United States

Background
Mauriac Syndrome is a unique complication of prolonged periods of poor glycemic control in children and adolescents with Type 1 Diabetes Mellitus. Patients present with hepatomegaly secondary to glycogen deposits in the liver. Subsequent hormonal axis disruptions cause short stature and delayed puberty.

Case Presentation
A 15-year-old male with a history of Type 1 Diabetes Mellitus, Celiac Disease, and Growth Hormone Deficiency presented to the Emergency Department with a 5-month history of worsening abdominal pain and distention. He denied fever, weight loss, loss of appetite, emesis, constipation or diarrhea.
Pertinent physical exam findings included generalized abdominal tenderness and hepatomegaly palpable 5 cm below the right costal margin. Weight and height were below the 1st percentile.
Lab findings included Hgb A1c 10.1%, elevated AST 743, ALT 969, Alk Phos 420, GGT 927, Glucose 586, Anion Gap 23.2, UA 4+ glucose/1+ ketones, POC Gas pH 7.3, and HCO3 16.9. Following a normal saline bolus and subcutaneous insulin, his glucose improved to 277, pH 7.4, and HCO3 25.
Imaging revealed an enlarged liver shadow on abdominal x-ray. Ultrasound and MRI of the abdomen confirmed hepatomegaly without masses. Bone Age scan revealed borderline delayed bone age.
He was admitted to the inpatient floor. Endocrinology coordinated his insulin regimen with significant improvement of his hyperglycemia and transaminitis.

Discussion
Mauriac Syndrome should be considered in a pediatric patient with diabetes presenting with hepatomegaly, growth/puberty delay, and short stature. Achieving adequate glycemic control and optimizing an insulin regimen is key to management. With treatment, hepatomegaly resolves, however, growth delays are not easily reversed. Patient education on glucose management and consistent Endocrinology follow up is critical to prevent the development of Mauriac syndrome.

2022 AMA Research Challenge

Mauriac Syndrome: Glycogen Hepatopathy in a Pediatric Patient

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Ricardo Correa, MD, EdD
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Jessica Li, MD/PhD Candidate
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Charles Lopresto, DO

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Welcome to the largest national, multi-specialty research event featuring research from 750 medical students, residents and fellows, and international medical graduates.


poster

We describe an immunocompromised individual with chronic diarrhea who developed an acute kidney injury in the setting of chronic Norovirus infection.

A 75 year-old female with cadaveric renal transplant 10 years prior (on immunosuppression) presented with acute right flank pain, worsening fatigue and unintentional weight loss of 80 lbs for over a year. She was tachycardic and hypotensive with a non-tender right lower quadrant renal transplant. Laboratories showed a bicarbonate of 12 mEq/L, blood urea nitrogen of 35 mg/dL, creatinine of 2.4 mg/dL (baseline creatinine 0.9) and white blood cell count of 4.4 K/mcL. Urine studies showed 3+ protein and protein/creatinine ratio of 7,900 mg/g. Tacrolimus level was appropriate. A renal transplant ultrasound was nonspecific, revealing mildly elevated resistive indices measuring 0.8-0.9 suggestive of transplant dysfunction. Serology for Epstein-Barr virus and Cytomegalovirus was negative. Renal biopsy was obtained and was not consistent with either rejection or polyomavirus nephropathy. Patient reported episodes of watery diarrhea. Over the past year, she had painless intermittent diarrhea often requiring hospitalization. A positive stool viral PCR for Norovirus from 6 months ago was discovered on hospital records. Stool studies of C. difficile, Legionella, Shigella, Campylobacter, Salmonella, Cryptosporidium/Cyclospora and Giardia were negative and positive for Norovirus. She was treated with oral immunoglobulin (IG) with a decrease in diarrhea. Her creatinine improved to 1.3.

Norovirus infection may progress to chronic infection after a solid organ transplant. Generally self-limiting, norovirus infection in immunocompromised individuals can lead to prolonged symptoms and viral shedding for many years. Minimal information is available in terms of prevalence of chronic Norovirus infection among solid organ transplant recipients. One study showed a prevalence of 4.6% among solid organ recipients. Of these, 22.8% developed chronic infection, with a median shedding period of 218 days. Currently, there are no approved human antiviral agents that are effective against Norovirus. Treatment using oral IG was extrapolated from its role in management of primary immunodeficiency conditions. In our patient, viral shedding continued but oral IG provided symptomatic relief, decreasing the progression of kidney injury. Physicians should be made aware of this particular presentation and treatment options in renal transplant patients.


Novel Oral Immunoglobulin for Chronic Diarrhea in an Immunocompromised Patient

Background
Post-infantile giant cell hepatitis (PIGCH), also known as syncytial giant cell hepatitis, although a common finding in pediatric cases, continues to be ill-defined with rare disease presentation in the adult population. There have only been 100 reported cases in the last 30 years. Post-infantile giant cell hepatitis is predominantly a histopathological diagnosis, necessitating a tissue sample for the visualization of characteristic giant cell hepatocyte transformation. There is limited literature on the disease process, causes, and treatment success of post-infantile giant cell hepatitis in adults.

Case Presentation
A 41-year-old female with a past medical history of rheumatoid arthritis presented to her gastroenterologist for iron deficiency anemia evaluation and was found to have elevated liver enzymes (AST/ALT). She was asymptomatic with the exception of weight loss. Colonoscopy and fibroscan were non-specific. A subsequent liver biopsy revealed hepatocyte syncytial giant cell change. The correlation of the clinical presentation and histopathology confirmed the diagnosis of post-infantile giant cell hepatitis secondary to rheumatoid arthritis. Interestingly, the patient’s autoimmune hepatitis workup and infectious disease panel were negative. A literature review identified only one case of post-infantile giant cell hepatitis as a secondary manifestation of rheumatoid arthritis. The patient was placed on ursodeoxycholic acid, prednisone, and furosemide, and is currently being managed by hepatology.

Discussion
Our case report aims to bring forth a vignette of post-infantile giant cell hepatitis to spotlight this ill-defined disease and highlight some of the proposed causes, treatments, and laboratory markers. Post-infantile giant cell hepatitis is thought to be a secondary manifestation of other disease processes, including viral, autoimmune, hematologic, or drug-induced injury. It can also be idiopathic in nature. Management of PIGCH largely depends on the underlying mechanisms; thus, treatment is patient-specific. Our case showing PIGCH’s association with rheumatoid arthritis provides valuable insight into the future diagnosis, treatment, and understanding of this rare disease and its association with autoimmune diseases in adult populations.

Post-Infantile Giant Cell Hepatitis Associated with Rheumatoid Arthritis

Background
Percutaneous endoscopy gastrostomy (PEG) tube placement is commonly performed in patients with functional gastrointestinal tracts but inability to maintain adequate oral intake. Mortality due to PEG tube placement is <1%; however minor and major risks exist including infection and intrabdominal organ injury.

Case Presentation
A 35-year-old man with history of Down Syndrome and Type 2 Diabetes was admitted with COVID-19 pneumonia. He initially required intubation and underwent tracheostomy two weeks into admission. Respiratory status stabilized, and he was evaluated for a PEG tube to continue tube feeds. History from the patient’s family member revealed that the patient briefly had a feeding tube as a child. The consulting Gastroenterology service evaluated the patient and did not deem the prior procedure a barrier to PEG tube placement. The patient had a normal upper endoscopy, and a gastrostomy tube was placed via transillumination. Tube feeds were initiated with advancement to bolus feeds well-tolerated. However, one week after PEG tube placement, he reported intermittent chills, myalgias, and fevers up to 103 F with leukocytosis to 18,000/μl. Abdominal exam was notable for slight distention but no guarding or rigidity. CT of the abdomen and pelvis showed the PEG tube traversing the left hepatic lobe enroute to the stomach and a consequent 3-centimeter intrahepatic fluid collection. Patient was emergently taken for laparoscopic revision and drainage of the fluid collection. With operative management and appropriate antimicrobial therapy, his symptoms fully resolved.

Discussion
Liver injury from PEG tube placement is a rare complication with a patient presentation that can range from asymptomatic to critical illness. There are less than twenty cases documented in the literature. Prior abdominal surgery or PEG tube can increase the risk of intraabdominal injury. Awareness of risks associated with the procedure can facilitate early recognition and definitive management of a potentially life-threatening complication.

Rare Complications: Hepatic Injury Following PEG Tube Placement

Stercoral colitis is a rare condition that occurs secondary to the impaction of fecal matter in the colon, leading to distention, bowel wall edema, ulceration, ischemic colitis and ultimately, bowel perforation. Most cases are seen in elderly patients with dementia, chronic opioid users, and patient with neuropsychiatric conditions. Here we present a case of a patient with multiple comorbidities who developed Stercoral colitis.
A 52-year-old female with medical history of Diabetes Mellitus, Hypertension, Chronic Kidney Disease, Bipolar Disorder, on methadone for chronic opioid use disorder that was receiving inpatient care for a left foot osteomyelitis. The patient showed a labile mood and hostile behavior towards medical staff throughout hospitalization. Intermittently refused medical treatment and routine evaluations. She complained of abdominal discomfort but refused to speak and provide further details upon interrogation. History taking and physical examination were limited due to her uncooperative behavior. Laboratory workup showed no electrolyte or metabolic disturbances. Abdominal X-ray was remarkable for changes consistent with severe constipation. Due to persistent abdominal pain, an Abdominopelvic CT scan was performed for further assessment. It showed a distended rectum with fecal impaction and associated stercoral colitis. The patient was educated about complications concerning diagnosis, and treatment options were discussed with the patient. Treatment included daily mineral oil enemas and digital fecal disimpaction. She was reluctant to cooperate with proposed therapy at first. We consulted with psychiatry service to optimize psychiatric medications. With time, the patient became more cooperative and receptive to medical therapy. Fecal impaction resolved, and symptoms improved. The patient was safely discharged to a rehabilitation facility.
Stercoral colitis is under-documented in the medical literature; therefore, awareness of the condition and recognizing signs and symptoms of this potentially fatal condition is imperative. Comorbidities may delay the diagnosis by preventing optimal history taking and masking physical examination. This case also highlights the importance of an interdisciplinary team when caring for a complex patient.

Stercoral Colitis: A feared complication of a common complain.

Background
An allergy to mammalian meat and its derived projects due to an IgE antibody to galactose-alpha-1,3-galactose. In the United States, almost exclusively due the tick bite of Amyblyomma Americanum, The Lone Star tick. The allergy to only be limited to red meat, but the epitope of the antigen has been increasingly found in an increased food. Amblyomma Americanum is found most prevalently in the Southeastern United States. 3-6 hours after eating red meat (e.g. beef, lamb), patients begin to suffer integumentary symptoms such as rash, hives, or swelling, GI symptoms such as vomiting or cramping, respiratory symptoms such as wheezing, SOB, stridor, throat clearing, or hypotension
Case Presentation
We report 3 cases of pediatric patients who present with only non-anaphylactic symptoms of Alpha-gal syndrome. A nine-year old female presented to the peds GI clinic with 4.5 year history of progressively worsening abdominal pain, emesis, and diarrhea with no relief from Prevacid or Lansoprazole. Normal PEx, CMP, CBC w/ diff., EGD, and negative celiac. A14 yo F presented to Peds GI clinic w/ 4 year history of diarrhea, nausea, and abdominal pain, uncontrolled by Ranitidine, Zantac, and Prilosec. Normal US, HIDA Scan PEx, CBC w/ diff, CMP, EGD, negative H. Pylori and pregnancy test. 6 yo M presented to Peds GI clinic with history of chronic, intermittent abdominal pain, constipation, and dyschezia. Eliminated gluten and dairy, which led to transient symptom relief, but did not persist. Normal PEx, CBC w/diff., CMP, TSH, negative celiac. 
Discussion
The patients observed in this study were of varying ages and had a different set of symptoms, whether it be emesis, diarrhea, or constipation, with the only commonality being abdominal pain
Regardless of their backgrounds, when these patients were found to have an elevated alpha-gal IgE test and to go a meat avoidance test, their abdominal pain and most of their symptoms globally resolved. Some of these patients had abdominal symptoms to foods such as ice-cream; carb moiety galactose-alpha-1,3-galactose is present in cow’s and goat’s milk, which can appear as a milk intolerance. These patients took on average at least 2-3 years to diagnose, given that they did not have delayed anaphylaxis.


Three pediatric patients with atypical non-anaphylactic presentations of Alpha-gal Syndrome

Background: 
Pancreatic pseudocysts occur relatively rarely in children as sequelae of pancreatitis. Giant pseudocysts measure over 10 cm in diameter, and pseudocysts 20 cm or over have rarely been reported in children, and optimal management is not clearly defined. We present a case of a child with a giant pancreatic pseudocyst after idiopathic necrotizing pancreatitis, and discuss management and clinical course. 
Case Presentation:
A 12-year-old otherwise healthy male presented with 4-day history of abdominal pain radiating to back, constipation, and vomiting. He was found to have SARS-CoV-2 infection without respiratory symptoms and acute necrotizing pancreatitis. His clinical course was mild. He was treated supportively and discharged after a 5-day hospital course with clinical improvement. 
Three weeks afterwards, the patient developed progressive early satiety, postprandial vomiting, and weight loss. The upper abdomen was distended with a visible, palpable mass. MRI showed a mature pancreatic pseudocyst measuring 20 x 11.3 x 16.1 cm without significant solid internal debris. Endoscopic ultrasound examination (EUS) with cystgastrostomy creation was performed with lumen apposing metal stent (LAMS) placement, and 2.5 L of brown fluid was drained. The patient tolerated the procedure well with abdominal mass resolution during the procedure. The following day, his abdomen was soft and non-tender to palpation with symptom resolution. He was discharged with plan for repeat CT to assess pseudocyst resolution and endoscopic cystgastrostomy stent removal if drainage was complete in 1 month. 
Patient presented 3 weeks after cystgastrostomy with abdominal pain and vomiting. Repeat endoscopy was performed and found stent occlusion with necrotic tissue. He underwent necrosectomy and LAMS replacement with two plastic pigtail stents for prolonged drainage with symptom resolution. Patient is asymptomatic with plans for repeat imaging in 3 months and stent removal if drainage is complete. 
Discussion: 
This case illustrates unusual development of a symptomatic giant pediatric pancreatic pseudocyst after idiopathic necrotizing pancreatitis, requiring intervention rather than conservative treatment. EUS drainage by cystgastrostomy stent insertion is an accepted treatment though few pediatric gastroenterologists are trained to perform this. Therefore, patients and families must travel or transfer to centers with appropriate expertise and resources.

Unusual Giant Pancreatic Pseudocyst Development in a Pediatric Patient after Necrotizing Pancreatitis

Background:
Breast cancer is the second leading cause of cancer mortality, and the most common malignancy in women after skin cancer. Appropriate management of breast problems has significant implications for women’s health. Awareness of potential pitfalls in diagnostic work-ups is critical. In this case we demonstrate how cognitive bias impacted the clinical course of a patient with a breast mass.
Case Presentation:
A previously healthy 45-year-old female presents with weakness, hypertension, hyperglycemia, and a 7-kilogram weight increase within the past month concerning for Cushing’s syndrome. Serum lab studies showed elevated adrenocorticotrophic hormone (207 pg/mL) and cortisol (70.1 µg/dL). After dexamethasone suppression testing, serum cortisol levels remained elevated. 
Brain magnetic resonance imaging was negative for pituitary abnormalities. Abdominal computerized tomography (CT) showed bilateral adrenal hyperplasia. Chest CT performed for evaluation of dyspnea, showed a 2.9 cm anterior mediastinal mass. Core needle biopsy of the thymic lesion identified a T1N1 atypical carcinoid tumor. Subsequent sternotomy and thymectomy was performed for ectopic Cushing’s and plan was for clinical and for imaging surveillance.
A follow-up DOTATE PET CT performed two months later demonstrated a DOTATE-avid breast mass in the upper outer left breast. On ultrasound core needle biopsy of the left breast mass pathology reported triple negative T1N0 invasive ductal carcinoma. After 3-months of adjuvant chemotherapy with Taxotere and Cytoxan, follow-up PET CT showed the breast mass decreased in size, however a new left breast mass was identified. Ultrasound wire-localization was performed to facilitate surgical excision of left breast masses. Surgical pathology for both breast masses revealed neuroendocrine tumors. Subsequent, re-evaluation of the core needle breast biopsy specimen clarified the lesion was metastatic atypical carcinoid.
Discussion:
Despite a recent history of carcinoid tumor, metastatic disease was prematurely excluded from the differential. Our case highlights the importance of prior medical and surgical history in the appropriate diagnosis and management of mammary tumors. Additionally, it highlights the importance of accurate pathology in pre- and post-surgical disease management, and radiology-pathology concordance. Finally, our case reinforces the value of a broad differential in diagnostic work-up.

Atypical Mammary Mass in a 45-year-old Female

Background: 
Small bowel neoplasms account for less than 5% of all gastrointestinal malignancies. Leiomyosarcoma of small bowel is an extremely rare (1.2 cases per million per year) type of tumor arising from smooth muscle which is difficult to diagnose with vague signs and non-specific symptoms that occur late in the clinical course. Intussusception is characterized by invagination of the proximal segment of small bowel into the adjacent distal segment leading to obstruction and in adults it is usually due to a pathological lead point in the intestine such as neoplasm. Here we present a case of intussusception as an unusual presentation of a rare leiomyosarcoma of the jejunum and its valuable, minimally invasive surgical management. 
Case: A 60-year-old diabetic male presented with a three-month history of intermittent abdominal pain, melena, and weight loss. Abdominal CT scan revealed a solid mass leading to intussusception in mid-jejunum with mesenteric lymphadenopathy. Patient underwent diagnostic laparoscopy which confirmed a solid mass within the intussuscepted loop of small intestine with no evidence of metastasis. The involved loop of jejunum and its mesentery containing the tumor were laparoscopically resected, followed by primary intracorporeal anastomosis. Pathologic evaluation revealed a 7.5 cm x 5 cm tumor with clear surgical margins, high mitotic rate, extensive necrosis, and reactive mesenteric lymphadenopathy. The tumor demonstrated immunohistochemical reactivity to Smoothelin, Desmin, Vimentin, Ki-67 with 90% nuclei positivity and focal SMA, consistent with leiomyosarcoma. Postoperative recovery was unremarkable with minimal pain and only three days of hospital stay. 
Discussion: 
Leiomyosarcoma of the small bowel is an extremely rare tumor and often presents late with poor prognosis. These tumors are known for being radioresistant with a high propensity for local recurrence and metastasis. Hence, complete surgical resection is often associated with higher survival and quality of life. The unusual presentation of intussusception in this patient led to early diagnosis and prompt surgical intervention. Total laparoscopic resection of the tumor with intracorporeal anastomosis in this patient was safe, feasible, and offered minimal postoperative pain, short hospital stay, and fast recovery. 


Intussusception as a Rare Presentation of Leiomyosarcoma of Small Bowel

Abstract Title:
Is median arcuate ligament syndrome a differential diagnosis of epigastric abdominal pain?
Background
Median arcuate ligament syndrome (MALS) is caused by the compression of the celiac artery by the tendinous arch of the diaphragm at the T12-L1 level. It is a diagnosis of exclusion in patients with epigastric abdominal pain, weight loss, nausea, or vomiting. It is considered when the workup for epigastric pain is negative after baseline investigations of upper GI endoscopy, CT abdomen, etc. When the diagnosis is unclear despite these investigations, MALS needs to be considered as a differential diagnosis.
Case Presentation
A 32-year-old male patient presented with epigastric abdominal pain for 15 years, aggravated in the past two weeks. The abdominal pain was mainly post-prandial in occurrence with associated nausea. Upper GI endoscopy and ultrasound of the abdomen were non-contributory to arriving at a diagnosis. A CT angiogram suggested by the vascular surgeon revealed stenosis of the celiac artery for a length of 5.1 mm with arcuate angulation and a ‘hooked’ appearance. This was caused by a 5.2 mm thick median arcuate ligament. The patient subsequently underwent the
Ó 2022 American Medical Association. All rights reserved.
‘Median arcuate ligament release procedure’ by laparotomy. Post-operatively, the improvement in stenosis was confirmed with duplex ultrasound.
Discussion
The median arcuate ligament is the tendinous arch that connects the right and left crus of the diaphragm on either side of the aortic hiatus. Formed by the fascia covering the upper part of the psoas major muscle, the ligament is attached medially to the sides of L1 and L2 and laterally to the transverse process of L1. MALS is caused by the compression of the celiac artery by the median arcuate ligament. Current literature proposes two mechanisms for symptoms in MALS – mesenteric ischemia due to arterial compression and celiac nerve compression. MALS is more common in individuals with substance abuse or psychiatric disorders. A thickness of more than 4 mm of the median arcuate ligament and a celiac trunk compression persisting through end- inspiration are considered significant for diagnosing MALS. Treatment involves operative decompression of the celiac artery. It remains to be addressed through upcoming research on the benefit of surgery in MALS.

Mauriac Syndrome: Glycogen Hepatopathy in a Pediatric Patient

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