Hypoglycemia with lactic acidosis caused by a new MRPS2 gene mutation in a Chinese girl: a case report

Background Mitochondrial ribosomal protein S2 (MRPS2) gene mutation, which is related to severe hypoglycemia and lactic acidosis, is rarely reported globally. Case presentation We report a case of a new MRPS2 gene mutation in a Chinese girl who presented with hypoglycemia and lactic acidosis. A homozygous C.412C > G variant that could cause complex oxidative phosphorylation deficiency and had not been reported before was identified. The clinical manifestations included recurrent vomiting, hypoglycemia, lactic acidosis, sensorineural hearing loss, and gall bladder calculi. Hypoglycemia and lactic acidosis improved after the administration of sugary liquid and supportive treatments. Conclusions Recurrent hypoglycemia with lactic acidosis and sensorineural hearing loss should lead to suspicion of mitochondrial defects and the early refinement of genetic tests.

Clinical presentation and management of leuconostoc bacteremia in patient with prolonged ICU stay: Case report

A 54 years old female came to emergency with the complaints of pain in abdomen, recurrent vomiting, abdominal distention and not able to pass flatus since two days. Patient was managed in intensive care unit and was empirically put on Meropenem and Targocid. She developed multiple episodes of loose motion, and stool culture was sent which was positive for Clostridium defficle. Therefore, patient was put on Vancomycin and Metrogyl. The blood cultures reported growth of Leuconostoc pseudomesenteroides. Infection with Leuconostoc may cause fever, intravenous catheter-related sepsis, bacteremia, abdominal pain, gastroenteritis, colitis or meningitis. To summarize this rare organism which is most commonly seen in immunocompromised patients, was isolated in a previously healthy individual, post Vancomycin therapy with prolonged ICU stays.

Leptomeningeal metastasis from melanoma emulating chronic subdural hematoma: a case report

Background Melanoma is a disease in which the patient doesn’t know about the primary lesion, and it has a propensity to metastases to any organ in the human body. Amongst melanoma, leptomeningeal metastasis has the least incidence. Case presentation In this case, we report a 56-year-old lady presenting with headache, recurrent vomiting and slurring of speech which on imaging was suggestive of chronic subdural hematoma which had led to surgical preparation but upon further examination, and radioimaging was found to be leptomeningeal metastasis from melanoma for which systemic therapy was started. Conclusions The concern is vigilance that is much needed in any case presenting in emergency. When the diagnosis is chronic subdural hematoma, it is followed by surgical treatment which is not done for leptomeningeal metastasis.

Cholecysto-pyloric fistula with submucosal impaction of gall stone causing gastric outlet obstruction masquerading as a gastric mass, Bouveret Syndrome: case report

Background Cholecysto-enteric fistula is a rare complication of cholelithiasis and cholecystitis. Another even rarer complication is proximal impaction of gallstone(s) in gastric pylorus leading to gastric outlet obstruction, known as the Bouveret Syndrome. Only a few cases have been reported in the available literature. It can be confused with a malignant thickening at the pylorus, knowledge of this syndrome helps in arriving at the right diagnosis. Case report A 52-year-old female patient, who was admitted to our hospital for evaluation of recurrent vomiting and abdominal pain. She was investigated with various imaging modalities including upper gastrointestinal (GI) endoscopy, abdominal ultrasonography as well as Contrast Enhanced Computerized Tomography (CECT) scan of the abdomen. On the outside scan, it was given as a malignant thickening at the pylorus. However, current radiologists felt that imaging findings were not of a typical malignant mass, and suspicion of Bouveret syndrome was given. Intraoperative findings confirmed the diagnosis of Bouveret syndrome. The patient has not experienced any postoperative complications till now. Conclusion Bouveret syndrome is associated with significant morbidity and mortality. Being familiar with the imaging appearance of this condition, and differentiating it with malignant thickening can help radiologists avoid unnecessary invasive procedures in such patients. Being a benign etiology, it also helps in a better prognosis.

Intraluminal pyloric duplication cyst- a rare cause of non-bilious vomiting in a neonate: A case report

Background: Duplications of the alimentary tract are rare congenital malformations, out of which, true pyloric duplications constitute only 2.2%. They present with non-bilious vomiting and mimic hypertrophic pyloric stenosis (HPS). Pyloric duplications that are intraluminal are not separately visible at laparotomy, making their diagnosis difficult. Case presentation: Our case is a neonate with an intraluminal pyloric duplication cyst who presented with recurrent vomiting. The radiological evaluation suggested a duplication cyst medial to the second part of the duodenum towards the stomach’s lesser curvature with features of gastric outlet obstruction. Intraoperatively, a cystic mass of 1 x 2 cm intraluminally was found on opening the pylorus which was excised and pyloroplasty was done. Postoperatively the baby was discharged in a stable condition. Conclusion: Intraluminal pyloric duplication cysts are rare and the clinical presentation mimics HPS. They should be considered as a differential diagnosis in a neonate presenting with features of gastric outlet obstruction.

Pediatric Gallbladder Dysmotility: Not as Rare as Previously Considered a Case Report and Review of Literature

Introduction: Chronic abdominal pain in children is mostly functional, but in association with alarm symptoms such as recurrent vomiting, it is necessary to determine proper tests for the diagnosis of probable underlying organic problems. Case Presentation: Four patients with chronic refractory abdominal pain and nonspecific gastrointestinal symptoms presented to our tertiary pediatric center. After thorough medical and psychological investigations and hepatobiliary scintigraphy, and calculating gallbladder ejection fraction, laparoscopic cholecystectomy was performed. One year after the surgery, they were relatively symptom-free and returned to their routine life. Conclusions: Biliary tract abnormalities should be considered as a probable cause of chronic abdominal pain in children. Hepatobiliary scintigraphy can provide promising results to help to identify the underlying causes of chronic abdominal pain in association with nonspecific gastrointestinal manifestations.

Case Report: Hyponatremia Secondary to Desmopressin Administration Prior to Percutaneous Kidney Biopsy: A Case-Based Review

Bleeding remains the most clinically relevant complication of kidney biopsy and several prophylactic approaches were proposed, including desmopressin administration. We present the case of a 60-year-old man with a history of liver transplantation, admitted for the evaluation of a renal dysfunction. As part of our department protocol, desmopressin 60 μg was administered orally, 2 h before the percutaneous kidney biopsy. The patient developed acute, severe, symptomatic hyponatremia (i.e., headache and recurrent vomiting), followed by a life-threatening upper gastrointestinal bleeding due to a Mallory-Weiss syndrome. Although it is often used as bleeding prophylaxis prior to kidney biopsy, data regarding the efficacy and safety of desmopressin in this setting are inconsistent. Accordingly, we performed a thorough literature review of the use of desmopressin as bleeding prophylaxis prior to kidney biopsy, focusing on the incidence of hyponatremia. The reported incidence of hyponatremia (<130 mmol/l) was 7–11%, probably because serum sodium was monitored in few studies. Nevertheless, hyponatremia was rarely symptomatic but, in some cases, like the one presented here, its complications could be severe. Pre-biopsy low serum sodium and estimated glomerular filtration rate as well as high spot urine sodium and non-restricted fluid intake were reported to be associated with hyponatremia incidence. However, the current evidence cannot clearly establish which patients benefit the most from desmopressin use with respect to bleeding complications. We propose that when desmopressin is used for bleeding prophylaxis prior to kidney biopsy, measurements of serum sodium levels, before and every 6 h after, should complement ultrasound and hemoglobin as part of the patient post-procedural monitoring. Also, water intake should be restricted in the day of biopsy. However, this proposed approach should be adequately evaluated in a clinical trial.

Late-Onset Presentation of the Jejunal Web: A Case Report and Review of the Literature

Introduction: The congenital intestinal web is a rare cause of small bowel obstruction classified as type I intestinal atresia. The second portion of the duodenum is the most prevalent site for these webs, whereas the jejunal web is rare. Case presentation: In this study, we present a very uncommon late presentation of the jejunal web in an 18-month-old girl complaining of chronic recurrent vomiting, constipation, and failure to thrive (FTT). After thorough investigations, the diagnosis was confirmed by the small bowel follow-through. The surgical procedure resulted in a significant improvement in patient’s quality of life, given the subsequent increase in her weight and height. Conclusions: Vomiting that occurs at any age is pathologic and requires careful history taking thorough clinical examination and evaluation, especially in patients treated with proton pump inhibitors such as omeprazole for a long time with a diagnosis of gastroesophageal reflux disease (GERD) without any response. In these patients, gastrointestinal abnormalities, including complete or incomplete obstructions such as malrotation and web, should be made in the differential diagnosis.