Malrotation Research Articles

Intestinal malrotation with solitary jejunal diverticulum presenting as midgut volvulus in an adult: an unusual presentation

Intestinal malrotation with midgut volvulus presenting in adults is a rare entity, and association with jejunal diverticulum is rarer still. Herein, we report and review such a case of malrotation and volvulus, associated with intestinal band adhesions and a solitary jejunal diverticulum. This 67 years old gentleman had presented with complaints of intermittent abdominal pain for past several years. Imaging of the abdomen revealed twisting of superior mesenteric artery and vein, evidence of midgut volvulus and intestinal malrotation with “whirlpool sign”. Laparotomy revealed a midgut volvulus, extensive adhesions involving the root of the mesentery and a jejunal diverticulum. Adhesiolysis was performed, untwisting of the bowel was done and the jejunal diverticulum was resected. Post-operative period was uneventful. This case is being reported on account of its extreme rarity.

Management of Chronic Myeloid Leukemia (CML) during Pregnancy Among Patients (pts) Treated with a Tyrosine Kinase Inhibitor (TKI): A Single-Center Experience

Background: Exposure to TKI has teratogenic effects in animal studies and humans. CML is being identified in younger patients who need to continue treatment for long periods of time, making management of CML during pregnancy an increasingly common medical issue, one for which there is very limited information.Methods: We reviewed the records of all CML pts treated and identified 42 pregnancies involving 34 patients (27 females and 7 males) who were either diagnosed with CML during pregnancy or were receiving TKI for CML at the time they became pregnant.Results: Thirteen women were diagnosed with CML during pregnancy. Of these, 4 had no complications; 8 had leukocytosis managed with short pulses of hydroxyurea (n=5), short-term interferon-alfa (n=1), leukapheresis (n=1) or observation (n=2). Pts were followed with weekly blood counts; PCR for BCR-ABL was checked at a median interval of 6 weeks (range, 4-8). These pregnancies resulted in healthy babies on term (n=12, including 2 twins), spontaneous miscarriages (n=2; at weeks 4 and 27 of gestation), and 1 elective abortion. One baby had 1 episode of seizure at birth attributed to delivery complications, later growing and developing normally. Within 1 month (mo) of delivery or abortion, all women started imatinib (n=2), dasatinib (n=6) or nilotinib (n=5). Best responses were MR4.5 (n=5) within 3-12 mos, and MMR (n=7) within 6-48 mos. One pt had no response to dasatinib and transformed to blast phase within 3 mo. Four of these women later conceived 5 other pregnancies during the course of their disease.Twenty-five patients (7 men and 18 women) conceived while on TKI, resulting in 29 pregnancies (20 unexpected and 9 planned). After a median time of exposure to TKI of 17 mos (range, 11-56), all male patients receiving nilotinib (n=5) or dasatinib (n=2) fathered healthy babies. Upon recognition of unplanned pregnancy, all female patients discontinued TKI immediately: dasatinib (n=9), imatinib (n=4), nilotinib (n=1), and bosutinib (n=1). At the time of pregnancy, all women had been receiving TKI for a median of 35.5 mos (range, 5-116). The median time of exposure to TKI from conception to discontinuation was 3 weeks (range, 2-6). Two women had miscarriages and 2 electively terminated pregnancies (including 1 therapeutic abortion for molar pregnancy following bosutinib). Of all 12 born babies, 2 had minor abnormalities (hypospadias and rotation of small intestine, respectively, both successfully surgically repaired). Two uncomplicated pregnancies are ongoing. At the time any pregnancy was recognized, clinical response was MR4.5 (n=6), MMR (n=6), CyR (1 major; 1 complete) and CHR (n=2). The median time pts stayed off-TKI was 10 mos (range, 7-21) and 6/15 women (40%) lost their responses during pregnancy. At the end of pregnancies, all women but 2 resumed TKI. At a median follow-up of 42 mos (range, 13-160), the 6 pts who lost responses have achieved MR4.5, MMR and CCyR (2 each).Of the 9 planned pregnancies (involving 5 women), all were receiving dasatinib and had undetectable BCR-ABL. All 5 pts stopped dasatinib prior to conception for a median of 4 mos (range, 1-20). During pregnancy, 2 pts had gradual increase in PCR that became undetectable 3-6 mos after resuming dasatinib post birth. All pts resumed therapy a median of 1 mo (range, 0.5-6) after delivery. Of the 5 women, 3 gave birth to healthy babies carried to term, 1 premature and 1 miscarriage.Conclusion: Conception among CML pts chronically exposed to TKI can lead to uncomplicated pregnancies. Although 40% of pts may lose response following treatment interruption, pts will typically regain response upon resuming therapy and rarely is therapy of any kind needed during pregnancy. Adequate contraception while on TKI and planning pregnancy while in deep molecular response with close monitoring remain the best advice. DisclosuresKantarjian:Amgen: Research Funding; Novartis: Research Funding; Bristol-Meyers Squibb: Research Funding; Pfizer: Research Funding; ARIAD: Research Funding; Delta-Fly Pharma: Research Funding. Pemmaraju:Novartis: Consultancy, Honoraria, Research Funding; Cellectis: Research Funding; Incyte: Consultancy, Honoraria; Stemline: Consultancy, Honoraria, Research Funding; LFB: Consultancy, Honoraria, Research Funding. Verstovsek:Astrazeneca: Research Funding; Galena BioPharma: Research Funding; Roche: Research Funding; Seattle Genetics: Research Funding; Celgene: Research Funding; Galena BioPharma: Research Funding; Genentech: Research Funding; Bristol Myers Squibb: Research Funding; NS Pharma: Research Funding; Gilead: Research Funding; Bristol Myers Squibb: Research Funding; Astrazeneca: Research Funding; Promedior: Research Funding; Incyte: Research Funding; Pfizer: Research Funding; Pfizer: Research Funding; Roche: Research Funding; CTI BioPharma Corp: Research Funding; Celgene: Research Funding; Blueprint Medicines Corp: Research Funding; Promedior: Research Funding; Gilead: Research Funding; CTI BioPharma Corp: Research Funding; Genentech: Research Funding; Blueprint Medicines Corp: Research Funding; NS Pharma: Research Funding; Lilly Oncology: Research Funding; Lilly Oncology: Research Funding; Seattle Genetics: Research Funding; Incyte: Research Funding. Jabbour:Bristol-Myers Squibb: Consultancy. Cortes:ARIAD: Consultancy, Research Funding; Teva: Research Funding; BMS: Consultancy, Research Funding; Novartis Pharmaceuticals Corporation: Consultancy, Research Funding; ImmunoGen: Consultancy, Research Funding; Pfizer: Consultancy, Research Funding; Sun Pharma: Research Funding.

Should all babies with oesophageal atresia have routine screening for midgut malrotation anomalies? A systematic review in search of evidence

Background/Purpose Oesophageal Atresia (OA) is associated with co-existent anomalies. There is a controversy of literature pertaining to the risk (s) of intestinal malrotation. In order to guide management we critically evaluate the incidence of IM anomalies in OA newborns.Design MEDLINE and EMBASE databases were searched using keywords “(O)Esophageal Atresia and Malrotation/Associated Abnormalities/Associated Anomalies”. Full texts of articles were screened if manuscripts exclusively reported patients with OA malrotation and/or associated anomalies. Larger case series (> 10patients) were included if abstract (s) showed that associated anomalies were systematically assessed. Full eligibility criteria required at least one case of malrotation in an OA index case. Data were collected on article type, number of patients and method (s) of diagnosis.Results 632 abstracts were screened of which 158 papers were analysed based on inclusion criteria-30 manuscripts documented the incidence (%) of malrotation. Incidence rate (s) were 0.5–13%. Malrotation was observed to have a higher incidence (10–44%) in OA babies with other gastrointestinal anomalies (VACTERL).Conclusion Newborns with OA appear to be at a higher risk (%) of having intestinal malrotation anomalies than healthy babies. Prospective studies are required to accurately quantify and define the ‘ true incidence ‘ of this association. Given the potential lethal consequences of midgut volvulus screening may be justified in OA babies. Consensus guidelines (DELPHI) exploring surgeons attitudes with regards management of ‘ asymptomatic malrotation ‘ disorders in OA newborns may further guide best practice.

Malrotation with Midgut Volvulus with Mesenteric Cyst - A Rare Association

Incomplete intestinal fixation or malrotation of gut with midgut volvulus is one of the important causes of bilious vomiting in neonates. The incidence of malrotation of gut in population is 4% [1]. Mesenteric and omental cysts are rare; the incidence is approximately 1 per 105,000 admissions to general hospitals and 1 per 20,000 admissions to pediatric hospitals. These cysts are reportedly more common in females than in males and in white persons than in nonwhite persons. The present case refers to a 2month old male child who presented with bilious vomiting and abdominal distention. After doing ultrasonography abdomen, the patient underwent exploratory laparotomy with Ladd’s procedure and excision of Mesenteric cyst.

Subhepatic appendix: an ectopic topography not to be disregarded: a case report

IntroductionSubhepatic appendix is most often due to an anomaly of rotation of the primary intestine occurring during embryogenesis. This ectopic topography associated with advanced age can be a serious diagnosis problem at the stage of appendicitis or appendicular peritonitis.Case presentationWe report the case of a 60-year-old melanoderm man, with a history of urinary pathology and peptic ulcer, referred from a health district for abdominal pain of the right hypochondrium evolving for about 5 days, secondarily generalized, in whom we suspected peritonitis, the etiology of which remains to be determined. During the surgical intervention, after preoperative resuscitations measures, a phlegmonous perforated appendix was found under the liver. No postoperative complication was noted, and he was discharged home 8 days after his operation.ConclusionSubhepatic appendicular peritonitis occurring in an elderly patient poses enormous diagnostic problems. When faced with right upper quadrant pain, considering acute ectopic appendicitis would significantly reduce complications.

Management and Outcomes of Malformations Associated with Intestinal Malrotations in Newborns: About 5 Cases

Bowel malrotation is an abnormality in the rotation of the primary intestinal loop during embryonic life. It is a severe abnormality exposing the patient to fatal complications. We report here a series of five patients presenting digestive malrotation with various malformative associations. The first three cases are multiple intestinal atresia on incomplete common mesentery. They underwent an intestinal anastomosis: end-lateral duodeno-ileal for one and end-to-end jejuno-jejunal for the other two with Ladd procedure. In the latter two cases, the omphalocele was the associated malformation; complications such as rupture of the omphalocele with intestinal perforation for one and occlusion by strangulation at the level of the neck for the other were recorded. Ileal resection removing the perforation with end-to-end ileo-ileal anastomosis was performed for the first, while reduction of strangulation at the origin of the occlusion was sufficient for the second. The LADD procedure was the complementary gesture in all cases. The outcome was favorable in 3 cases; two of the newborns who had jejunal atresia died, one on day 5 in a picture of acute respiratory distress, the other on day 6 in a picture of disseminated intravascular coagulation.

Concurrent intestinal malrotation and Meckel's diverticulum presenting as acute intestinal obstruction in an adult

Intestinal malrotation is the partial or complete failure of rotation of midgut around the superior mesenteric artery, while Meckel’s diverticulum is the remnant of vitellointestinal duct and concurrence of these congenital abnormalities in an adult is considered a rarity. Till date only 3 cases of concurrent intestinal malrotation and Meckel's diverticulum have been reported. We report a 18 years male who presented with a 3 day history of abdominal pain, bilious vomiting, obstipation and chronic abdominal pain on and off since 3 years of age. During the last episode which occurred 1 year back, he was diagnosed with intestinal malrotation with subacute intestinal obstruction and was treated conservatively. Examination revealed the presence of signs of peritonitis. After resuscitation, CECT abdomen was taken which showed dilated small bowel loops in the subhepatic region associated with malrotation. Emergency laparotomy revealed a Ladd's band below which the gangrenous small bowel loops 150 cm from the duodenojejunal (flexure until 5 cm proximal to the ileocecal junction) were found herniating into the subhepatic region with a Meckel’s diverticulum and a right sided DJ flexure. We proceeded with the band release and resection of gangrenous bowel followed by proximal jejunostomy with distal ileostomy. HPE was consistent with Meckel’s diverticulitis without any ectopic gastric or pancreatic mucosa. Ostomy reversal was done after 8 weeks. Patient had an uneventful postoperative recovery during both the admissions and he is on regular follow-up now.

A phase II study of chemoselection with docetaxel, cisplatin, and 5–fluorouracil as a strategy for organ preservation in patients with resectable esophageal cancer (CROC trial).

4027 Background: In patients with resectable esophageal squamous cell carcinoma (SCC), the outcomes of chemoradiotherapy (CRT) for good responders after three courses of induction chemotherapy (IC) with docetaxel, cisplatin, and 5–fluorouracil (DCF chemotherapy) were unclear. Methods: Patients with clinical stage IB–III (UICC 7th) resectable esophageal SCC were eligible. IC included docetaxel 75 mg/m2 on day 1, cisplatin 75 mg/m2 on day 1, and 5–fluorouracil 750 mg/m2 on days 1–5, repeated every 3 weeks for 3 cycles. The response was evaluated after 2 and 3 courses of IC. Patients were considered to have a “remarkable response (RR)” if an endoscopic examination with a central review showed shrinking of the primary lesion equivalent to T1 and the short axis of the metastatic lymph nodes were all < 1 cm on computed tomography—in other words, down staging to T1N0M0 stage IA. Patients were considered to have a “poor response (POR)” if they had progressive disease or no signs of reduction. Patients who did not achieve RR or POR were deemed to have “limited partial response (LPR)”. CRT was administered to patients who achieved RR, and surgery was performed in patients who achieved LPR or POR. CRT included cisplatin 75 mg/m2 on day 1 and 5–fluorouracil 1000 mg/m2 on days 1–4, repeated every 4 weeks for 2 cycles. Radiotherapy was administered as 50.4 Gy in 28 fractions. The primary endpoint was a 1–year progression free survival (PFS) for RR followed by CRT. Results: A total of 92 patients were enrolled. Two patients with non–SCC (n = 1) and distant metastasis (n = 1) were excluded. Therefore, 90 patients were included in the analysis group. Although 1 patient could not continue IC due to renal failure, the remaining 89 patients completed 3 courses of IC. The response after IC were RR in 58.4% (52/89), LPR in 41.6% (37/89), and POR in 0.0% (0/89). Three patients who achieved RR underwent surgery owing to renal dysfunction (n = 1), curative irradiation difficulty due to intestinal malrotation (n = 1), and CRT refusal (n = 1). Six patients who achieved LPR underwent CRT owing to surgery refusal (n = 3), unresectable tumors (n = 2), and respiratory dysfunction due to emphysema (n = 1). The complete response rate for RR followed by CRT was 89.8%. During the median follow–up period of 33 months (range: 1–85), the 1 and 3–years overall survival (OS) for the analysis group were 96.6% and 74.1%, respectively. The 1 and 3–years organ preservation survival for the analysis group were 56.8% and 45.3%, respectively. The 1 and 3–years OS for RR followed by CRT (n = 49) vs. LPR followed by surgery (n = 31) were 100% vs. 93.1% and 83.7% vs. 62.8%, respectively (p = 0.06). The 1 and 3–years PFS for RR followed by CRT were 89.8% and 70.0%, respectively. Conclusions: Three courses of DCF chemotherapy followed by CRT is an effective treatment for patients with resectable esophageal SCC who respond to the IC regimen. Clinical trial information: 8086.

Ischemic volvulus of the transverse colon caused by intestinal malrotation: A case report.

IntroductionCongenital Intestinal malrotation is a complex disorder caused by incomplete or abnormal rotation of the intestine during fetal development. Volvulus of the transverse colon secondary to intestinal malrotation is a rare cause of acute abdomen in adults. It has a high risk of mortality, hence the need for an urgent diagnosis and surgical intervention.Case reportWe report an unusual case of volvulus of the transverse colon caused by intestinal malrotation. A 21-year-old women presented abdominal pain with nausea and vomiting. On clinical examination, the abdomen was tympanic to percussion with peritoneal sensitivity. The abdominal X-ray revealed a massive obstruction of the distended large intestine with a “U-shaped” loop. He underwent an exploratory laparotomy that revealed the diagnosis of transverse colon volvulus with intestinal malrotation. His condition was treated surgically by transverse colectomy with colostomy. The patient died on the second day following a hemodynamic instability.ConclusionTransverse colonic volvulus is a rare entity with a high mortality, so it requires urgent diagnosis and surgical intervention.

Vólvulo de intestino medio: a propósito de dos casos.

Intestinal malrotation is defined as an alteration in the rotation and fixation of the intestine during the fetal stage. It can present with a wide clinical spectrum ranging from acute volvulus to chronic duodenal obstruction. Its clinical presentation is therefore also very varied, from asymptomatic patients in whom the diagnosis can be made as a finding, to extremely serious symptoms such as a midgut volvulus. Midgut volvulus is the most severe manifestation of this malformation spectrum, and its presentation without ischemia in asymptomatic patients is a rare formof presentation. The objective of this work is to present the clinical history of two patients with intestinal malrotation who presented a midgut volvulus in the neonatal period. In both cases, a Ladd procedure was performed, requiring in the first patient a extensive intestinal resection due to intestinal necrosis. Both had a good progress in the postoperative period.

440 Abdominal Heterotaxia: A More Nuanced Anatomy

Abstract Introduction The cardiac anomalies associated with left and right atrial appendage isomerism (LAAI and RAAI) are systematically described. However, for the associated abdominal abnormalities, only the laterality of the organs, cardinality of the spleen (asplenia or polysplenia) and the presence or absence of intestinal malrotation are noted. This study aimed to describe in greater detail the abdominal anatomy in abdominal heterotaxia. Method A detailed review of the imaging and clinical records of 23 patients (16 LAAI, 7 RAAI) with abdominal heterotaxia in a cardiac database was performed. Results In no patient was a complete description of abdominal anatomy possible, with all patients displaying unique anatomical presentations. There was a significant association between isomerism and splenic cardinality (12/16 LAAI had polysplenia and 6/7 RAAI had asplenia, p = 0.02). Right-sided stomachs were more commonly associated with gastro-oesophageal reflux (p = 0.048). The stomach and pylorus were ipsilateral in 15/20 patients, with marked variation in gastric orientation; these were novel observations. Ladd’s procedures were performed in 15/23 patients but terminology for intestinal malrotation was inconsistently used. Conclusions The heterotaxic anatomy demands better descriptions for scholarly reasons, but these may lead to a better understanding of upper intestinal dysfunction and the subsequent management of these patients.

355 Incomplete Intestinal Rotation with Appendicular Abscess Causing Diagnostic Dilemma in An Adult Patient

Abstract Intestinal malrotation presents as an emergency in the neonate and within the first year of life. Incomplete intestinal rotation may remain asymptomatic and undiagnosed. Adult patients are usually diagnosed incidentally while being investigated for nonspecific abdominal symptoms. We report a case of a 43-year-old female who presented with a 10-day history of paraumbilical abdominal pain. Computed tomography demonstrated features of incomplete intestinal rotation and a centrally located inflammatory mass related to the appendix. She underwent a laparotomy and appendectomy. Upon a brief literature review of similar cases, there seems to be a conflict of views regarding the management of incidentally diagnosed adult incomplete intestinal rotation.

CT facilitates improved diagnosis of adult intestinal malrotation: a 7-year retrospective study based on 332 cases

ObjectiveTo classify adult intestinal malrotation by CT.MethodsThis retrospective study enrolled adults diagnosed with intestinal malrotation who underwent abdominal CT at our institution between June 1, 2013, and August 30, 2020. All patients’ clinical information was recorded. Patients were divided into groups undergoing surgical and conservative management. The duodenum (nonrotation, partial rotation, and malrotation), jejunum, cecum, and the superior mesenteric artery/superior mesenteric vein relationship were reviewed on the CT images of each patient, and classification criteria developed based on the first three items. For each patient, each item was assessed separately by three radiologists. Consensus was required from at least two of them.ResultsA total of 332 eligible patients (218 men and 114 women; mean age 51.0 ± 15.3 years) were ultimately included and classified into ten types of malrotation. Duodenal partial rotation was present in most (73.2%, 243/332) with only 25% (83/332) demonstrating nonrotation. The jejunum was located in the right abdomen in 98.2% (326/332) of cases, and an ectopic cecum was found in only 12% (40/332, 29 cases with a left cecum, 7 pelvic, and 4 at midline). Asymptomatic patients comprised 56.6% (188/332) of cases, much higher than that in previous studies (17%, n = 82, p < .001), comprised mainly of patients with duodenal partial rotation (80.3%, 151/188). In 91 patients with detailed clinical data available (12 managed surgically and 79 conservatively), a significant difference in malrotation CT categorization was identified (p = .016).ConclusionsCT enables greater detection of asymptomatic intestinal malrotation, enabling classification into multiple potentially clinically relevant subtypes.

Rare case report of anorectal malformation and intestinal atresia.

IntroductionIntestinal malformations, such as intestinal atresia, malrotation, and anorectal malformation, are rare events, but concurrent intestinal atresia and anorectal malformation are rare in combination. These anomalies have similar in utero and perinatal symptoms, which can make the diagnosis of both defects prenatally challenging.Presentation of caseWe present a case of a male infant with a prenatal diagnosis of truncus arteriosus who on a 32-week routine prenatal ultrasound was suspected to have an intestinal malformation. On day of life one, the patient was taken to the operating room and found to have both type IIIa ileal atresia and anorectal malformation with normal bowel in between. A complete work up for vertebral defects, anorectal malformation, cardiac septal defects, esophageal atresia, renal anomalies, and radial limb defects (VACTERL) anomalies did not reveal additional anomalies.DiscussionIn this case, prenatal information supported intestinal obstruction, and the rare combination of both intestinal atresia and anorectal malformation proved surprising and interesting.ConclusionWe suggest providers be aware of the potential of multiple alimentary tract malformations to improve operative preparation and reduce the morbidity or mortality risk from repeat procedures when possible.

MED12-Related (Neuro)Developmental Disorders: A Question of Causality.

MED12 is a member of the Mediator complex that is involved in the regulation of transcription. Missense variants in MED12 cause FG syndrome, Lujan-Fryns syndrome, and Ohdo syndrome, as well as non-syndromic intellectual disability (ID) in hemizygous males. Recently, female patients with de novo missense variants and de novo protein truncating variants in MED12 were described, resulting in a clinical spectrum centered around ID and Hardikar syndrome without ID. The missense variants are found throughout MED12, whether they are inherited in hemizygous males or de novo in females. They can result in syndromic or nonsyndromic ID. The de novo nonsense variants resulting in Hardikar syndrome that is characterized by facial clefting, pigmentary retinopathy, biliary anomalies, and intestinal malrotation, are found more N-terminally, whereas the more C-terminally positioned variants are de novo protein truncating variants that cause a severe, syndromic phenotype consisting of ID, facial dysmorphism, short stature, skeletal abnormalities, feeding difficulties, and variable other abnormalities. This broad range of distinct phenotypes calls for a method to distinguish between pathogenic and non-pathogenic variants in MED12. We propose an isogenic iNeuron model to establish the unique gene expression patterns that are associated with the specific MED12 variants. The discovery of these patterns would help in future diagnostics and determine the causality of the MED12 variants.

Endosonography-guided gallbladder drainage in a patient with intestinal malrotation.

Endosonography-guided gallbladder drainage in a patient with intestinal malrotation.

Acute Midgut Volvulus in a Previously Healthy 9- Year Boy

Intestinal malrotation is an uncommon cause of bowel obstruction after the first month of life. Nevertheless, this abnormality can be diagnosed even at older ages. In this case, we present a 9-year-old, healthy, well-nourished boy who came in Emergency Department with intermittent cramping abdominal pain, associated with bilious vomiting. After clinical examination, plain AXR, and ultrasonography with no important findings, we performed doppler ultrasound screening of the abdominal vessels, in which abnormal orientation of superior mesenteric vessels was found. After that, contrast-enhanced CT scan was performed, which confirmed the diagnosis of intestinal malrotation, and revealed the Whirlpool Sign, confirming the diagnosis of midgut volvulus. He underwent laparotomy and Ladd´s procedure was done for him. We recommend investigation for the possibility of intestinal malrotation in all patients of non-specific abdominal pain regardless of age, even if there is no intestinal obstruction.

Ultrasound imaging as the first line of investigation to diagnose intestinal malrotation in children: Safety and efficacy

BackgroundUpper gastrointestinal contrast study is considered the gold standard investigation to diagnose intestinal malrotation and midgut volvulus which is potentially devastating condition. Ultrasound imaging is an alternative but has been considered unreliable due to significant false negative results. At our institution we have been using ultrasound imaging as the first line investigation to diagnose malrotation since 2008 with a preliminary study of 139 patients published in 2014. This is an ongoing audit of a further much larger cohort of patients to determine the efficacy and safety of ultrasound imaging in the diagnosis of intestinal malrotation. Materials and methodsFollowing ethics approval, a retrospective analysis of a prospectively collected patient database undergoing ultrasound scans to exclude malrotation at our centre was performed from 2012 to 2019. Results539 patients underwent ultrasound to assess for malrotation. The mean age of presentation was 365 days (median 30 days, mode 1 day). Malrotation was diagnosed in 17 with 5 having volvulus, with findings confirmed at surgery. 12 had equivocal findings and subsequent contrast studies ruled out malrotation. The remaining 510 patients with no evidence of malrotation were managed conservatively. ConclusionWe have shown ultrasound to be a safe and effective tool to assess intestinal malrotation without exposure to ionizing radiation. Level of evidenceLevel IV

Má rotação intestinal: um diagnóstico diferencial da doença do refluxo gastroesofágico

Neste relato iremos discorrer sobre um paciente de 7 anos de idade com diagnóstico de doença do refluxo gastroesofágico em tratamento desde os primeiros anos de vida. Apesar do tratamento clínico para a patologia, apresentava persistência de quadro de vômitos pós-alimentares precoces ocasionais, com necessidade de internação para compensação de distúrbios hidroeletrolíticos. Após ser encaminhado por um cirurgião, que suspeitou de necessidade de gastrofundoplicatura, o paciente procurou o serviço de urgência do Hospital Estadual Dirceu Arcoverde durante uma crise para ser avaliado pela Cirurgia Pediátrica. A hipótese de má rotação intestinal associada ou não a membrana duodenal foi prontamente aventada e investigada. Os exames de imagem corroboraram a suspeita e a cirurgia de Ladd foi realizada com sucesso. O relato foi elaborado através da análise de dados de prontuário de dois serviços médicos e fundamentado por pesquisa bibliográfica nas bases de dados Scielo e Pubmed. Nosso objetivo com este relato é trazer á memória um diagnóstico diferencial raro para uma sintomatologia compatível com patologia comum e salientar a importância do olhar de uma equipe multidisciplinar. Frente a um paciente com refluxo gastroesofágico, associado a déficit de crescimento e refratariedade no tratamento, diagnósticos diferenciais devem ser realizados e um deles é a má-rotação intestinal.

De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females

Hardikar syndrome (MIM 612726) is a rare multiple congenital anomaly syndrome characterized by facial clefting, pigmentary retinopathy, biliary anomalies, and intestinal malrotation, but with preserved cognition. Only four patients have been reported previously, and none had a molecular diagnosis. Our objective was to identify the genetic basis of Hardikar syndrome (HS) and expand the phenotypic spectrum of this disorder. We performed exome sequencing on two previously reported and five unpublished female patients with a clinical diagnosis of HS. X-chromosome inactivation (XCI) studies were also performed. We report clinical features of HS with previously undescribed phenotypes, including a fatal unprovoked intracranial hemorrhage at age 21. We additionally report the discovery of de novo pathogenic nonsense and frameshift variants in MED12 in these seven individuals and evidence of extremely skewed XCI in all patients with informative testing. Pathogenic missense variants in the X-chromosome gene MED12 have previously been associated with Opitz-Kaveggia syndrome, Lujan syndrome, Ohdo syndrome, and nonsyndromic intellectual disability, primarily in males. We propose a fifth, female-specific phenotype for MED12, and suggest that nonsense and frameshift loss-of-function MED12 variants in females cause HS. This expands the MED12-associated phenotype in females beyond intellectual disability.