Publications (2)10.38 Total impact
- [Show abstract] [Hide abstract]
ABSTRACT: To retrospectively evaluate the technical success, safety, and outcomes of radiologically guided retrograde percutaneous gastrostomy and gastrojejunostomy tube placements in terms of weight gain and growth in children with gastroschisis, omphalocele, and/or congenital diaphragmatic hernia (CDH). Research ethics board approval, with waived informed patient consent, was obtained for review of the data of 37 children (17 male, 20 female; age range, 1-20 months; mean age, 4.3 months) in whom gastrostomy or gastrojejunostomy tubes were inserted between 1995 and 2004. Twenty-two patients had CDH, eight had gastroschisis, five had omphalocele, and two had both CDH and omphalocele. The technical success and complications of the procedures were recorded. Tube maintenance problems were analyzed separately from postprocedural complications. Initial and final patient growth percentiles were compared by using a one-sided paired Student t test. Thirty-six of the 38 procedures performed in the 37 patients were successful. There were three intraprocedural complications (two cases of access difficulty, one case of bleeding) and three major complications (one skin and prosthetic material infection, one track loss during tube replacement, one delayed gastrostomy track closure necessitating surgery). Sixteen patients had at least one minor complication (cellulitis, feeding intolerance, skin-site bleeding, intussusception). Twenty-two patients had at least one tube maintenance problem. All patients gained weight (mean weight gain, 4.7 kg) after the procedure, with a significant increase in growth percentile (average increase, 6.5%; P = .029). Radiologically guided percutaneous gastrostomy and gastrojejunostomy tube placements in children with gastroschisis, omphalocele, and/or CDH are associated with high success rates and low major complication rates. Although tube maintenance problems and minor complications are common, use of gastrostomy and gastrojejunostomy tubes effectively improves nutritional support.
- [Show abstract] [Hide abstract]
ABSTRACT: Cardio-facio-cutaneous syndrome (CFC) is a multiple congenital anomaly disorder characterized by craniofacial dysmorphia, ectodermal abnormalities, congenital heart defects, and developmental and growth delay. Neurological complications associated with CFC remain to be clearly defined. Recent discovery of causative mutations in genes of the MAPK pathway (BRAF, MEK1, and MEK2) now permit accurate molecular diagnosis of CFC. The aim of the study was to characterize neurological features of participants with molecularly-confirmed CFC. Medical records, and laboratory and imaging data were reviewed for 39 mutation-positive individuals with CFC. Participants with a clinical diagnosis of CFC but a negative result on mutation screening of the BRAF, MEK1, and MEK2 genes were excluded from the study. Mean age of participants was 9 years 4 months (range 18 mo-24 y); there were 24 females and 15 males. Mutations in B RA F were present in 32 participants, MEK1 in five, and MEK2 in two participants. Hypotonia, motor delay, speech delay, and learning disability were universally present in this cohort. Macrocephaly was present in 13 participants, ptosis in 11, strabismus in 14, and nystagmus in 11 of the 22 participants who underwent a neurological exam. Corticospinal tract findings were present in seven participants. Ventriculomegaly or hydrocephalus was present in 14 of 32 participants who underwent brain imaging. Other findings on magnetic resonance imaging included prominent Virchow-Robin spaces (n=6), abnormal myelination (n=4), and structural anomalies (n=5). Seizures were present in 15 participants. No specific genotype-phenotype correlation was observed.
SickKidsToronto, Ontario, Canada
University of California, San Francisco
San Francisco, CA, United States
- Division of Medical Genetics