𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Familial ileal perforation: prenatal diagnosis and postnatal follow-up

✍ Scribed by David Chitayat; Sorina Grisaru-Granovsky; Greg Ryan; Ants Toi; Robert Filler; Gareth R. Seaward; Jackie Siegel-Bartelt; Cheryl Cytrynbaum

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
102 KB
Volume
18
Category
Article
ISSN
0197-3851

No coin nor oath required. For personal study only.

✦ Synopsis

We report sibs (a brother and a sister) who presented prenatally with ultrasound findings of meconium peritonitis and postnatally were found to have perforation of the terminal ileum. The sister presented with fetal ultrasound findings of severe ascites and peritoneal calcifications. She had no prenatal intervention and was born at 38 weeks' gestation. Laparatomy revealed perforation of the terminal ileum with meconium peritonitis. Her post-surgical course was uncomplicated and at 30 months of age her growth and development are normal. Her brother presented prenatally with signs of meconium peritonitis including severe ascites and peritoneal calcifications. Prenatal aspiration of the ascitic fluid was performed and unlike his sister he was born prematurely, was operated on at 8 days, and developed bronchopulmonary dysplasia. He is currently 1 year old and has normal growth and development. The aetiology of the ileal perforation is not known. There were no findings suggesting connective tissue disorder and the aetiology of the intestinal perforation is not known. The occurrence of the same rare abnormality in sibs of different sexes points towards an autosomal recessive disorder.

πŸ“œ SIMILAR VOLUMES

Early-infantile galactosialidosis: Prena
Early-infantile galactosialidosis: Prenatal presentation and postnatal follow-up
✍ Patel, Millan S.; Callahan, John W.; Zhang, Sunqu; Chan, Alicia K.J.; Unger, She πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 68 KB πŸ‘ 2 views

Galactosialidosis (GS) is an autosomal recessive condition caused by combined deficiency of the lysosomal enzymes ␀-galactosidase and ␣-neuraminidase. The combined deficiency has been found to result from a defect in protective protein/cathepsin A (PPCA), an intralysosomal protein which protects the

Cervical teratoma: prenatal diagnosis an
Cervical teratoma: prenatal diagnosis and long-term follow-up
✍ Berit Kerner; Eugene Flaum; Holli Mathews; Dru E. Carlson; Samuel H. Pepkowitz; πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 168 KB πŸ‘ 1 views

Cervical teratomas are rare tumours which are the result of abnormal prenatal development. They are usually detected at birth, but can occasionally remain silent until adulthood. Obstruction of the airway is the major challenge in the neonatal period. Prenatal diagnosis allows for early consultation

Early diagnosis, follow-up, and prenatal
Early diagnosis, follow-up, and prenatal treatment of a case of TRAP sequence occurring in a dichorionic triamniotic triplet pregnancy
✍ Paolo Cavoretto; Audrey Serafini; Luca Valsecchi; Mariano Lanna; Maria Angela Ru πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 169 KB

## Abstract We are reporting a case of twin reversed arterial perfusion (TRAP) sequence occurring in a dichorionic triamniotic triplet pregnancy with successful percutaneous prenatal treatment and excellent neonatal outcome. TRAP sequence was diagnosed at 11 weeks in a spontaneous dichorionic‐triam

A novel mutation in the SDHD gene in a f
A novel mutation in the SDHD gene in a family with inherited paragangliomasβ€”implications of genetic diagnosis for follow up and treatment
✍ Laurette Renard; Catherine Godfraind; Laurence M. Boon; Miikka Vikkula πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 188 KB

## Abstract ## Background. Early detection of paragangliomas (PGs) has been linked to low morbidity after surgical resection. Recent identification of causative genes (__SDHB, SDHC,__ and __SDHD__) has made it possible to detect individuals at high risk for tumors. ## Methods. We identified a th