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Cureus Mar 2024Cerebral palsy (CP) is a neurodevelopmental disorder that affects motor function and is often accompanied by secondary musculoskeletal issues. Severe scoliosis, a...
Cerebral palsy (CP) is a neurodevelopmental disorder that affects motor function and is often accompanied by secondary musculoskeletal issues. Severe scoliosis, a lateral curvature of the spine over 40 degrees, poses a significant challenge for individuals with CP, impacting their mobility and overall well-being. While the association between scoliosis and gastrointestinal complications is acknowledged, the occurrence of colonic volvulus with necrosis in the context of CP and severe scoliosis is rare and complex. This case report emphasizes the importance of clinical awareness in managing gastrointestinal complications in patients with CP and severe scoliosis. An 11-year-old female presented with gastroenteritis and a concurrent viral upper respiratory tract infection. She experienced complications such as greenish vomiting, hematemesis, abdominal distention, and constipation. The patient has a medical history of epilepsy and was diagnosed with quadriplegic CP at four months old due to viral meningitis. She is currently on anti-epileptic medications and receives regular follow-ups with neurology. Severe lumbar scoliosis of more than 50 degrees Cobb angle is also noted. Physical examination revealed dehydration, bilious content in nasogastric tube (NGT) aspiration, tender abdomen, and an empty digital rectal examination. Some laboratory findings showed elevated levels of erythrocyte sedimentation rate (ESR), prothrombin time (PT), blood urea nitrogen (BUN), and sodium, while albumin levels were decreased, and white blood cell (WBC) count was mildly elevated. Abdominal computed tomography (CT) with contrast showed a distended ascending colon with air and swirling of the mesentery. The distal half of the large bowel was not dilated, and fecal matter was present. The small bowel appeared to be collapsed, and there was moderate free fluid in the peritoneal cavity, indicating colonic volvulus involving the proximal large bowel. The patient underwent surgery, which involved deflating and removing the distended colon, resecting the gangrenous colon, and performing an ilio-sigmoid anastomosis to restore gastrointestinal continuity. Postoperatively, the patient received close monitoring in the pediatric intensive care unit (PICU), received total parenteral nutrition (TPN) for five days, gradually progressed feeding, and showed overall improvement in her condition. In conclusion, this case report highlights a rare occurrence of colonic volvulus in a patient with CP and severe scoliosis. It emphasizes the complex relationship between neurological and musculoskeletal disorders in gastrointestinal complications. A multidisciplinary approach is important for optimal management. It shows the importance of musculoskeletal factors in patients with neurological conditions. Overall, it contributes to the medical literature and emphasizes tailored management strategies for gastrointestinal issues in such patients.
PubMed: 38650790
DOI: 10.7759/cureus.56743 -
Case Reports in Women's Health Jun 2024Uterine myomas, fibroids or leiomyomas are benign neoplasms that can present as abnormal uterine bleeding and pressure symptoms. Significant complications are...
Uterine myomas, fibroids or leiomyomas are benign neoplasms that can present as abnormal uterine bleeding and pressure symptoms. Significant complications are infrequent, but they can be life-threatening. This is a case of a ruptured fibroid where excessive intra-abdominal bleeding resulted in hemoperitoneum. In this clinical scenario, timely recognition and intervention were essential to prevent morbidity and mortality. This article discusses the diagnostic challenges and surgical management of a case of hemoperitoneum resulting from spontaneous haemorrhage from a ruptured vessel on the surface of a subserosal leiomyoma. A 42-year-old patient with a known multi-fibroid uterus awaiting elective surgery presented with acute-onset abdominal pain to the emergency department. She had a distended, tender abdomen. Laboratory tests and contrast computerised tomography revealed haemorrhage with no clear source of bleeding. Emergency midline laparotomy revealed active bleeding from the surface of a posterior subserosal leiomyoma with 1950 mL hemoperitoneum. A total abdominal hysterectomy was performed, and the patient had an uncomplicated recovery. The pre-operative haemoglobin level was 80 g/L, which normalized after several blood transfusions. Histopathological examination confirmed multiple leiomyomas and haemorrhage associated with ischaemic changes. Hemoperitoneum from a bleeding degenerating leiomyoma is an exceedingly uncommon complication. The atypical presentation of abdominal pain and the presence of a multi-fibroid uterus posed diagnostic challenges. This case underscores the importance of considering leiomyomas as a potential cause of acute abdominal pain and bleeding. Timely surgical intervention, supported by a multidisciplinary approach, is essential for optimal patient outcome.
PubMed: 38646503
DOI: 10.1016/j.crwh.2024.e00609 -
European Journal of Human Genetics :... Jun 2024Acrokeratoelastoidosis (AKE) is a rare autosomal dominant hereditary skin disease characterized by small, round-oval, flat-topped keratotic papules on the palms, soles...
Acrokeratoelastoidosis (AKE) is a rare autosomal dominant hereditary skin disease characterized by small, round-oval, flat-topped keratotic papules on the palms, soles and dorsal aspect of hands or feet. The causative gene for AKE remains unidentified. This study aims to identify the causative gene of AKE and explore the underlying biological mechanisms. A large, three-generation Chinese family exhibiting classic AKE symptoms was identified. A genome-wide linkage analysis and whole-exome sequencing were employed to determine the causative gene. shRNA knockdown in human skin fibroblasts and CRISPR/Cas9 knockout in HEK293T cells were utilized to assess gene functions in the progression of elastic fiber biosynthesis. The linkage analysis identified a susceptibility region between rs7296765 to rs10784618 on chromosome 12. Whole-exome sequencing confirmed a splicing mutation of 1101 + 1 G > A in the CCDC91 gene, resulting in exon 11 skipping and a subsequent 59-amino-acid-residue loss (residues L309-Q367del). Further functional analysis revealed distended Golgi cisternae, cytoplasmic vesicle accumulation, and lysosome presence. Immnunostaining of si-CCDC91-HSF cells demonstrated tropoelastin accumulation in the Golgi and abnormal extracellular aggregates. There are no significant changes in Fibrillin-1 microfibril assembly and lysyl oxidase activity. The findings strongly suggest that the protein product of the CCDC91 gene plays a crucial role in elastin transport. This discovery enhances our understanding of CCDC91's function and broadens the known pathogenic mechanisms of AKE.
Topics: Adult; Female; Humans; Male; Middle Aged; Exome Sequencing; HEK293 Cells; Keratoderma, Palmoplantar; Mutation; Pedigree
PubMed: 38627542
DOI: 10.1038/s41431-024-01573-3 -
BMJ Case Reports Apr 2024Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare, congenital functional intestinal obstruction, characterised by megacystis (bladder...
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare, congenital functional intestinal obstruction, characterised by megacystis (bladder distention in the absence of mechanical obstruction), microcolon and intestinal hypoperistalsis (dysmotility).We are reporting a case of a female child with normal antenatal course who presented with recurrent episodes of abdominal distension since the second day of life and underwent negative exploratory laparotomy on multiple occasions. She also had urinary retention with a grossly distended bladder, requiring drainage by clean intermittent catheterisation. Surgical procedures for bowel decompression, including gastrostomy and ileostomy, were carried out without success. Genetic analysis revealed a mutation in the human smooth muscle (enteric) gamma-actin gene (ACTG2 gene), clinching the diagnosis of MMIHS. The patient was managed with parenteral nutrition and prokinetic medications and tolerated jejunostomy feeds for a brief period before she succumbed to the illness.Female neonates or infants presenting with abdominal distension and dilated urinary tract should be investigated for MMIHS early on. A timely diagnosis will enable the early involvement of a multidisciplinary team to provide the best options available for management.
Topics: Infant; Infant, Newborn; Child; Humans; Female; Pregnancy; Urinary Bladder; Intestinal Pseudo-Obstruction; Abnormalities, Multiple; Fetal Diseases; Colon; Urinary Retention; Peristalsis
PubMed: 38627049
DOI: 10.1136/bcr-2024-259983 -
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke... Apr 2024To assess the clinical features and CT diagnostic characteristics of Branchio-Oto-Renal or Branchio-Oto Syndrome The temporal CT findings and clinical features...
To assess the clinical features and CT diagnostic characteristics of Branchio-Oto-Renal or Branchio-Oto Syndrome The temporal CT findings and clinical features observations of 13 patients with Branchio-Oto-Renal Syndrome (BORS) or Branchio-Oto Syndrome(BOS) confirmed by genetic testing were retrospectively analyzed. There were 8 males and 5 females, aged from 1 to 39 years, with a median age of 9 years, in which 3 pairs (6 cases) were parent-child relationship. All of 13 cases had hearing loss and preauricular fistula, 11 cases accompanied by 2nd branchial fistulas. There were 20 ears of mixed hearing loss, 3 ears of sensorineural hearing loss, and 2 ears of conductive hearing loss. The mutation point of gene testing was located in in 12 cases and in 1 case. Twenty ears showed gradually narrowing of the diameter of basal turn, with hypoplasia in the second turn and aplasia in apical turn. There were irregular wall of vestibule and horizontal semicircular canal in 10 ears,widened vestibular in 7 ears, and vestibular fusion with horizontal semicircular canal in 3 ears. Three ears had an enlarged vestibular aqueduct, 8 ears showed enlargement of internal auditory canal. Seventeen ears had adhesion of malleolus to tympanic cavity. Six ears could not measured the incudostapedial joint angle by reason of tympanic inflammatory cover, 3 ears could not show incudostapedial joint, and 8 ears showed the incudostapedial joint angle more than 122°. Six ears showed poor oval window, and 1 ear had poor round window. Eighteen ears showed distended eustachian tube, and accompanied by tympanic or mastoiditis in 11 ears. Anterolateral shift of tympanum was found in 22 ears, 17 ears had low middle cranial fossa, and 3 ears had stenotic external auditory canal. Cochlear dysplasia, ossicular chain malformation and distended eustachian tube comprise the characteristic CT signs of BOS/BORS, which possesses versatile and complex CT findings. Temporal CT can accurately assess the important structures such as cochlea, ossicles, vestibule, semicircular canal, vestibular aqueduct and internal auditory canal. Combing with the clinical characteristics of bilateral, mixed hearing loss, preauricular fistula and branchial fistula can provide valuable information for early diagnosis and treatment.
Topics: Male; Female; Humans; Child; Hearing Loss, Mixed Conductive-Sensorineural; Retrospective Studies; Branchio-Oto-Renal Syndrome; Vestibule, Labyrinth; Tomography, X-Ray Computed; Fistula; Homeodomain Proteins
PubMed: 38622020
DOI: 10.3760/cma.j.cn115330-20231019-00160 -
The American Journal of Gastroenterology May 2024Peroral endoscopic myotomy (POEM) may result in a distended distal esophagus, referred to as a blown-out myotomy (BOM), the relevance of which is uncertain. The aim of...
INTRODUCTION
Peroral endoscopic myotomy (POEM) may result in a distended distal esophagus, referred to as a blown-out myotomy (BOM), the relevance of which is uncertain. The aim of this study was to investigate the prevalence, risk factors, and associated symptoms of BOM after achalasia treatment.
METHODS
A data set of the locally treated patients in a randomized controlled trial comparing POEM with pneumatic dilation (PD) was analyzed. A BOM is defined as a >50% increase in esophageal diameter at its widest point in the distal esophagus between the lower esophageal sphincter and 5 cm above.
RESULTS
Seventy-four patients were treated in our center, and 5-year follow-up data were available in 55 patients (32 patients [58%] randomized to POEM, 23 [42%] PD). In the group initially treated with POEM, the incidence of BOM increased from 11.5% (4/38) at 3 months, to 21.1% (8/38) at 1 year, 27.8% (10/36) at 2 years, and 31.3% (10/32) at 5 years. None of the patients treated with PD alone developed a BOM. Patients who developed a BOM had a higher total Eckardt score and Eckardt regurgitation component compared with patients who underwent POEM without BOM development (3 [2.75-3.25] vs 2 [1.75-3], P = 0.032, and 1 [0.75-1] vs 0 [0-1], P = 0.041). POEM patients with a BOM more often report reflux symptoms (85% [11/13] vs 46% [2/16], P = 0.023) and had a higher acid exposure time (24.5% [8-47] vs 6% [1.2-18.7], P = 0.027).
DISCUSSION
Thirty percent of the patients treated with POEM develop a BOM, which is associated with a higher acid exposure, more reflux symptoms, and symptoms of regurgitation.
PubMed: 38619115
DOI: 10.14309/ajg.0000000000002816 -
Cureus Mar 2024Spontaneous perforation of the colon is a rare disease defined as sudden perforation of a healthy colon without evidence of trauma or disease. These perforations are...
Spontaneous perforation of the colon is a rare disease defined as sudden perforation of a healthy colon without evidence of trauma or disease. These perforations are typically classified as either stercoral or idiopathic. Cecal perforation during pregnancy is an uncommon and potentially life-threatening condition requiring prompt recognition and surgical intervention. We present a case of a 33-year-old woman at 29 weeks and three days gestation presenting with spontaneous cecal perforation. She presented to the emergency department with diffuse abdominal pain and distention lasting for three days, associated with nausea and vomiting. Following evaluation, she was diagnosed with diffuse peritonitis. The diagnosis of this condition relies on both the clinical presentation and the utilization of radiographic imaging. The patient underwent an emergent explorative laparotomy with prompt surgical intervention to repair the 1.2 x 0.8 cm perforation found on her distended cecum. The surgical repair consisted of the excision of the edges and the primary suture of the perforation with an omental patch. Her post-procedure course was uneventful, and she later delivered a healthy baby at full term. This case highlights the importance of considering uncommon causes of acute abdominal pain in pregnant women to ensure timely diagnosis and management.
PubMed: 38595875
DOI: 10.7759/cureus.55862 -
Cureus Mar 2024Gastric gastrointestinal stromal tumour (GIST) is a rare disease with an annual incidence of 10 cases per million. Herein, we present the case of a 45-year-old man who...
Gastric gastrointestinal stromal tumour (GIST) is a rare disease with an annual incidence of 10 cases per million. Herein, we present the case of a 45-year-old man who visited our clinic with complaints of weight loss and anorexia, without changes in bowel habits or vomiting, for four months. On physical examination, all vital signs were normal. The abdomen was distended without tenderness and had a giant upper abdominal mass. Tumour marker investigation revealed high levels of cancer antigen 125 with normal levels of alpha-1-fetoprotein, carcinoembryonic antigen, and carbohydrate antigen. A computed tomography (CT) scan showed a mass measuring 35 × 25 × 20 cm, likely originating from the fundus of the stomach. Upper gastrointestinal endoscopy indicated external compression of the stomach and a fundal submucosal mass. Ultrasound-guided biopsy demonstrated the presence of a GIST. There was a severe danger of both the tumour rupturing during surgery and the combined excision of adjacent organs if the surgery was performed with the massive tumour. Therefore, daily neoadjuvant therapy with imatinib 400 mg was administered for three months. Post-therapeutic CT indicated a significant reduction in the size of the mass, which now measured 17 × 14 × 21 cm. The patient underwent surgical resection a month after the completion of neoadjuvant therapy, and the post-operative period was uneventful. He was followed up regularly at the general surgery department for 24 months without recurrence. This case asserts the benefit of neoadjuvant therapy in reducing the tumour size pre-operatively, which enhances the complete resection rate, prevents the need for multi-organ resection, and lowers the risk of surgery.
PubMed: 38586745
DOI: 10.7759/cureus.55655 -
International Journal of Surgery Case... May 2024There has been a significant increase in the prevalence of morbid obesity across the globe. Various non-surgical weight loss options have shown limited long-term...
INTRODUCTION
There has been a significant increase in the prevalence of morbid obesity across the globe. Various non-surgical weight loss options have shown limited long-term efficacy, leading to the popularity of surgical treatment alternatives with long-term efficacy.
PRESENTATION OF CASE
This case report describes the development of a gastric mucocele in a 51-year-old female patient. The patient initially underwent open butterfly gastroplasty in August 2016. Seven years later, she presented with severe symptoms of gastroesophageal reflux disease (GERD). After further diagnostic evaluations, laparoscopic Roux-en-Y bypass surgery was performed. However, the patient experienced complications including fever, abdominal pain, and fluid collection around the stomach. Conservative management initially helped, but persistent symptoms led to laparoscopic exploration, which revealed a distended remnant stomach forming a gastric mucocele. Severe adhesions hindered attempts to remove the remnant stomach, resulting in the need for gastro-gastric anastomosis. Following the surgery, the patient had no symptoms, could eat solid food, and was discharged in good condition.
DISCUSSION
Although various non-surgical weight loss options such as diet modifications, lifestyle changes, and drug therapy have been used for weight loss, they have demonstrated limited long-term efficacy. Surgical treatment has demonstrated long-term efficacy in such patient groups. In recent years, there has been an increased popularity of Roux-en-Y gastric bypass (RYGBP) due to long-term weight loss. However, in some cases, complications have also been reported.
CONCLUSION
This case emphasizes the challenges in managing complications from open butterfly gastroplasty and Roux-en-Y gastric bypass. Surgeons should be aware of the possibility of gastric mucocele development and consider appropriate management strategies.
PubMed: 38579597
DOI: 10.1016/j.ijscr.2024.109561 -
World Journal of Gastrointestinal... Mar 2024Colorectal carcinoma is common, particularly on the left side. In 20% of patients, obstruction and ileus may be the first clinical manifestations of a carcinoma that has... (Review)
Review
Colorectal carcinoma is common, particularly on the left side. In 20% of patients, obstruction and ileus may be the first clinical manifestations of a carcinoma that has advanced (stage II, III or even IV). Diagnosis is based on clinical presentation, plain abdominal radiogram, computed tomography (CT), CT colonography and positron emission tomography/CT. The best management strategy in terms of short-term operative or interventional and long-term oncological outcomes remains unknown. For the most common left-sided obstruction, the first choice should be either emergency surgery or endoscopic decompression by self-expendable metal stents or tubes. The operative plan should be either one-stage or two-stage resection. One-stage resection with on-table bowel decompression and irrigation can be accompanied or not accompanied by proximal defunctioning stoma (colostomy or ileostomy). Primary anastomosis is more convenient but has increased risks of anastomotic leakage and morbidity. Two-stage resection (Hartmann's procedure) is safer and the most widely used despite temporally affecting quality of life. Damage control surgery in high-risk frail patients is less frequently performed since it can be successfully substituted with endoscopic stenting or tubing. For the less common right-sided obstruction, one-stage surgical resection is more beneficial than endoscopic decompression. The role of minimally invasive surgery (laparoscopic or robotic) is a subject of debate. Emergency laparoscopic-assisted management is advantageous to some extent but requires much expertise due to inherent difficulties in dissecting the distended colon and the risk of rupture and subsequent septic complications. The decompressing stent as a bridge to elective surgery more substantially decreases the risks of morbidity and mortality than emergency surgery for decompression and has equivalent medium-term overall survival and disease-free survival rates. Its combination with neoadjuvant chemotherapy or radiation may have a positive effect on long-term oncological outcomes. Management plans are crucial and must be individualized to better fit each case.
PubMed: 38577464
DOI: 10.4251/wjgo.v16.i3.598