Total absence of the small bowel in a premature neonate

We report here an interesting unique case of total loss of small bowel in the absence of associated malrotation or gastroschisis. Total loss of small bowel, acquired in utero in the absence of associated anomalies such as malrotation or gastroschisis, has not been previously reported. Several reports of congenital short bowel exist. However, this uncommon finding is typically associated with malrotation. Babies with this condition often present with functional intestinal obstruction. Several cases in which infarction of gastroschisis and autolysis of the bowel, followed by in utero resolution of the abdominal wall defect, have been reported as a cause of congenital absence of the small bowel. We present here the first report, to our knowledge, of an infant with total absence of the small bowel without gastroschisis or malrotation.     

Unusual cause of intestinal invagination: congenital polypoid-form gastric heterotopia. Study of a case and review of the literature

The authors report a case of polypoid heterotopic gastric mucosa in the ileum presenting as intussusception with hypochromic anemia in a 6 year-old boy. Tumorous heterotopic gastric mucosa in the small bowel is very uncommon. So far 22 similar cases have been published in the literature. This congenital intestinal anomaly is discovered in one third of the cases during the first decade. In 9 of 23 cases gastric heterotopia was diagnosed after an ileal resection for intussusception induced by the heterotopia presenting as a pedunculated or sessile polyp. In our case the great number of the polypoid formations is exceptional and has not been previously described.     

A local cluster of achalasia in a province of Crete

Achalasia has a largely obscure aetiology and is uncommon in childhood. We report three cases of otherwise well children, residents of a small province of Crete, two of them female cousins. This cluster probably indicates an autosomal recessive trait of inheritance. All three children were surgically treated (Heller cardiomyotomy combined with Nissen fundoplication), with excellent results.     

Pediatric button battery and small magnet coingestion: two cases with different outcomes

Ingestion of button batteries and ingestion of 2 or more small magnets have both been increasingly recognized as having high potential for injury. Coingestion of a button battery and a small magnet has only rarely been described but has the potential for both ischemic injury due to the tight magnetic adherence and the electric current injury from the button battery. We report 2 cases of button battery and small magnet coingestion; one required surgical repair of an important bowel injury, while the other had a benign course. We discuss the management and role of radiography in these cases and the potential factors to consider when predicting which patients will have serious injury and which will do well.     

Kenny-Caffey syndrome. Case report and literature review

Kenny-Caffey Syndrome is a rare syndrome characterized by growth retardation, uniformly small slender long bones with medullary stenosis, thickened cortex of the long bones, hypocalcemia possibly with tetany at an early age, hyperphosphatemia, ocular abnormalities, and normal intelligence. We report a child with Kenny-Caffey Syndrome and idiopathic hypoparathyroidism and present a review of the literature summarizing the reported cases of this rare syndrome.     

Utility of capsule endoscopy in pediatric gastroenterology

Wireless endoscopy is a new noninvasive diagnostic method that is able to visualize small bowel lesions. The instrument is small and carries a battery and microcamera that takes two photographs per second. It is indicated in cases of bleeding of unknown origin and for the diagnosis of inflammatory bowel disease, among other disorders. To date, it has mainly been used in adults. We believe that this instrument could play an important role in the pediatric age group since it is noninvasive and can be used to diagnose small bowel lesions, thus avoiding unnecessary diagnostic tests. We report the case of a girl with suspicion of Crohn's disease that was unconfirmed by conventional endoscopic techniques. The capsule showed small bowel lesions compatible with Crohn's disease. Corticosteroid treatment was initiated and the patient is now in clinical remission.     

Congenital Fatal Diarrhea in Newborns

Microvillus inclusion disease is a rare autosomal recessive disorder of intestinal epithelium causing intractable secretary diarrhea in the first two months of life and about 140 cases have been reported worldwide till now. Here authors report 2 cases of Microvillus inclusion disease (MVID) diagnosed in neonates by electron microscopy study of small intestinal biopsy.     

Ultrasonographic screening for renal abnormalities in three-year-old children

We report the results of ultrasonographic screening to determine the prevalence of renal abnormalities in children. This study was conducted simultaneously with a regular health check using portable realtime ultrasound equipment, from July 1988 to June 1989. Of 2920 three-year-old children resident in Kurume City, 2351 (80.5%) were screened. Abnormalities were detected in 11 (0.47%) of these, involving six cases of pelvic dilatation, three cases of unilateral renal agenesis, and two cases of a unilaterally small kidney. However, the simultaneous urinalysis of these 11 children did not disclose these abnormalities. Our results indicate that ultrasonography is an efficient tool for screening for a silent renal abnormality.     

Spontaneous intracranial hemorrhage and multiple intracranial aneurysms in a patient with Roberts/SC phocomelia syndrome

Roberts/SC phocomelia syndrome (RBS) is a rare but distinct genetic disorder with an autosomal recessive inheritance pattern. It has been associated with microcephaly, craniofacial malformation, cavernous hemangioma, encephalocele, and hydrocephalus. There are no previously reported cases of RBS with intracranial aneurysms. The authors report on a patient with a history of RBS who presented with a spontaneous posterior fossa hemorrhage. Multiple small intracranial aneurysms were noted on a preoperative CT angiogram. The patient underwent emergency craniotomy for evacuation of the hemorrhage. A postoperative angiogram confirmed the presence of multiple, distal small intracranial aneurysms.     

Unusual Presentation of Sand Aspiration in a 14-mo-Old Child

Accidental sand aspiration is an unusual but potentially life-threatening condition in children. Sand aspiration often occurs in cases of near drowning and accidental burial in sand. The authors report a case of accidental sand aspiration in a 14-mo-old girl while she was playing with sand. Though child was symptomatic and chest radiograph was showing obstructive emphysema initially, there was spontaneous resolution of radiographic findings and clinical condition within 48 h. Child was treated conservatively and was discharged. Follow up examination after 2 mo revealed persistent wheeze but no respiratory distress. Computed tomography (CT) of thorax was done which revealed a small sand particle measuring 0.2?×?0.4?×?0.3 cm in left main bronchus and was removed via rigid bronchoscopy. This report underscores the importance of performing bronchoscopy in all cases of suspected foreign body aspirations.     

A case of Wiskott-Aldrich syndrome with de novo mutation at exon 4

Wiskott-Aldrich syndrome (WAS) is an X-linked disorder characterized by thrombocytopenia, eczema and immunodeficiency. Clinical features of the disease are highly varied; therefore, the diagnosis is sometimes difficult, especially in solitary cases or cases with milder forms of the disease. However, the identification of the WASP gene has made possible a definite WAS diagnosis for these cases. In this report, we present a 26-month-old boy who had received several ineffective treatments for chronic immune thrombocytopenic purpura. He was then suspected to have WAS because of the early onset of thrombocytopenia and small platelets. The diagnosis became definite with the detection of a de novo mutation at exon 4 of the WASP gene, Arg138Pro, through mutation analysis.     

CD5-positive B-cell acute lymphoblastic leukemia.

CD5-positive B-cell acute lymphoblastic leukemia (ALL) is an exceedingly rare entity, with only a single case report in the literature. We report 2 additional cases of CD5-positive B-cell ALL in a 16-year-old male and a 15-year-old female. The 1st case was initially misdiagnosed as Ewing sarcoma due to a lack of CD45 expression and weak expression of CD99. Cytogenetic analysis of the 2nd case revealed trisomy 22, the 1st time this finding has been reported in ALL. Both patients had poor outcomes, as did the patient in the previously published case report. We conclude that CD5-positive B-cell ALL is a rare, aggressive malignancy with a poor prognosis that presents in adolescence. Pathologists and clinicians should be aware of this entity to avoid confusion with other small blue-cell tumors.     

Familial occurrence of the aniridia-Wilms tumor syndrome with deletion 11p13-14.1

A report of a family with two half-brothers and a maternal aunt affected with the aniridia-Wilms tumor syndrome is presented. The proband showed a deletion of most of band 11p13 and of subband 11p14.1 of one chromosome 11, and the proband's mother and an older brother, both phenotypically normal, showed a balanced chromosomal rearrangement. This family demonstrates that deletion of a small chromosome segment (11p13-14.1) is responsible for the aniridia-Wilms tumor syndrome and, that in some cases, the syndrome can be familial.     

Sickle cell disease with orbital infarction and epidural hematoma

Although bone infarction is a common feature in sickle cell disease, the involvement of the orbit is an unusual complication. Intracranial bleeding is another uncommon and serious complication. Few cases of orbital infarction alone have been reported. We report imaging findings (CT, bone scan, MRI) in a 16-year-old boy with sickle cell disease with orbital infarction and epidural hematoma. The precise cause of epidural hematoma is not well known, but it is probably related to vaso-occlusive episodes and the tearing of small vessels. Received: 22 May 2000 Accepted: 2 November 2000     

Congenital short-bowel and malrotation: clinical presentation and outcome of six affected offspring in three related families.

Newborns with congenital short small bowel associated with malrotation and intestinal dysmotility have a uniformly bad prognosis. However, few long-term survivors have been reported, suggesting that the disorder is not invariably fatal. The majority of cases previously reported were familial. We report on six affected siblings in three related families. The aim of this report is to assess the mode of inheritance, the expression of this disorder, and to point to the correlation between the onset of gastrointestinal symptoms and the outcome.     

Ectopic gastric mucosa in a polyp causing ileo-ileal intussusception: a case report of a three-month-old baby

Ectopic gastric mucosa in the small bowel not associated with Meckel's diverticulum, is rare. Most of the few cases found in the literature are symptomatic and complicated. We report a case of a three month-old baby, the youngest patient reported thus far. He had ectopic gastric mucosa in a polypoid lesion of the mid-ileum, which caused ileo-ileal intussusception.     

Portosystemic shunt as a bridge to liver transplantation in infants: A comparison of two techniques

Portosystemic shunts can serve as a bridge to liver transplantation in patients with end‐stage liver disease by providing portal decompression to treat life‐threatening variceal bleeding and prevent recurrent episodes until an organ becomes available. The conventional TIPS procedure, however, is technically challenging to perform in infants due to the small size of their intrahepatic vasculature. We report two cases of emergent creation of portosystemic shunts as a bridge to liver transplantation in infants with life‐threatening variceal bleeding using a conventional TIPS technique in the first case and a percutaneous DIPS technique in the other. Both procedures were successful at reducing the portosystemic pressure gradient and preventing further variceal bleeds until a liver transplant could be performed. The novel percutaneous DIPS procedure is a valuable alternative to the conventional TIPS in infants, as it is better suited for small or challenging intrahepatic vascular anatomy.