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International Journal of Surgery Case... Jun 2024Beckwith-Wiedemann syndrome (BWS) manifests distinctive features, such as macroglossia, overgrowth, and abdominal wall defects. In this report, we describe a case of BWS...
INTRODUCTION
Beckwith-Wiedemann syndrome (BWS) manifests distinctive features, such as macroglossia, overgrowth, and abdominal wall defects. In this report, we describe a case of BWS in an extremely low birth weight infant diagnosed at three months after birth because of the intensive care for low birth weight.
PRESENTATION OF CASE
A female infant was delivered at 24 weeks and 6 days of gestation with a weight of 845 g. After birth, significant small intestinal intra-umbilical prolapse was observed, and abdominal wall closure using a sutureless method was performed on day zero. Careful neonatal management was performed; however, an episode of bloody stools led to a diagnosis of intestinal volvulus due to intestinal malrotation. At 119 days of age, the Ladd procedure was performed. Notably, during anaesthesia induction, features suggestive of BWS were observed, leading to its diagnosis.
DISCUSSION
Early diagnosis of BWS is vital because of its association with tumors. However, because she was an extremely low birth weight infant who required oral intubation and supine management for respiratory control, nevus flammeus and macroglossia were not observed. Therefore, BWS was not diagnosed for approximately three months after birth. It is important to recognize that omphalocele in extremely low birth weight infants is a risk factor for delayed diagnosis of BWS.
CONCLUSION
Timely diagnosis of BWS is critical because of its association with tumors and varied clinical presentations. Early screening, especially for tumors, and awareness among surgical practitioners can aid in timely interventions and improved patient outcomes.
PubMed: 38781840
DOI: 10.1016/j.ijscr.2024.109777 -
Pediatrics International : Official... 2024
Topics: Humans; Intestinal Volvulus; Rubinstein-Taybi Syndrome; Ileal Diseases; Male; Cecal Diseases; Female
PubMed: 38780194
DOI: 10.1111/ped.15762 -
BMC Pediatrics May 2024Acute complete gastric volvulus is a rare and life-threatening disease, which is prone to gastric wall ischemia, perforation, and necrosis. If it is not treated by...
BACKGROUND
Acute complete gastric volvulus is a rare and life-threatening disease, which is prone to gastric wall ischemia, perforation, and necrosis. If it is not treated by surgery in time, the mortality rate can range from 30 to 50%. Clinical presentations of acute gastric volvulus are atypical and often mimic other abdominal conditions such as gastritis, gastroesophageal reflux, gastric dilation, and pancreatitis. Imaging studies are crucial for diagnosis, with barium meal fluoroscopy being the primary modality for diagnosing gastric volvulus. Cases of acute gastric volvulus diagnosed by ultrasound are rarely reported.
CASE PRESENTATION
We reported a rare case of acute gastric volvulus in a 4-year-old Chinese girl who presented with vomiting and abdominal pain. Ultrasound examination revealed the "whirlpool sign" in the cardia region, raising suspicion of gastric volvulus. Diagnosis was confirmed by X-ray barium meal fluoroscopy, which indicated left-sided diaphragmatic hernia and obstruction at the cardia region. Surgical intervention confirmed our suspicion of acute complete gastric volvulus combined with diaphragmatic hernia.
CONCLUSION
In this case, we reported an instance of acute complete gastric volvulus. Ultrasound revealed a "whirlpool sign" in the cardia, which is likely to be a key sign for the diagnosis of complete gastric volvulus.
Topics: Humans; Stomach Volvulus; Female; Child, Preschool; Acute Disease; Hernias, Diaphragmatic, Congenital; Ultrasonography; Fluoroscopy
PubMed: 38769486
DOI: 10.1186/s12887-024-04834-8 -
Revista Espanola de Enfermedades... May 2024Intestinal malrotation is the most common congenital anomaly of the small intestine. However, it is associated with delayed diagnosis due to the lack of specificity of...
Intestinal malrotation is the most common congenital anomaly of the small intestine. However, it is associated with delayed diagnosis due to the lack of specificity of its symptoms, which can lead to devastating consequences such as intestinal volvulus or massive intestinal necrosis. We present a clinical case in which we highlight the importance of abdominal computed tomography and the detection of its characteristic signs for the early identification of this pathology.
PubMed: 38767014
DOI: 10.17235/reed.2024.10391/2024 -
Gynecologic Oncology Reports Jun 2024Cecal volvulus is a rare and life-threatening cause of intestinal obstruction with multiple risk factors including prior abdominal surgery and cecal hypermobility....
Cecal volvulus is a rare and life-threatening cause of intestinal obstruction with multiple risk factors including prior abdominal surgery and cecal hypermobility. Although its incidence has been reported after common procedures such as cholecystectomy and appendectomy, it has not been well studied after laparoscopy, especially in gynecological surgeries. If untreated, a cecal volvulus can result in serious complications such as intestinal strangulation, necrosis, or perforation. Therefore, early identification of risk factors and intervention is important in prevention of these sequelae. Here, we report a case of cecal volvulus in a patient with endometrial carcinoma after a staging robotic-assisted laparoscopic hysterectomy and the risk factors that may have led to her complication.
PubMed: 38765696
DOI: 10.1016/j.gore.2024.101404 -
Cureus Apr 2024This case report presents a fascinating scenario involving a 60-year-old female who was diagnosed with cecal volvulus secondary to appendicitis. The patient's initial...
This case report presents a fascinating scenario involving a 60-year-old female who was diagnosed with cecal volvulus secondary to appendicitis. The patient's initial presentation included a three-day history of periumbilical pain accompanied by reduced oral intake and an inability to pass stool. Through a systematic approach involving detailed history-taking, comprehensive physical examinations, and pertinent imaging studies, a precise diagnosis of cecal volvulus induced by appendicitis was established. Subsequently, the patient underwent a timely operation, leading to a successful resolution of her condition and a remarkably swift recovery post-surgery. This unique case prompts a deeper exploration into the incidence and management of this rare phenomenon, where the seemingly unrelated condition of appendicitis precipitated a cecal volvulus. Given the unusual nature of this presentation, it underscores the importance of considering atypical etiologies in patients presenting with signs and symptoms of bowel obstruction. This discussion aims to shed light on the diagnostic challenges, treatment strategies, and outcomes associated with this intriguing interplay of pathologies, offering valuable insights for clinicians encountering similar cases in their practice.
PubMed: 38765396
DOI: 10.7759/cureus.58505 -
World Journal of Surgery Jun 2024
Authors' response: Restoration of intestinal continuity following emergency sigmoid colectomy for sigmoid volvulus: An American College of Surgeons National Surgical Quality Improvement Program analysis using coarsened exact matching.
Topics: Humans; Colectomy; Quality Improvement; Intestinal Volvulus; Sigmoid Diseases; Colon, Sigmoid; United States
PubMed: 38757840
DOI: 10.1002/wjs.12215 -
GE Portuguese Journal of... Jun 2024
PubMed: 38757063
DOI: 10.1159/000534801 -
The Lancet. Global Health Jul 2024Nodding syndrome is a poorly understood neurological disorder that predominantly occurs in Africa. We hypothesised that nodding syndrome is a neuroinflammatory disorder,... (Randomized Controlled Trial)
Randomized Controlled Trial
BACKGROUND
Nodding syndrome is a poorly understood neurological disorder that predominantly occurs in Africa. We hypothesised that nodding syndrome is a neuroinflammatory disorder, induced by antibodies to Onchocerca volvulus or its Wolbachia symbiont, cross-reacting with host neuronal proteins (HNPs), and that doxycycline can be used as treatment.
METHODS
In this randomised, double-blind, placebo-controlled, phase 2 trial, we recruited participants from districts affected by nodding syndrome in northern Uganda. We included children and adolescents aged 8-18 years with nodding syndrome, as defined by WHO consensus criteria. Participants were randomly assigned (1:1) to receive either 100 mg doxycycline daily or placebo for 6 weeks via a computer-generated schedule stratified by skin microscopy results, and all parties were masked to group assignment. Diagnoses of O volvulus and antibodies to HNPs were made using luciferase immunoprecipitation system assays and immunohistochemistry. The primary outcome was change in the proportion with antibodies to HNPs, assessed at 24 months. All participants were included in safety analyses, and surviving participants (those with samples at 24 months) were included in primary analyses. Secondary outcomes were: change in concentrations of antibodies to HNPs at 24 months compared with baseline; proportion of participants testing positive for antibodies to O volvulus-specific proteins and concentrations of Ov16 or OVOC3261 antibodies at 24 months compared with baseline; change in seizure burden, proportion achieving seizure freedom, and the proportions with interictal epileptiform discharges on the diagnostic EEG; overall quality of life; disease severity at 24 months; and incidence of all-cause adverse events, serious adverse events, and seizure-related mortality by 24 months. This trial is registered with ClinicalTrials.gov, NCT02850913.
FINDINGS
Between Sept 1, 2016, and Aug 31, 2018, 329 children and adolescents were screened, of whom 240 were included in the study. 140 (58%) participants were boys and 100 (42%) were girls. 120 (50%) participants were allocated to receive doxycycline and 120 (50%) to receive placebo. At recruitment, the median duration of symptoms was 9 years (IQR 6-10); 232 (97%) participants had O volvulus-specific antibodies and 157 (65%) had autoantibodies to HNPs. The most common plasma autoantibodies were to human protein deglycase DJ-1 (85 [35%] participants) and leiomodin-1 (77 [32%] participants) and, in cerebrospinal fluid (CSF), to human DJ-1 (27 [11%] participants) and leiomodin-1 (14 [6%] participants). On immunohistochemistry, 46 (19%) participants had CSF autoantibodies to HNPs, including leiomodin-1 (26 [11%]), γ-aminobutyric acid B receptors (two [<1%]), CASPR2 (one [<1%]), or unknown targets (28 [12%]). At 24 months, 161 (72%) of 225 participants had antibodies to HNPs compared with 157 (65%) of 240 at baseline. 6 weeks of doxycycline did not affect the concentration of autoantibodies to HNPs, seizure control, disease severity, or quality of life at the 24-month follow-up but substantially decreased Ov16 antibody concentrations; the median plasma signal-to-noise Ov16 ratio was 16·4 (95% CI 6·4-38·4), compared with 27·9 (8·2-65·8; p=0·033) for placebo. 14 (6%) participants died and, other than one traffic death, all deaths were seizure-related. Acute seizure-related hospitalisations (rate ratio [RR] 0·43 [95% CI 0·20-0·94], p=0·028) and deaths (RR 0·46 [0·24-0·89], p=0·028) were significantly lower in the doxycycline group. At 24 months, 96 (84%) of 114 participants who received doxycycline tested positive for antibodies to Ov16, compared with 97 (87%) of 111 on placebo (p=0·50), and 74 (65%) participants on doxycycline tested positive for antibodies to OVOC3261, compared with 57 (51%) on placebo (p=0·039). Doxycycline was safe; there was no difference in the incidence of grade 3-5 adverse events across the two groups.
INTERPRETATION
Nodding syndrome is strongly associated with O volvulus and the pathogenesis is probably mediated through an O volvulus induced autoantibody response to multiple proteins. Although it did not reverse disease symptoms, doxycycline or another prophylactic antibiotic could be considered as adjunct therapy to antiseizure medication, as it might reduce fatal complications from acute seizures and status epilepticus induced by febrile infections.
FUNDING
Medical Research Council (UK).
TRANSLATION
For the Luo translation of the abstract see Supplementary Materials section.
Topics: Humans; Child; Adolescent; Female; Male; Doxycycline; Nodding Syndrome; Double-Blind Method; Uganda; Treatment Outcome; Anti-Bacterial Agents; Onchocerca volvulus
PubMed: 38754459
DOI: 10.1016/S2214-109X(24)00102-5 -
Clinical Journal of Gastroenterology May 2024Multiple endocrine neoplasia type 2B is a rare autosomal dominant disease characterized by the presence of medullary thyroid carcinoma, pheochromocytoma, Marfan-like...
Multiple endocrine neoplasia type 2B is a rare autosomal dominant disease characterized by the presence of medullary thyroid carcinoma, pheochromocytoma, Marfan-like fatigue, a peculiar face with thickening of the lips, mucosal neuromas on the lips and tongue, and gastrointestinal phenomena. Most patients harbor pathological variants of the RET gene. Herein, we present the first case of a 14 year-old boy who experienced small intestinal volvulus along with a megacolon, and he was diagnosed with multiple endocrine neoplasia type 2B. The patient complained of constipation since he was 2 years old and slowly progressive abdominal distension at school age. At 14 years of age, he presented with remarkable megacolon mimicking Hirschsprung's disease and complicated with small intestinal volvulus. The volvulus was successfully repaired, and the particularly dilated transverse colon was resected following a rectal biopsy. Histopathological evaluation of the resected transverse colon revealed to be compatible with ganglioneuromatosis. After emergency surgery, the patient was diagnosed with multiple endocrine neoplasia type 2B with medullary thyroid carcinoma, and a de novo variant of RET was confirmed. Gastroenterologists should consider it when treating patients with constipation, especially those with megacolon. Therefore, timely diagnosis may lead to appropriate treatment of medullary thyroid carcinoma and improve mortality.
PubMed: 38753051
DOI: 10.1007/s12328-024-01979-y