Presacral neuroendocrine tumors associated with the Currarino syndrome.

Currarino syndrome (CS) is an autosomal dominant syndrome caused by mutations in MNX1 and characterized by anorectal abnormalities, partial sacral agenesis, and presacral masses. The presacral masses are typically benign; however, malignant degeneration can occur, and presacral neuroendocrine tumors (NETs) have been reported in six cases. We report three individuals from two families affected by CS in which multiple individuals developed presacral NETs. The first family, 491, had six members with features of CS, including two siblings who presented with presacral, Grade 2 NETs, one of which had metastasized to bone and lymph nodes. A germline c.874C>T (p.Arg292Trp) mutation was found in a highly conserved region of MNX1 in three affected members who underwent sequencing. A second somatic variant/deletion in MNX1 was not detected in either patient's tumor. In the second family, 342, the proband presented with an incidentally discovered presacral NET. The proband's father had previously undergone resection of a presacral NET, and so genetic testing was performed, which did not reveal an MNX1 mutation or copy number variants. The lack of a second, somatic mutation in the tumors from family 491 argues against MNX1 acting as a tumor suppressor, and the absence of a germline MNX1 mutation in family 342 suggests that other genetic and anatomic factors contribute to the development of presacral NETs. These cases highlight the variable presentation of CS, and the potential for malignancy in these patients.

Congenital Myenteric Hypoganglionosis.

Congenital myenteric hypoganglionosis is a rare developmental disorder characterized clinically by severe and persistent neonatal intestinal pseudoobstruction. The diagnosis is established by the prevalence of small myenteric ganglia composed of closely spaced ganglion cells with sparse surrounding neuropil. In practice, the diagnosis entails familiarity with the normal appearance of myenteric ganglia in young infants and the ability to confidently recognize significant deviations in ganglion size and morphology. We review clinical, histologic, and immunohistochemical findings from 12 patients with congenital myenteric hypoganglionosis in comparison with similar data from age-matched controls and clearly delineate the diagnostic features of the condition. Practical guidelines are provided to assist surgical pathologists, who are likely to encounter this condition only infrequently. The diagnosis typically requires full-thickness intestinal biopsy as the abnormality is confined to the myenteric plexus in many patients. Immunohistochemistry for Hu C/D may be used to confirm hypoganglionosis. Reduced staining for calretinin and NeuN implicates a selective deficiency of intrinsic primary afferent neurons in this disease.

Prevalence and Clinicopathologic Features of Intestinal Perforation Caused by Segmental Absence of the Intestinal Musculature in Adults.

Segmental absence of the intestinal musculature (SAIM) can cause intestinal perforation in adults. However, its prevalence and clinicopathologic features have not been well-described. This study aimed to determine the prevalence of SAIM-associated perforation and characterize its clinicopathologic features. We retrospectively examined 109 cases of intestinal perforation that underwent surgical resection from January 2009 to December 2019. SAIM was defined as the complete absence of the muscularis propria without extensive inflammation and fibrinous exudation around the perforation. SAIM was the second most frequent cause of perforation (26 cases: 24%), the most frequent cause being related to diverticulitis (39 cases: 36%). The most common site was the sigmoid colon (12 cases: 46.2%). The younger group (aged below 65 y) exhibited more frequent perforation of the upper segments of the gastrointestinal tract (from the duodenum to the descending colon) than the older group (65 y and above) (P=0.0018). No patients developed recurrence. The most common gross features were well-defined circular or small punched-out lesions, and the histologic features were complete absence of the muscularis propria and absence of hemorrhage and necrosis around the area of perforation. The characteristic features of SAIM were unique and their prevalence was higher than previously reported. The precise recognition of SAIM can aid in understanding the cause of perforation and avoiding further unnecessary examinations.

Congenital pelvic skeletal anomalies: Clinical and radiographic evaluation of newborns with gastrointestinal malformation.

BACKGROUND: Congenital pelvic skeletal anomalies (CPSA) may appear as isolated defects or in association with other anomalies like congenital malformations of the digestive system (CMDS). Minor CPSA in non-syndromic patients are often overlooked. We aimed to assess the frequency of CPSA in newborns with CMDS to review the diagnostic approaches. STUDY DESIGN: A retrospective review of medical records of 201 newborns who underwent X-rays for different neonatal indications was conducted. In 122 patients CMDS were diagnosed and classified according to the ICD-10 classification; 79 non-CMDS patients acted as controls. Pelvic skeletal segments were examined by X-rays. RESULTS: Patients with CMDS, showed a higher risk of CPSA (Odds ratio 2.89; 95% CI 1.34 6.23) and other associated malformations in comparison to non-CMDS patients. Newborns with malformations of the large intestine have the highest risk of adjacent CPSA (48%), as it is a developmental defect originating from the same somite. In addition to skeletal agenesis/hypoplasia, we reported dysmorphic and bifid vertebras, trident ileum, and elongated neural arches. CONCLUSIONS: The high incidence of CPSA in CMDS suggests performing a routine radiographic pelvic evaluation in cases of CMDS in order to identify complex phenotypes that could originate from the same developmental field.

Intestinal duplication in the tongue: embryological and radiological point of view.

Intestinal duplication in the tongue is a rare entity. Occurrence in the anterior part of the tongue is exceptional. We report an intestinal duplication in the tongue causing eating difficulties and discuss the accuracy of embryologic and histopathology knowledge as radiology. A transoral complete resection of the lesion was performed, without postoperative complications. There was no recurrence with a follow-up of 15 years.

Malignant neuroendocrine tumour in an adult female diagnosed with Currarino syndrome.

SUMMARY: Currarino syndrome is a rare, autosomal dominant condition of caudal anomalies, usually diagnosed in childhood. Adult presentation is rare and malignant transformation of the associated presacral mass even more so. We report a case of a 60-year-old female diagnosed with a malignant neuroendocrine tumour in the presacral mass in Currarino syndrome and describe the surgical management and pathological findings.

Traumatic perforation of a juxtapancreatic enteric duplication cyst: a paediatric emergency.

This report outlines a rare case of juxtapancreatic duplication cyst in a 5-month-old infant who presented with peritonitis, secondary to traumatic perforation of the cyst. We aim to highlight the role of selective mucosectomy in these cases.

Use of Electronic Noses for Diagnosis of Digestive and Respiratory Diseases through the Breath.

The increased occurrence of chronic diseases related to lifestyle or environmental conditions may have a detrimental effect on long-term health if not diagnosed and controlled in time. For this reason, it is important to develop new noninvasive early diagnosis equipment that allows improvement of the current diagnostic methods. This, in turn, has led to an exponential development of technology applied to the medical sector, such as the electronic nose. In addition, the appearance of this type of technology has allowed the possibility of studying diseases from another point of view, such as through breath analysis. This paper presents a bibliographic review of past and recent studies, selecting those investigations in which a patient population was studied with electronic nose technology, in order to identify potential applications of this technology in the detection of respiratory and digestive diseases through the analysis of volatile organic compounds present in the breath.

Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation.

BACKGROUND: Intestinal malrotation is a potentially life-threatening congenital anomaly due to the risk of developing midgut volvulus. The reported incidence is 0.2%-1% and both apparently hereditary and sporadic cases have been reported. Intestinal malrotation is associated with a few syndromes with known genotype but the genetic contribution in isolated intestinal malrotation has not yet been reported. Rare copy number variants (CNVs) have been implicated in many congenital anomalies, and hence we sought to investigate the potential contribution of rare CNVs in intestinal malrotation. METHODS: Analysis of array comparative genomic hybridization (aCGH) data from 47 patients with symptomatic intestinal malrotation was performed. RESULTS: We identified six rare CNVs in five patients. Five CNVs involved syndrome loci: 7q11.23 microduplication, 16p13.11 microduplication, 18q terminal deletion, HDAC8 (Cornelia de Lange syndrome type 5 and FOXF1) as well as one intragenic deletion in GALNT14, not previously implicated in human disease. CONCLUSION: In the present study, we identified rare CNVs contributing pathogenic or potentially pathogenic alleles in five patients with syndromic intestinal malrotation, suggesting that CNV screening is indicated in intestinal malrotation with associated malformations or neurological involvements. In addition, we identified intestinal malrotation in two known syndromes (Cornelia de Lange type 5 and 18q terminal deletion syndrome) that has not previously been associated with gastrointestinal malformations.

Carcinoid transformation of presacral dermoid cyst in patient with currarino syndrome: a case report.

Currarino syndrome (CS) is a congenital disorder characterized by partial sacral agenesis, anorectal malformation and a presacral mass. Only three cases of carcinoid transformation of the presacral mass have been described in the literature. We present a case of carcinoid transformation of presacral dermoid cyst in patient with Currarino syndrome.

Body composition and cognition in preschool-age children with congenital gastrointestinal anomalies.

BACKGROUND: Children with congenital gastrointestinal anomalies (CGIAs) experience multiple stressors while hospitalized in neonatal intensive care units during an essential time of growth and development. Early stress and inadequate nutrition are linked to altered growth patterns and later neurodevelopmental delays. In other at-risk populations, improved fat-free mass (FFM) accretion is associated with improved cognitive outcomes. OBJECTIVE: To determine if body composition is associated with cognitive function in preschool-age children with CGIAs. STUDY DESIGN: An observational study examined body composition and cognition in 34 preschool-age children with CGIAs. Anthropometric measurements and body composition testing via air displacement plethysmography were obtained. Measurements were compared with a reference group of healthy, term-born children. Cognition was measured with the NIH Toolbox Early Childhood Cognition Battery. Linear regression was used to test the association of body composition with cognitive function. RESULTS: Compared with the reference group, children with CGIAs had similar anthropometric measurements (weight, height, and body mass index z-scores) and body composition at preschool-age. Processing speed scores were lower than standardized means (p = 0.001). Increased FFM was associated with higher receptive vocabulary scores (p = 0.001), cognitive flexibility scores (p = 0.005), and general cognitive function scores (p = 0.05). CONCLUSIONS: At preschool-age, children with CGIAs have similar growth and body composition to their peers. In children with CGIAs, higher FFM was associated with higher cognitive scores. Closer tracking of body composition and interventions aimed at increasing FFM may improve long-term outcomes in this population.

Enteric duplication cyst as a cause for small bowel obstruction in adulthood.

We report a case of a patient presenting with small bowel obstruction secondary to an enteric ileal duplication cyst. Although common in infancy, they are rarely seen in adults. Radiologically they may be difficult to distinguish from a Meckel diverticulum and often the diagnosis is made retrospectively. Optimal management of the asymptomatic adult is unclear.