Neonatal ovarian cyst associated with intestinal obstruction

Cystic and solid tumors of the ovary are rare during the newborn period and infancy. We present the case of a term female infant born to a mother with 24 years of age and found to have a cystic abdominal mass through prenatal sonographic evaluation in the third trimester. The cyst was also demonstrated by postnatal abdominal ultrasonography. Because of the clinical and radiological findings of intestinal obstruction, laparatomy was performed at the age of three days and a cyst of 10 ′ 8 ′ 8 cm was found in the right ovary. Pathological examination of cyst revealed a teach-luthein cyst.     

Neonatal intestinal obstruction associated with oral calcium supplementation

ABSTRACT. A case report of a 920 g infant developing a small intestinal obstruction following therapy for congestive cardiac failure is presented. Although the causation was thought to be milk curd obstruction, subsequent analysis revealed high concentration of calcium and phosphate in the stools.
The possible pathogenesis is discussed in relation to the inspissated milk syndrome.     

Mosaicism in cutaneous pigmentation

PURPOSE OF REVIEW: This article reviews the disorders of patterned dyspigmentation and discusses the pathogenesis of the pigmentary changes. RECENT FINDINGS: A range of cytogenetic abnormalities has been detected in patterned pigmentary disease. This molecular heterogeneity correlates with the wide spectrum of clinical phenotypes observed. Many of the molecular defects overlap with genes known to play a role in pigmentation. Our understanding of the underlying genetic mechanisms for these mosaic conditions is evolving with advances in technology and dissection of the molecular pathways involved in melanocyte biology. SUMMARY: The causal heterogeneity of patterned dyspigmentation promises to reveal clues about the differentiation, function, and control of melanocytes in embryonic and postnatal development.     

Disaccharidase activities and intestinal absorption in infants with congenital intestinal obstruction

The results of studies on disaccharidase activities and on intestinal absorption in cases of complete and incomplete congenital small bowel obstruction are presented. Assays of the activities of maltase, isomaltase, sucrase, trehalase, and lactase have been performed on biopsy specimens taken at the time of surgery. In specimens taken from above the site of obstruction, the activities are reduced for all disaccharidases, and are particularly low for trehalase and lactase. There was no difference between the cases with complete and incomplete obstruction. Distal to a complete obstruction, trehalase and lactase were reduced, whereas in cases of incomplete obstruction, the activities of all disaccharidases were within what is considered normal in the reference material. Two months after surgery, the disaccharidase activities were found to be normal. One month after surgery, the absorption of glucose and vitamin A was markedly impaired in cases with complete obstruction, whereas that of D-xylose was not significantly reduced from normal. In cases with incomplete obstruction, the results did not differ from those found in normal infants. The fact that failure to thrive is common during the first months after birth in patients with congenital intestinal atresia, even when surgery is successful, may be explained by deficient intestinal absorption, particularly in patients with complete obstruction.     

Ellis–van Creveld syndrome associated with chronic intestinal pseudo‐obstruction

Ellis–van Creveld (EVC) syndrome is a rare autosomal recessive disorder characterized by hypoplastic nails, polydactyly, and achondroplasia. Patients usually exhibit normal cognitive function and no remarkable developmental delay. We herein present an unusual case of EVC syndrome. A Japanese 2‐year‐old boy was born at term, but immediately developed severe respiratory failure due to thorax deformity, postaxial polydactyly and nail hypoplasia. We identified a novel pattern of germinal compound heterozygous nonsense EVC2 mutations of c.1814C > A (p. S605X) and c.2653C > T (p. R885X), leading to the diagnosis of EVC syndrome. Interestingly, he also had severe developmental delay, and suddenly developed excessive abdominal distension at the age of 2. On surgery, extensive necrotic bowel with chronic intestinal pseudo‐obstruction was noted. This is, to our knowledge, a most severe phenotype of EVC syndrome, illustrating that the specific pattern of EVC2 compound heterozygous mutations may cause severe developmental delay and intestinal malfunction.     

Acute intestinal obstruction

Nine hundred and four children with intestinal obstruction were studied. Necrotising enteritis was the commonest cause of intestinal obstruction in children. Acute intussusception was the second commonest cause in the whole group and the commonest cause in children under 1 year of age. Less common causes included band obstruction, sub acute intestinal obstruction and remnants of vitello-intestinal duct. A steady and significant improvement in the results of treatment was noted in children suffering from necrotising enteritis in the study period.     

Neonatal intestinal obstruction from solitary intestinal fibromatosis

 Solitary intestinal fibromatosis (SIF) is a very rare condition, with only 13 cases reported. We present a new case of SIF causing neonatal intestinal obstruction and review the literature on this condition. SIF appears to be a condition of infancy and carries a very good prognosis after segmental resection. Accepted: 20 March 2000     

Incarcerated diaphragmatic hernia with gangrene and intestinal obstruction

A case of diaphragmatic hernia complicated by incarceration, gangrene, and intestinal obstruction in a 10-year-old boy is reported. Separate abdominal and thoracic incisions were required to reduce the hernia and a major bowel resection was necessary.