Subtotal pyloric obstruction by atypical hypertrophic pyloric muscle in a newborn.

This is a case of a neonate with suspected duodenal atresia on prenatal imaging. However, distal bowel gas was identified postnatally on regular X-rays with a possible pyloric obstructing mass visualised on ultasound. No contrast was visualised passing through the stomach on fluoroscopic studies. Operative evaluation revealed an atypical asymmetric hypertrophic pylorus with exophytic lesions of ectopic glandular tissue. Longitudinal open pyloromyotomy was performed which relieved the gastric obstruction resulting in symptomatic relief without any anatomy altering procedure required.

Type II Congenital Pyloric Atresia with Desquamative Enteropathy Diagnosed Postoperatively: A Case Report.

Congenital pyloric atresia (CPA) is a rare condition that presents as gastric outlet obstruction in the first few weeks of life. Isolated CPA typically carries a good prognosis but when associated with other conditions such as multiple intestinal atresia or epidermolysis bullosa (EB), the outcomes are generally poor. This report describes a four-day-old infant who presented with nonbilious emesis and weight loss in whom an upper gastrointestinal contrast study revealed gastric outlet obstruction determined to be consistent with pyloric atresia. The patient underwent operative repair via Heineke-Mikulicz pyloroplasty. Postoperatively, the patient continued to have severe diarrhea and was found to have desquamative enteropathy though had no skin findings consistent with EB. This report emphasizes consideration of CPA as a differential diagnosis for neonates presenting with nonbilious emesis and demonstrates the association between CPA and desquamative enteropathy without EB.

Ethics Roundtable: How Much is Too Much?

How should the medical team approach care for a very preterm infant with a significant painful and life-limiting condition when the parents wish to pursue all life-sustaining therapies? Here, we discuss a case of an infant born at 28 weeks' gestation with a diagnosis of Carmi syndrome (junctional epidermolysis bullosa and pyloric atresia). While the medical team felt that a do-not-resuscitate order and redirection to comfort care were appropriate, the family held on to hope for recovery and wished to continue with full intensive care measures.

Novel compound heterozygous mutations in the PLEC gene in a neonate with epidermolysis bullosa simplex with pyloric atresia.

Epidermolysis bullosa (EB) is a heterogeneous group of inherited disorders characterized by the blistering of the skin and mucous membranes. Although the molecular basis of EB has been significantly elucidated, the precise phenotypes of the lethal types of EB have not been completely characterized. Herein, we report a severe case of EB with pyloric atresia (PA). The patient was a Japanese boy who not only had skin lesions but also various complications such as PA, dysphagia, hypotonia, infectious keratitis with corneal ulcer, obstructive uropathy and protein-losing enteropathy. Genetic analysis led to the identification of two novel compound heterozygous mutations in the last exon of the plectin (PLEC) gene. Based on this finding, EB simplex with PA was diagnosed. Immunostaining with anti-plectin antibodies revealed truncated plectin proteins lacking the C-terminus in the patient's skin. We also conducted a prenatal diagnosis in subsequent pregnancy. Our report further highlights the crucial role of plectin in many organs and provides valuable information regarding the phenotypes resulting from mutations in the PLEC gene.

Clinical heterogeneity in epidermolysis bullosa simplex with plectin (PLEC) mutations-A study of six unrelated families from India.

Epidermolysis bullosa simplex (EBS) with plectin mutations is a very rare subtype of EB usually associated with pyloric atresia (PA) or muscular dystrophy (MD). We report six unrelated children between ages 4 and 14 years from India with varied clinical manifestations. Only one had PA, and none has developed MD to date. All except the one with PA presented with early onset blistering along with laryngeal involvement in the form of hoarseness of voice and nail involvement. Patient with PA presented with aplasia cutis and died in the first week. Two patients had predominantly respiratory and gastrointestinal involvement with varying severity while two had features of myasthenic syndrome but no limb-girdle involvement and one patient phenocopied laryngo-onycho-cutaneous (LOC) syndrome. Using whole-exome sequencing, we identified novel mutations in PLEC. Histopathological analysis (Immunofluorescence antigen mapping) showed absence of staining to plectin antibodies. Our observations propose to append a phenotype of EBS, hoarseness of voice and nail dystrophy or LOC-like phenotype with plectin mutations. Long-term follow up is necessary to monitor for the development of muscular dystrophy.

Gastric Ectopic Pyloric Opening with Gastric Ulcer: A Rare Case.

The stomach temporarily stores food and secretes gastric juices to break down and digest food. The normal process is the movement of food digested from the stomach to the duodenum, with the pylorus as a passageway. This paper reports the case of a patient with an ectopic gastric pylorus who presented with gastrointestinal bleeding. A 62-year-old man complained of melena with mild dizziness and nausea. An endoscopic examination revealed a gastric ulcer, approximately 1 cm in diameter, and exposed blood vessels on the posterior wall of the upper body. No normal pyloric structure was observed in the distal antrum, and an opening leading to the duodenum was noted in the posterior wall of the upper body adjacent to the ulcer. This case presents a congenital pyloric ectopic opening in the upper body of the stomach, not in the distal antrum, suggesting a rare gastric morphological variation.

Laparoscopic Treatment of Type I of Pyloric Atresia: Case Report.

Objective: Pyloric atresia is one of the rarest surgical diseases in newborns. Laparotomy is the most common approach to correct this abnormality. In the modern scientific literature, there is only one report on the endosurgical treatment of pyloric atresia. The case of laparoscopic correction of gastric outlet atresia presented in this study is another reference to the successful treatment of this condition. Methods: The clinical case is presented by a newborn boy in whom a prenatal ultrasound (US) examination at 31 weeks of gestation revealed polyhydramnios and an enlarged stomach. The baby was born on 37th week of gestation, his birth weight was 2660 g. In the 1st hours of life, the child showed symptoms of high intestinal obstruction in the form of vomiting of gastric contents. Postnatal US and X-ray examination established the diagnosis of pyloric atresia. During laparoscopy, performed on the 2nd day of life, the morphological type of anomaly was assessed and type I atresia, represented by a membrane, was established. A laparoscopic membranectomy with Heineke-Mikulicz pyloroplasty was performed. The early and late results of the operation were investigated. Results: The duration of the operation was 70 minutes. The postoperative period was uneventful. Enteral nutrition was started on the postoperative day (POD) 3. A complete enteral diet became possible on day 7. The newborn was discharged from the hospital on the POD 9. Histological examination confirmed the diagnosis of membranous type of pyloric atresia. During follow-up for 12 months, no complications associated with the surgical procedure were found. Conclusion: Description of the case of laparoscopic treatment of type I pyloric atresia in a newborn expands the use of laparoscopy in pediatric practice.

Pyloric atresia and Down's syndrome: prenatal double bubble false sign. / Atresia pilórica y síndrome de Down: falso signo de la doble burbuja prenatal.

Pyloric atresia is a rare malformation, with an incidence of 1:100,000 live newborns. Male to female ratio is 1/1. Typically, it is an isolated malformation, with a good prognosis, but 20-40% of cases present epidermolysis bullosa, and to a lesser extent, multiple intestinal atresias. We present the case of a pre-term newborn prenatally diagnosed with polyhydramnios, duodenal atresia with "double bubble" sign, and suspected Down's syndrome, who eventually had pyloric atresia.

La atresia pilórica es una malformación rara, presenta una incidencia de 1:100.000 recién nacidos vivos y la ratio hombre/mujer es de 1/1. Generalmente es una malformación aislada, con buen pronóstico, pero entre el 20-40% de los casos se asocia a epidermólisis bullosa y en menor frecuencia a otras atresias intestinales múltiples. Presentamos un caso de recién nacido pretérmino con atresia pilórica con el diagnóstico prenatal de polihidramnios, atresia duodenal con signo de 'doble burbuja' y sospecha de síndrome de Down.

Laparoscopic-assisted Open Pyloroduodenostomy Repair of Pyloric Atresia in an Infant: A Rare Congenital Anomaly.

PURPOSE: Pyloric atresia is an uncommon congenital anomaly that may present with emesis and dehydration early in infancy. Definitive therapy consists of pyloroplasty or gastroduodenostomy depending on the subtype of atresia involved. CASE PRESENTATION: We report the case of a 2-day-old girl infant who presented with nonbilious emesis with feeds. Abdominal ultrasound and upper gastrointestinal series were performed and demonstrated a dilated, air-filled stomach with no distal air or passage of contrast. The patient was successfully treated by laparoscopic-assisted open pyloroduodenostomy of a type 2 pyloric atresia. CONCLUSION: Type 2 pyloric atresia is a rare clinical entity that can present with symptoms of gastric outlet obstruction. The patient described was treated by laparoscopic-assisted open pyloroduodenostomy, which has not been previously described for pyloric atresia. This work demonstrates an example of the safety and efficacy of laparoscopic surgery for infants with this anomaly.

Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings.

Pyloric atresia (PA) is a rare gastrointestinal anomaly that occurs either as an isolated lesion or in association with other congenital or hereditary anomalies. Familial occurrence of PA with epidermolysis bullosa (EB) has been well documented and variants in ITGA6, ITGB4, and PLEC are known to cause EB with PA. However, no gene variants have been defined in familial isolated PA. Five siblings with familial isolated PA are presented that suggest biallelic ITGB4 variants may underlie the development of PA without EB. Five siblings from two unrelated families with isolated PA were studied with exome sequencing (ES) to identify the genetic etiology in isolated familial cases. Exome sequencing was performed in one affected patient from each family. Validation and segregation studies were done by Sanger sequencing. Parents were first cousins in one family but there was no consanguinity in the other family. Type-2 PA was detected in both families and none of the probands had associated anomalies. All patients underwent successful gastroduodenostomy and have been under follow-up uneventfully. All patients had biallelic ITGB4 variants, c.2032G > T p.(Asp678Tyr) being a novel one. Biallelic ITGB4 variants may underlie the development of PA without associated EB. Further detection of variants in this gene may establish any possible genotype-phenotype correlations.

Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.

Congenital absence of skin (CAS) is a clinical sign associated with the main types of epidermolysis bullosa (EB). Very few studies have investigated the genetic background that may influence the occurrence of this condition. Our objective was to investigate genotype-phenotype correlations on EB with CAS through a literature revision on the pathogenic variants previously reported. A total of 171 cases (49 EB simplex, EBS; 23 junctional EB, JEB; and 99 dystrophic EB, DEB), associated with 132 pathogenic variants in eight genes, were included in the genotype-phenotype analysis. In EBS, CAS showed to be a recurrent clinical sign in EBS with pyloric atresia (PA) and EBS associated with kelch-like protein 24; CAS was also described in patients with keratins 5/14 alterations, particularly involving severe phenotypes. In JEB, this is a common clinical sign in JEB with PA associated with premature termination codon variants and/or amino acid substitutions located in the extracellular domain of integrin α6ß4 genes. In DEB with CAS, missense variants occurring close to non-collagenous interruptions of the triple-helix domain of collagen VII appear to influence this condition. This study is the largest review of patients with EB and CAS and expands the spectrum of known variants on this phenomenon.

Píloro doble. Presentación de un caso y revisión de la literatura / Double pylorus. Case report and literature review

RESUMEN El doble píloro es una comunicación anormal entre el antro gástrico y el bulbo duodenal y representa un raro hallazgo endoscópico. Se presentó un paciente de 80 años de edad, con antecedentes de hipertensión arterial, fumador inveterado, tomador de aspirina, que presentó melena aproximadamente 15 días antes del ingreso. La videoendoscopia reveló la existencia de dos orificios similares en el antro, que se comunicaban con el bulbo duodenal de manera independiente que fueron catalogados como píloros. La comunicación se constató con el paso del endoscopio a su través. Se impuso tratamiento médico con inhibidores de la bomba de protones y la evolución fue favorable. Es el cuarto caso reportado en la literatura en nuestro país y el primero en la provincia de Matanzas.

ABSTRACT Double pylorus is an abnormal communication between the gastric antrum and the duodenal bulb and represents a rare endoscopic finding. It is presented the case of a patient aged 80 years, with a background of arterial hypertension, inveterate smoker, taking aspirin, who presented melena about 15 days before the admission. The video-endoscopy revealed the existence of two similar orifices in the antrum that were independently communicating with the duodenal bulb and they went catalogued like pylori. The communication was proved by passing the endoscope through it. He was treated with IBP (the Spanish acronym for proton bomb inhibitors) and the evolution was favorable. It is the fourth case reported in the literature in Cuba and the first one in Matanzas.

Acquired double pylorus: An unusual complication of duodenal ulcer / Doble piloro adquirido: una complicación poco usual de úlcera duodenal

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Píloro doble. Presentación de un caso y revisión de la literatura / Double pylorus. Case report and literature review

RESUMEN El doble píloro es una comunicación anormal entre el antro gástrico y el bulbo duodenal y representa un raro hallazgo endoscópico. Se presentó un paciente de 80 años de edad, con antecedentes de hipertensión arterial, fumador inveterado, tomador de aspirina, que presentó melena aproximadamente 15 días antes del ingreso. La videoendoscopia reveló la existencia de dos orificios similares en el antro, que se comunicaban con el bulbo duodenal de manera independiente que fueron catalogados como píloros. La comunicación se constató con el paso del endoscopio a su través. Se impuso tratamiento médico con inhibidores de la bomba de protones y la evolución fue favorable. Es el cuarto caso reportado en la literatura en nuestro país y el primero en la provincia de Matanzas (AU).

ABSTRACT Double pylorus is an abnormal communication between the gastric antrum and the duodenal bulb and represents a rare endoscopic finding. It is presented the case of a patient aged 80 years, with a background of arterial hypertension, inveterate smoker, taking aspirin, who presented melena about 15 days before the admission. The video-endoscopy revealed the existence of two similar orifices in the antrum that were independently communicating with the duodenal bulb and they went catalogued like pylori. The communication was proved by passing the endoscope through it. He was treated with IBP (the Spanish acronym for proton bomb inhibitors) and the evolution was favorable. It is the fourth case reported in the literature in Cuba and the first one in Matanzas (AU).