progressive dyspnea due to a large spontaneous pneumothorax. Bullous pulmonary dysplasia was confirmed and pleural tube drainage did not affect the air leak. Complete recovery required surgical resection of the bulla responsible for the ongoing air leak. This case report highlights the issue of management for severe spontaneous pneumothorax in general, showing that the choice of treatment should not depend on the presence of pulmonary bullous dysplasia but on the clinical evaluation of the individual patient.

Bladder Obstruction in Hunter's Syndrome

We report a case of bladder obstruction in a patient with Hunters syndrome, presenting with acute painful symptomatology, due to the impossibility of voiding, which was diagnosed with ultrasonography and cystometrography. Intermittent catheterization with intravesical oxybutynin chloride lead to successful functional resolution of the obstruction.