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International Medical Case Reports... 2024A class of disorders known as inborn errors of immunity (IEI) is defined by a compromised or missing immune response, which increases the vulnerability to infections,...
INTRODUCTION
A class of disorders known as inborn errors of immunity (IEI) is defined by a compromised or missing immune response, which increases the vulnerability to infections, immunological dysregulation, and cancer. Severe combined immunodeficiencies (SCIDs), affecting both T and B-cell function are rare but often severe diseases. In this report, we describe a 10-month-old SCID patient from Sudan with disseminated BCG infection.
CASE PRESENTATION
A 10-month-old boy whose parents were first degree relatives, presented with a six-month history of repeated chest infections and fever. Physical examination revealed a very ill-looking boy with respiratory distress dependent on oxygen, had slight abdominal distention and hepatomegaly. Investigations revealed positive polymerase chain reaction (PCR) for complex infection and low CD4+ and CD8+ cells. Genetic testing showed compound heterozygosity in for two variants in the Zeta-chain Associated Protein Kinase 70 (ZAP70) gene associated with autosomal recessive SCID. The patient was started on BCG-related infection treatment, intravenous immunoglobulin (IVIG) replacement and trimethoprim/sulfamethoxazole prophylaxis with an excellent response and the patient responded well to the treatment.
CONCLUSION
SCIDs are rare, and early management is crucial. In this case, a diagnosis of ZAP70 deficiency was based on next-generation sequencing and inhouse bioinformatic computational analysis of the , highlighting the importance of genetic testing in the workup of immunodeficiencies in low resource settings.
PubMed: 38836069
DOI: 10.2147/IMCRJ.S451600 -
Case Reports in Gastrointestinal... 2024Malignant rectal strictures are uncommon, but they may pose a diagnostic challenge in clinical practice. We report the case of an 85-year-old male with an initially...
Malignant rectal strictures are uncommon, but they may pose a diagnostic challenge in clinical practice. We report the case of an 85-year-old male with an initially puzzling presentation of abdominal distention and discomfort. The patient was ultimately diagnosed with a rectal stricture caused by a plasmacytoid variant of urothelial cell carcinoma originating from the bladder. This case emphasizes the necessity of considering unique etiologies when evaluating rectal strictures and the aggressive character of this type of urothelial carcinoma.
PubMed: 38828005
DOI: 10.1155/2024/4823396 -
Journal of Surgical Case Reports May 2024A previous surgical incision can lead to an abdominal wall defect known as an incisional hernia. The protrusion of abdominal viscera, particularly bowel loops, through...
A previous surgical incision can lead to an abdominal wall defect known as an incisional hernia. The protrusion of abdominal viscera, particularly bowel loops, through this defect can result in various complications and affect organ function. Bowel loops are frequently involved and can lead to incarceration, obstruction or even strangulation. A 38-year-old male with a history of open reduction internal fixation for the left iliac wing presented with abdominal pain, vomiting and obstipation. Abdominal examination revealed a tender, distended abdominal area with swelling on the left hip. Radiological examination revealed bowel obstruction at the previous surgery site. During surgery, an incisional hernia was confirmed, and the bowel was found viable. Incisional hernias can occur even many years after primary surgery and may remain asymptomatic until complications arise. Elective hernial repair is recommended in some cases, such as the one presented here, as complications can be fatal.
PubMed: 38826863
DOI: 10.1093/jscr/rjae369 -
International Journal of Surgery Case... Jul 2024Colocolic intussusception occur in less than 5 % of all cases of intussusception. Median age at presentation is 4.4 years. Usually presents with features of intestinal...
INTRODUCTION AND IMPORTANCE
Colocolic intussusception occur in less than 5 % of all cases of intussusception. Median age at presentation is 4.4 years. Usually presents with features of intestinal obstruction. Common causes include pathological lead points like juvenile polyps, Meckel's diverticulum and lymphoma. However, rarely occurs without an organic cause as presented in the index case.
CASE PRESENTATION
We present a case of colocolic intussusception in a 5-year-old boy with clinical evidence of blood-stained mucoid stools, abdominal distention and post prandial vomiting. CT-scan confirmed the clinical diagnosis. Surgical exploration revealed left-sided colocolic intussusception without a pathological lead point.
CLINICAL DISCUSSION
Most cases of colonic intussusception have a pathological lead point. Clinical features are unspecific but mostly present with intestinal obstruction, hence, a CT-scan aids in establishing the diagnosis.
CONCLUSION
Colocolic intussusception is a rare subtype of intussusception in the paediatric age group especially in the absence of a pathological lead point. This case report presents a rare case of colocolic intussusception without pathological lead point, highlighting the importance of advanced imaging modalities like CT-scan in establishing the diagnosis and guiding management.
PubMed: 38824742
DOI: 10.1016/j.ijscr.2024.109841 -
Discover Oncology May 2024Deficiency of citrin, the liver-type aspartate-glutamate carrier, arises from biallelic mutations of the gene SLC25A13. Although citrin deficiency (CD) is associated...
Deficiency of citrin, the liver-type aspartate-glutamate carrier, arises from biallelic mutations of the gene SLC25A13. Although citrin deficiency (CD) is associated with higher risk of hepatocellular carcinoma (HCC) in adult patients, this association remains inconclusive in pediatric cases. The patient in this paper had been diagnosed to have CD by SLC25A13 analysis at the age 10 months, and then in response to dietary therapy, her prolonged jaundice and marked hepatosplenomegaly resolved gradually. However, she was referred to the hospital once again due to recurrent abdominal distention for 2 weeks at her age 4 years and 9 months, when prominently enlarged liver and spleen were palpated, along with a strikingly elevated serum alpha-fetoprotein (AFP) level of 27605 ng/mL as well as a large mass in the right liver lobe and a suspected tumor thrombus within the portal vein on enhanced computed tomography. After 4 rounds of adjuvant chemotherapy, right hepatic lobectomy and portal venous embolectomy were performed at her age 5 years and 3 months, and metastatic hepatoblastoma was confirmed by histopathological analysis. Afterwards, the patient underwent 5 additional cycles of chemotherapy and her condition remained stable for 7 months after surgery. Unfortunately, hepatoblastoma recurred in the left lobe at the age 5 years and 10 months, which progressed rapidly into liver failure, and led to death at the age 6 years and 1 month. As far as we know, this is the the first case of hepatoblastoma in a patient with CD, raising the possibility of an association between these two conditions.
PubMed: 38819760
DOI: 10.1007/s12672-024-01059-0 -
Cureus Apr 2024We present a case of a male in his 60s with a history of alpha-gal syndrome (AGS) who presented with recurrent acute colonic pseudo-obstruction, also known as Ogilvie...
We present a case of a male in his 60s with a history of alpha-gal syndrome (AGS) who presented with recurrent acute colonic pseudo-obstruction, also known as Ogilvie syndrome, and underwent surgical treatment for life-limiting symptoms of colonic distention, constipation, and abdominal pain. Prior to surgery, he was hospitalized multiple times after beef consumption and was diagnosed with Ogilvie syndrome, requiring a colonoscopy with rectal tube placement for symptom resolution. He later underwent a robotic subtotal colectomy with ileocolic anastomosis. Follow-up visits showed improvement in symptoms of constipation and abdominal distention. This case highlights that AGS may lead to severe manifestations, such as recurrent Ogilvie syndrome. Due to the increasing prevalence of AGS and limited data on disease course, further research is needed to determine symptom manifestations and the potential utility of surgery in management.
PubMed: 38817474
DOI: 10.7759/cureus.59357 -
Radiology Case Reports Aug 2024infections persist globally among humans. These pathogens mainly inhabit the intrahepatic biliary system. Most individuals with clonorchiasis exhibit mild symptoms. The...
infections persist globally among humans. These pathogens mainly inhabit the intrahepatic biliary system. Most individuals with clonorchiasis exhibit mild symptoms. The absence of distinctive symptoms often results in delayed diagnosis and treatment, potentially leading to chronic infection. We herein report a case of a 29-year-old female presented with a year-long history of abdominal distention and dyspepsia. Imaging revealed intrahepatic bile duct dilatation, intrahepatic bile duct cyst, and associated deposits. One month post-cystectomy, the patient developed massive ascites and a significant increase in eosinophil count. After treatment, multiple worms were observed in the drainage tube. Morphological and DNA metagenomic analyses confirmed the presence of Clinical manifestations of C. sinensis vary widely. Imaging serves as a valuable diagnostic tool in endemic areas, especially in detecting intrahepatic duct dilation where the flukes reside. In addition to intrahepatic bile duct dilation, abnormal echoes within the bile duct and the presence of floating objects in the gallbladder significantly aid in diagnosis. Clinicians may encounter these parasitic diseases unexpectedly, underscoring the importance of understating such cases in routine practice and contributing to our broader understanding of managing similar cases in clinical settings.
PubMed: 38812594
DOI: 10.1016/j.radcr.2024.04.085 -
BMC Surgery May 2024To investigate whether simethicone expediates the remission of abdominal distension after laparoscopic cholecystectomy (LC).
OBJECTIVE
To investigate whether simethicone expediates the remission of abdominal distension after laparoscopic cholecystectomy (LC).
METHODS
This retrospective study involved LC patients who either received perioperative simethicone treatment or not. Propensity score matching (PSM) was employed to minimize bias. The primary endpoint was the remission rate of abdominal distension within 24 h after LC. Univariable and multivariable logistic regression analyses were conducted to identify independent risk factors affecting the early remission of abdominal distension after LC. Subsequently, a prediction model was established and validated.
RESULTS
A total of 1,286 patients were divided into simethicone (n = 811) and non-simethicone groups (n = 475) as 2:1 PSM. The patients receiving simethicone had better remission rates of abdominal distension at both 24 h and 48 h after LC (49.2% vs. 34.7%, 83.9% vs. 74.8%, respectively), along with shorter time to the first flatus (14.6 ± 11.1 h vs. 17.2 ± 9.1 h, P < 0.001) compared to those without. Multiple logistic regression identified gallstone (OR = 0.33, P = 0.001), cholecystic polyp (OR = 0.53, P = 0.050), preoperative abdominal distention (OR = 0.63, P = 0.002) and simethicone use (OR = 1.89, P < 0.001) as independent factors contributing to the early remission of abdominal distension following LC. The prognosis model developed for predicting remission rates of abdominal distension within 24 h after LC yielded an area under the curve of 0.643 and internal validation a value of 0.644.
CONCLUSIONS
Simethicone administration significantly enhanced the early remission of post-LC abdominal distension, particularly for patients who had gallstones, cholecystic polyp, prolonged anesthesia or preoperative abdominal distention.
TRIAL REGISTRATION
ChiCTR2200064964 (24/10/2022).
Topics: Humans; Retrospective Studies; Female; Male; Propensity Score; Middle Aged; Cholecystectomy, Laparoscopic; Simethicone; Postoperative Complications; Adult; Treatment Outcome; Aged; Abdomen
PubMed: 38811935
DOI: 10.1186/s12893-024-02460-w -
Cureus Apr 2024The case is a woman in her 60s. She had been aware of lower abdominal distention and pain for six months but was under observation. Gradually, the patient experienced...
The case is a woman in her 60s. She had been aware of lower abdominal distention and pain for six months but was under observation. Gradually, the patient experienced worsening pain during distention and became aware of distention, especially before urination. She visited our clinic. Ultrasound (US) and computed tomography (CT) revealed an abdominal incisional hernia. The hernia was in the bladder. We decided on surgical treatment and made a skin incision of about 3 cm just above the hernia portal. Since the size of the hernia portal was approximately 1.3 cm, the patient underwent direct suture closure to repair the hernia portal, and the surgery was completed. The postoperative course was good. The patient was discharged on the second postoperative day. Four months have passed since the surgery, and the patient is under observation without recurrence.
PubMed: 38800232
DOI: 10.7759/cureus.58955 -
Cureus Apr 2024Ogilvie's syndrome is a colonic pseudo-obstruction that results in colonic dilation without a mechanical obstruction. We discuss a 33-year-old, 36-week pregnant,...
Ogilvie's syndrome is a colonic pseudo-obstruction that results in colonic dilation without a mechanical obstruction. We discuss a 33-year-old, 36-week pregnant, G1P0L0A0 female who presented with severe pre-eclampsia. Less than 24 hours after induction by vaginal delivery, she developed significant abdominal pain and distention. On a CT scan of the abdomen and pelvis, she was diagnosed with Ogilvie's syndrome due to a finding of large bowel dilation with an abrupt transition point at the splenic flexure without a noted mass. She was initially treated conservatively with nasogastric tube decompression and IV fluid resuscitation. When these conservative measures failed, neostigmine was administered with transient improvement in symptoms. Despite the appropriate administration of neostigmine and initial relief of symptoms with stool output, the patient ultimately required surgical intervention with the creation of a transverse loop colostomy. The development of Ogilvie's syndrome in the postpartum period is a very rare finding, particularly after a vaginal delivery.
PubMed: 38765403
DOI: 10.7759/cureus.58483