Education Committe Clinical Challenges

Clinical Challenge 1:

  A 16-year-old boy, whose mother is an endoscopy nurse in your hospital, has been referred to your clinic by his General Practitioner. He reports “very embarrassing loud noises in the stomach” that are worse after eating. He has no abdominal pain, his appetite is good, and he feels well without any other symptoms. On questioning, he admits that he has lost about 12 pounds in the past six months, which he attributes to skipping meals because of a very busy schedule. He also reports an intermittent, sudden feeling of “warmth” and is concerned about his thyroid gland, especially because his mother had Graves’ disease. Physical examination reveals mild periumbilical tenderness and hyperactive bowel sounds. Rectal examination is normal, but he is heme occult positive.  Laboratory testing that was performed by GP in a different hospital laboratory revealed all levels including thyroid-stimulating hormone to be normal, but the patient wonders if there was a laboratory error. You have performed an upper GI endoscopy and ileo colonoscopy and these were normal.

  1. What is the diagnosis?
  2. Describe the diagnostic work up for this condition?

    Answer to Clinical Challenge 1

 


Clinical  Challenge 2:

  A 12 year old boy has attended the emergency department many times in the last 6 months with h/o bizarre behaviour, disorientation and excessive sleepiness. He got better after a period of observation in the observation unit and intravenous fluid therapy. He is well known to the gastroenterologists for the problem of short bowel syndrome. He had multiple bowel surgery in the neonatal period for multiple jejunal atresia and necrotising enterocolitis. He had resection of parts of his jejunum and remaining jejunum is anastomosed to ileum.  His parenteral nutrition was stopped by his first birthday. He is on an unrestricted diet with nutritional supplementary drinks, which he takes most days of the week. There are no specific gastrointestinal symptoms and his growth continues to remain excellent. He is not on any medications. His parents are GP’s in the region and there is no family history of neuropsychiatric conditions.

  Physical examination done in these admissions did not show any specific clue to the diagnosis. He was reviewed by neurologists in the outpatient and there were no abnormalities in examination. CT head done in emergency department and also the MRI head done as requested by the neurologists were normal. His blood tests done at the time of emergency admission and also in between when he was well showed normal haemoglobin, platelets and white cell count, renal and liver function tests, blood gas, ammonia. Nutritional blood tests showed normal copper, zinc, selenium, ferritin, folate, vitamin B12.

What is the diagnosis?

Answer to Clinical Challenge 2


Clinical Challenge 3:

  A 15 year old Caucasian boy was referred to you by his GP with complaints of worsening abdominal distension over the last 6 months. The boy complained of increased tiredness in the last few months; however he has attributed this to the school work. There are no other reported symptoms. He and his parents were in Egypt for three years and they have moved back to the UK 6 months ago because of the political unrest in the region. His father is an engineer in the oil industry and mother is a teacher. 12 year old sister is fit and well. There is no family history of any significant illness. There is no history of any significant illness in the past and the boy has received hepatitis B vaccination prior to the relocation to Egypt.

  On physical examination, he has mild pallor without any clubbing or jaundice. Abdomen was distended. Firm hepatomegaly (up to the level of umbilicus) was noted on palpation, spleen was enlarged and palpable up to the level of umbilicus. No feature of portal hypertension was evident on examination.  Other system examination was normal.

  Blood tests showed normochromic normocytic anaemia (Hb 92) with platelets 68, WBC 10.7, N 2.5, L 2.8 and eosinophils 5.2. Liver function tests were normal including clotting profile and albumin. US abdomen showed enlarged liver with coarse echo texture, splenomegaly and small mesenteric and hilar lymphadenopathy. Doppler studies showed flow changes consistent with mild portal hypertension. Hepatic veins and IVC, SVC are reported as normal. CXR was normal. Viral serology including hepatitis viruses and HIV were negative. Blood films for malaria were negative three times. Tuberculin test was negative. Blood tests and urine tests for storage disorders and Wilson’s disease were negative. Genetic analysis was negative for alfa1 anti trypsin deficiency. 

Some more information becomes available:
A bone marrow examination was done which did not show any features of leukaemia or myelodysplasia.
On specific questioning, the boy said that he gets intermittent diarrhoea, but he has not noticed any blood or mucus in the stools.
OGD showed one grade 1 oesophageal varix, stomach was normal. Diffuse patchy redness was noted in duodenum. Duodenal biopsies showed preserved villous architecture, but nonspecific chronic inflammatory changes were noted in the lamina propria. No granulomas were seen.
Liver biopsy showed peri-portal fibrosis, neo vascularisation of portal venous system and granulomas.
Repeat Mantoux test was negative; T- spot result is awaited.

  1. What is the diagnosis?
  2. What is the treatment of the condition?

    Answer to Clinical Challenge 3

Clinical Challenge 4:

  A 16-year-old girl was admitted via emergency department with abdominal pain, nausea, and vomiting. She is known to the gastroenterologists with a diagnosis of Functional Abdominal Pain. She had a normal upper GI endoscopy, ileo- colonoscopy, MR enterography and a video capsule endoscopy in the last 6 months. She has been prescribed peppermint oil capsules, which she takes erratically. She is also on oral contraceptive pills for menorrhagia. She had reported that the pain got worse in the past two days prior to the admission. She has reported history of diarrhoea without any mucus or blood and abdominal bloating in the last two days.
  Examination did not show any pallor, jaundice or clubbing. Abdominal examination did not show any features of obstruction or peritonism. She was kept nil by mouth and started on IV fluids, IV omeprazole and IV morphine. Blood tests done at the time of admission showed normal full blood count, liver and renal function tests, amylase and normal CRP. Urine pregnancy test was negative. CT abdomen was organised by about 4 hours of admission because of severe abdominal pain, which showed massive swelling of the small bowel without any other abnormalities. The plan by the surgical team was to closely monitor and arrange a laparotomy if the pain did not improve. Abdominal pain improved in the next 24 hours and an US abdomen done on day 3 of admission shoed normal small bowel without any oedema.

What is the diagnosis?

Answer to Clinical Challenge 4


Clinical Challenge 5:
 

  A 15-year-old girl had emergency upper GI endoscopy when she had presented with 3-week history of worsening dyspnoea on exertion and passing dark stools. She is known to the Diabetic team in the hospital with Type 1 diabetes mellitus, which was diagnosed about 8 years ago. The diabetes control was not very good for a long period of time and she is on intermittent insulin regime.  She is awaiting an appointment for elective upper GI endoscopy following a referral from the diabetic team because her annual monitoring blood tests showed elevated coeliac serology (TTG 45). She did not have any specific gastrointestinal symptoms.
  Physical examination showed pallor without any clubbing or jaundice. There were no features of heart failure.  Abdomen was soft without tenderness to palpation. No mass were palpable on abdominal examination.  Blood tests showed severe anaemia with a haemoglobin of 53 g/L and a haematocrit of 18.2%. The iron profile revealed an iron of 46 μg/dL, and transferrin saturation of 11.7%. Platelet count and clotting profile, renal and liver function tests and amylase were normal. The patient was kept nil by mouth and started on IV fluid and IV Omeprazole. She had received one unit of blood transfusion prior to endoscopy.
  An acute gastric ulcer was noted within a dependent portion of the fundus. The ulcer was not actively bleeding and had an abnormal shiny metallic quality; as if it were stained.  The apparent staining did not wash with repeated flushing. Rest of the appearance of stomach and oesophagus was normal. Duodenal villi appeared blunted. Biopsies were taken from edge of the gastric ulcer, gastric antrum, gastric body and duodenum.

Some more information is available on this case.

She had reported to GP about dyspepstic symptoms and abdominal fullness few months ago and GP has started her on Omeprazole, Domperidone and iron supplementation. She was not very regular in taking these medications and her symptoms did not improve significantly. She had remained well during her inpatient stay. There was no recurrence of GI bleeding. Her duodenal biuopsy confirmed coeliac disease. Her gastric biopsy results are available.

What is the cause of this patient’s gastric ulcer?

Answer to Clinical Challenge 5


Clinical Challenge 6:

  You have been asked to review an 8 month old male infant who is admitted under general paediatric team.  He was admitted because of a blistering eruption of palms and soles noticed in the last week which then became widespread in the last couple of days. In the last 24 hours, baby is refusing his feeds and milk and also had few episodes of vomiting which appeared coffee ground in colour. On examination baby appeared pale, but haemodynamically stable. The baby was afebrile throughout the duration of hospital stay and parents confirmed that there was no fever, foreign travel or contact with any unwell persons in the last few months. The skin had multiple erythematous patches and small, fluid-filled blebs on both hands and feet. Blood tests showed haemoglobin 61 with normal platelets, WBC counts and differentials. Clotting screen was normal. Liver function, renal function tests and CRP was normal. Virology results are awaited. The infant was started ion intravenous fluids and IV Omeprazole. You have arranged an urgent OGD which showed friable oesophageal mucosa with 2 bloody, fluid-filled blebs ranging from 2 to 4 cm in diameter. More blebs developed on endoscopic contact with the oesophageal mucosa. Biopsies of one of these lesions resulted in “peeling’’ of the mucosa. The rest of the endoscopic appearance was normal.

What is the diagnosis?

Answer to Clinical Challenge 6


Clinical Challenge 7:

  A 16 year old boy was referred to your clinic with one month history of mild fresh rectal bleeding. Stools were reported to be formed and there was no increased frequency of bowel opening. There were no other gastro intestinal symptoms. The boy did not report any history of weight loss or mouth ulcers. He is very athletic and a keen swimmer and footballer. He was selected for the under-16 football team from his school and they have played in a tournament in Brazil earlier this year.  He also had no significant past medical history and was not on any regular medications. His grandfather had cancer of the prostate; however no colonic polyposis or bowel cancer was reported. On examination his abdomen was soft and non tender with no palpable masses. Blood tests done by the GP showed normal full blood count, renal and liver function tests and normal CRP and ESR.

  After the consultation, the boy had come back to your room alone and told you that he is very much worried about cancer. He also reported history of noticing blood in the semen for the last five months. He also told that he drinks alcohol time to time with his friends; however his parents do not know this. There is no history of smoking. Urine examination showed WBC and nitrites, but the culture did not grow any organism. A semen culture was negative as well. At colonoscopy, patchy cobblestone mucosal inflammation was seen in the rectum, no further mucosal abnormalities were seen in the terminal ileum or in the remaining parts of the colon. Biopsies from the rectum were diagnostic.

What is the diagnosis?

Answer to Clinical Challenge 7


Clinical Challenge 8:

  A 16 year old girl was referred to your outpatient department with 3 months history of abdominal pain, nausea and vomiting. She has told you that she had unintentional weight loss of about 3-4 kg in the last few months. She has been started on Omeprazole and Gavisgon by her GP about 4 weeks ago, however there were no significant improvement of the symptoms. She has reported that she smokes about 4-5 cigarettes a day and she consumes alcohol time to time. She is sexually active and is on oral contraceptive pills for the last two years. There were no other specific gastro intestinal symptoms. There was no history of any significant illness in the past. Physical examination was unremarkable other than mild pallor. The initial blood tests showed Hb 9 with normal platelets and white cell counts, CRP, amylase  liver and renal function tests. OGD showed marked hypertrophied gastric body folds with multiple ulcerations in the gastric body and antrum. Oesophagus and duodenum appeared normal.  US abdomen raised a suspicion of stomach wall thickening. CT abdomen showed wall thickening at the great curvature of stomach with regional lymphadenopathy. No other abnormalities were noted. Following this a Mantoux test, chest X ray and T-spot test were done- all negative for Tuberculosis. HIV screen was negative.

What is the diagnosis?

Answer to Clinical Challenge 8


Clinical Challenge 9:

  A 12 year old boy had undergone upper GI endoscopy and colonoscopy after he was reviewed in outpatient department with complaints of abdominal pain and varying bowel habits. Upper GI endoscopy was normal. The registrar had palpated a mobile hard mass by digital examination prior to colonoscopy. Peri anal area inspection was normal. Colonoscopy was normal. MRI abdomen was arranged which showed a low intensity mass with a central high intensity area in the pelvic cavity. Blood tests and biopsies from upper GI tract and colon were normal. Child had undergone a laparoscopy and this ‘benign’ mass was removed.

What is the most likely diagnosis?

Answer to Clinical Challenge 9


Clinical Challenge Number 10

A 16-year-old boy was transferred from a district general hospital with few days’ history of jaundice, ascites and hepatic encephalopathy. 7 years ago, he had developed idiopathic haemolytic uremic syndrome leading to end stage renal failure, despite treatment with plasmapheresis and steroids. Renal transplantation was performed 5 years ago. Immunosuppression consisted of Tacrolimus, Mycophenolate mofetil, and prednisolone. Patient had good adherence to treatment and Tacrolimus levels were in the range his transplant team wanted to maintain.  There was no evidence of liver disease prior to the renal transplant. About 9 months after renal transplant,  the patient developed anicteric chronic hepatitis with consistently elevated ALT and AST ranging from 90 to 470 U/L, and 60 to 400 U/L, respectively .Serologic tests for hepatitis B , hepatitis C , hepatitis  E , Epstein–Barr virus, and cytomegalovirus, autoimmune serology as well as blood  HBV and HCV PCR analyses were repeatedly negative. Serum concentrations of α1 antitrypsin, copper, and caeruloplasmin were normal. Liver biopsy showed pericellular fibrosis with incomplete cirrhosis as well as minimal steatosis and mild inflammatory activity suggesting underlying steatohepatitis. Iron and copper concentrations in the liver tissue were normal. Right ventricular failure, constrictive pericarditis, and Budd-Chiari syndrome were ruled out. Despite intensive therapy the patient lapsed into hepatic coma and died before liver transplantation could be performed.

What is the most likely diagnosis?

PS: This is not a real case; hence we are circulating this via email to all our members. Even though this activity is mainly for our trainees, a multi-disciplinary approach to solve this clinical challenge is very welcome.

Answer to clinical challenge no 10

Rafeeq

Chair of Education Committee

BSPGHAN


Clinical Challenge Number 11

A 16 year old boy was referred by the inpatient general paediatric team for gastroenterology opinion. The boy had 6 month’s history of fever, decreased appetite and weight loss. The boy did not report any other specific gastrointestinal symptoms. The boy had arrived from Bangladesh along with his parents two months ago. The investigations done in Bangladesh for the same complaints were non-diagnostic. He was treated empirically in Bangladesh with 4 drug anti-Tuberculous treatment without any symptom relief. Malarial screening was negative. Initial examination showed low grade fever, tachycardia, poor nutritional status and hepatosplenomegaly. Chest X-Ray and Mantoux test were negative. Quantiferon test results were awaited. Blood test were unremarkable other than Bilirubin 85 ( direct bilirubin 60), AST 58 U/L, ALT 50 U/L, albumin 29 g/dL, ALP 312 U/L, and GGT 88 U/L. HIV, ANA, and serology for Hepatitis B, C, E & A were negative.  US abdomen showed hypoechoic splenic lesions, bilateral adrenal enlargement with calcification, and enlarged para-aortic nodes. While remaining in hospital, the boy had two episodes of melena. Upper GI endoscopy showed a sinus in the duodenum which was seen to communicate with the right adrenal gland on CT abdomen. Biopsies of the sinus wall were diagnostic and the treatment started based on this result was successful.

What is the most likely diagnosis?

What is the treatment of this condition?

PS: This is not a real case; hence we are circulating this via email to all our members. Even though this activity is mainly for our trainees, a multi-disciplinary approach to solve this clinical challenge is very welcome.

Answer to clinical challenge No 11

Rafeeq

Chair of Education Committee

BSPGHAN