Homozygous variants in MAPRE2 and CDON in individual with skin folds, growth delay, retinal coloboma, and pyloric stenosis.

Cases with multiple molecular diagnoses are challenging to diagnose clinically, yet may be resolved by unbiased exome sequencing analysis. We report an infant with developmental delay, severe growth delay, dysmorphic features, and multiple congenital anomalies including retinal coloboma, congenital pyloric stenosis, and circumferential skin creases. Exome sequencing identified a homozygous missense variant in MAPRE2 and a homozygous stopgain (nonsense) variant in CDON. Variants in MAPRE2, encoding a regulator of microtubule dynamics, lead to congenital symmetric circumferential skin creases type 2, with associated dysmorphism, small growth parameters, and congenital cardiac and genital anomalies. Monoallelic variants in CDON, encoding a coreceptor for sonic hedgehog, have been associated with autosomal dominant pituitary stalk interruption syndrome and holoprosencephaly. Cdon-/- mice have multiple eye defects including coloboma, consistent with the observed human phenotype. Thus, the complex phenotypic presentation of the infant may potentially be attributed to a dual molecular diagnosis. Furthermore, we present CDON as a candidate gene for coloboma formation in addition to the known holoprosencephaly phenotype, and propose to expand the allelic spectrum of CDON to variants associated with autosomal recessive inheritance in addition to dominant inheritance.

[Staged endoscopic balloon dilatation for cicatricial pyloric stenosis in children]. / Opyt poétapnoi éndoskopicheskoi ballonnoi dilatatsii pri rubtsovykh stenozakh privratnika u detei.

Secondary pyloric stenosis quickly leads to homeostatic and nutritional disorders that determines the importance of early diagnosis and surgical treatment. In two clinical cases, we have shown that staged endoscopic balloon dilatation of the pylorus is devoid of the most of the known problems and shortcomings of conventional surgery and makes it possible to restore effectively gastrointestinal passage and to improve child's quality of life. This procedure has a high diagnostic and curative value and is followed by positive dynamics of condition of the child with pyloric stenosis.

[Giant complicated duodenal ulcer in patient with diabetes mellitus]. / Gigantskaia oslozhnennaia duodenal'naia iazva u bol'noi sakharnym diabetom.

Treatment of complicated giant duodenal ulcers is one of the most difficult problems in abdominal surgery. Simultaneous course of diabetes mellitus and giant duodenal ulcer has clinical features and requires correction of the treatment. It is presented case report that may be useful regarding accumulation of knowledge about comorbid course of these pathologies. The patient 58-year old was urgently delivered with signs of gastrointestinal bleeding, ulcerative anamnesis for 15 years, diabetes mellitus type 2 for 8 years. Gastroduodenoscopy revealed chronic giant (2.5×3.5 cm) duodenal ulcer complicated by bleeding and subcompensated pyloric stenosis. Endoscopic hemostasis included drug injection and argon-plasma coagulation. Recurrent bleeding occurred after 22 hours. It was performed Billroth II procedure with resection of 2/3 of the stomach and manual formation of 'difficult' duodenal stump. Cicatricial ring was used as a frame for the stump. Postoperative period was uneventful, patient was discharged after 14 days. This clinical case demonstrates the need for more active surgical strategy in patients with diabetes mellitus and reliability of the proposed method of 'difficult' stump forming.

Diagnosis and treatment of gastric antral webs in pediatric patients.

BACKGROUND: Gastric antral webs are mucosal structures, varying from fenestrated diaphragms to mucosal crescents, resulting in varying degrees of foregut obstruction. Patients commonly present with vomiting, failure to thrive, and abdominal pain. Prevalence is unknown, and diagnosis can be difficult. METHODS: We performed an IRB-approved retrospective review of patients from 4/1/2015-4/1/2018 at a Level I Children's Surgery Center undergoing gastric antral web resection. Data obtained included demographics, preoperative workup, surgical repair, and outcomes. RESULTS: Twenty-one patients were identified; 67% were male with an average age of 30 months at diagnosis. Initial diagnosis was established by a combination of fluoroscopy and esophagogastroduodenoscopy (EGD) in all patients. Patients presented with emesis (76%), failure to thrive (57%), need for post-pyloric tube feeds (33%), and abdominal pain (14%). Web localization without intraoperative EGD (n = 3) was initially challenging. As a result, intraoperative EGD was combined with operative antral web resection to facilitate web localization (n = 18). Web marking techniques have evolved from marking with suture (n = 1) and tattoo (n = 2), to endoscopic clip application (n = 12). All 21 patients underwent web resection, 2 were performed laparoscopically. Twenty underwent Heineke-Mikulicz pyloroplasty during the initial surgery. Average length of stay was 5.5 days. There were no intraoperative complications or deaths. Permanent symptom resolution occurred in 90% of patients immediately, with a statistically significant decrease in emesis (p < 0.001), failure to thrive (p < 0.001), and need for post-pyloric tube feeding (p = 0.009) within 6 months of surgery. CONCLUSION: Gastric antral webs should be considered in the differential diagnosis for a child with persistent vomiting. Web resection with the use of intraoperative endoscopic localization can result in permanent symptom resolution in the majority of these patients.

Retrospective Cohort Study on the Optimal Timing of Orogastric Tube/Nasogastric Tube Insertion in Infants With Pyloric Stenosis.

BACKGROUND: Hypertrophic pyloric stenosis in infants can cause a buildup of gastric contents. Orogastric tubes (OGTs) or nasogastric tubes (NGTs) are often placed in patients with pyloric stenosis before surgical management to prevent aspiration. However, exacerbation of gastric losses may lead to electrolyte abnormalities that can delay surgery, and placement has been associated with increased risk of postoperative emesis. Currently, there are no evidence-based guidelines regarding OGT/NGT placement in these patients. This study examines whether OGT/NGT placement before arrival in the operating room was associated with a longer time to readiness for surgery as defined by normalization of electrolytes. Secondary outcomes included time from surgery to discharge and ability to tolerate feeds by 6 hours postoperatively in patients with and without early OGT/NGT placement. METHODS: In this multicenter retrospective cohort study, data were extracted from the medical records of 481 patients who underwent pyloromyotomy for infantile hypertrophic pyloric stenosis from March 2013 to June 2016. Multivariable linear regression and Cox proportional hazard models were constructed to evaluate the association between placement of an OGT/NGT at the time of admission with increased time to readiness for surgery (defined as the time from admission to the first set of normalized laboratory values) and increased time from surgery to discharge. Multivariable logistic regression was used to evaluate the association between early OGT/NGT placement and the ability to tolerate oral intake at 6 hours postsurgery. Analyses were adjusted for site differences. RESULTS: Among patients admitted with electrolyte abnormalities, those with an OGT/NGT placed on presentation required more time until their serum electrolytes were at acceptable levels for surgery by regression analysis (19.2 hours difference; 95% confidence interval, 10.05-28.41; P < .001), after adjusting for site. Overall, patients who had OGTs/NGTs placed before presentation in the operating room had a longer length of stay from surgery to discharge than those without (38.8 hours difference; 95% confidence interval, 25.35-52.31; P < .001), after adjusting for site. OGT/NGT placement before surgery was not associated with failure to tolerate oral intake within 6 hours of surgery after adjusting for site, corrected gestational age, and baseline serum electrolytes. CONCLUSIONS: OGT/NGT placement on admission for pyloric stenosis is associated with a longer time to electrolyte correction in infants with abnormal laboratory values on presentation and, subsequently, a longer time until they are ready for surgery. It is also associated with longer postoperative hospital stay but not an increased risk of feeding intolerance within 6 hours of surgical repair.

Utilidad de la determinación de cobre en periodo neonatal. Enfermedad de Menkes / Usefulness of Cu determination in the neonatal period. Menkes disease

Bajas concentraciones séricas de Cu en neonatos pueden ser la primera señal de una ingesta deficiente de este elemento o, alternativamente, de enfermedades genéticas que afectan su metabolismo. Desgraciadamente, es difícil la interpretación de las concentraciones de Cu en esta población, ya que están influenciadas por distintos factores, entre ellos la prematuridad, el tipo de alimentación y la presencia de un estado inflamatorio. Sin embargo, en el caso que aquí se describe fue la baja concentración sérica de Cu la primera pista para el diagnóstico de enfermedad de Menkes. Se demuestra así la utilidad de la determinación de Cu dentro de protocolos neurometabólicos y de retraso psicomotor en población neonatal y lactante (AU)

Low serum Cu concentrations in newborns can be the first indication of a severe Cu deficient intake or, alternatively, of genetic diseases affecting Cu metabolism. Unfortunately, interpretation of serum Cu concentrations in this population is difficult because they also influenced by several variables, such as, prematurity, type of feeding and inflammatory conditions. However, in the case described in this paper was a low serum Cu concentration the first clue for diagnosing Menkes disease. It is so demonstrated the usefulness of Cu determination within neurometabolic or psychomotor retardation protocols for newborn and infant populations (AU)

An unusual surgical cause of pyloric stenosis in an 8-month-old infant.

Infantile hypertrophic pyloric stenosis (IHPS) is the most common surgical cause of nonbilious, projectile vomiting in children. Its incidence is estimated to be 2-5/1000 live births and has been noted to be quite rare in African-Americans, Asians, and Indians. It is more common in infants under 6 months of age and is quite rare in older infants. While IHPS is invariably intrinsic in nature, extrinsic pyloric stenosis is very rare. Children who present with nonbilious, projectile vomiting after the age of 6 months should, therefore, be thoroughly investigated for causes other than IHPS. This is a case report of an 8-month-old child who had a band of tissue constricting the pylorus which mimicked IHPS.

Management of peptic pyloroduodenal stenosis in Sylvanus Olympio teaching hospital in Lome (Togo).

This study's aim was to describe the management of ulcerous pyloroduodenal stenosis in Sylvanus Olympio teaching hospital of Lomé (Togo). It was a retrospective study of medical files of all patients managed for peptic pyloroduodenal stenosis at the visceral surgery department of Sylvanus Olympio teaching hospital in Lomé (Togo) from january 1(st), 2002 to december 31(th), 2011. Twenty-five patients were selected. Mean age was 38 ± 7.4 years. Sex-ratio was 5. Twenty four patients underwent upper digestive tract endoscopy, completed by upper gastrointestinal series in 18 cases. One patient had only an upper gastrointestinal series. Pyloroduodenal stenosis was improved by antisecretory therapy in 3 cases. Twenty two patients underwent laparotomy. Truncal vagotomy was performed in 15 cases associated with pyloroplasty in 8 cases, and gastrojejunostomy in 7 cases. An antrectomy was performed in 5 cases. Selective vagotomy was associated with pyloroplasty in 1 case, and a gastrojejunostomy in 1 case. One patient died in postoperative period. Functional results were classified Visick I (17 cases) and II (4 cases). Peptic pyloroduodenal stenosis affects young adults. Its tight nature requires association of upper gastrointestinal series and esophagogastroduodenoscopy for diagnosis. Its surgical treatment is exclusively performed by laparotomy at present. Mortality is low and functionnal prognosis is good.