Current Grey Cases - Ram's MRCP Teaching

A 14 year old boy presented with a 3 day history of abdominal pain. He had started the week with a slight temperature and then gone on to have gradually increasing lower abdominal pain. For the past 24 hrs he had also noticed loose stools with slime. There was no blood in the stools and he did not vomit. His appetite had gone down to the extent he had hardly eaten anything for 2 days.

In the past year, he had had a couple of episodes of diarrhoea with similar symptoms which resolved with no specific treatment within a week. He was an ex-premature infant born at 28 weeks and had been in home oxygen for a year after discharge from SCBU. He took Salbutamol and Beclomethasone inhalers for asthma, was on ferrous fumarate for the past 6 months and had epilepsy for which he took Epilim 300 mg bd. He was said to eat very poorly even when well and was under the dietetic department for small size. He went to a normal school and was beset with problems there due to his behaviour. He had 2 well siblings aged 12 and 10. There was no-one in the family with gut problems as far his mother could remember.

On examination, he was febrile. T=38 C, pulse 100/min, he was mildly dehydrated and slightly pale looking. Weight 35 kg Height 160 cm. There was no icterus, no lymphadenopathy and no oedema. He had mild tenderness in the lower abdomen on deep palpation. No abdominal masses were present and renal angles were free. Other systems were normal.

q1. Further examination findings from the following systems would be useful :

Hb 9.8, WCC 14.7 neutro 10.8, Platelets 587. Na 138, K 4.6, Urea 3.6, Creatinine 36. Total Bil 19, AST 23, GGT 34, ALP 134, Protein 57, alb 35. ESR 64 mm/hr, CRP 109 (normal <10)

A 13 year old girl was admitted with increasing jaundice for 3 days. She also had severe abdominal pain on the right side which had worsened in a few hours. Her mother had measured a temperature of 40 C at home on a couple of occasions and seemed concerned that her daughter looked very ill. At the time of admission, she had been vomiting profusely and had not passed any urine for a day. There was no rash, no seizures and no diarrhoea.

She was known to be a patient with hereditary spherocytosis (with a family history of her father and grandmother involved). In the past she had had multiple episodes of jaundice and anaemia with infections; her mother had assumed the same until the high fever and worsening state prompted referral. She also had epilepsy and was on Sodium valproate for the past 3 years with no further problems. In the last few days, she also had a week of erythromycin for a throat infection from the GP which was due to finish in a couple of days. She was fully immunised for her age and went to a normal school.

On examination, T 40 C, pulse 140/min, BP 100/80 mm Hg, SpO2 98% in air. She looked deeply icteric, had bilateral cervical lymphadenopathy and was moderately dehydrated. A 5 cm spleen and a 4 cm liver were palpable. There was no ascites. She complained of pain around the right hypochondrium. A grade 3 systolic murmur was heard in the left parasternal area. Examination of other systems was unremarkable.

Hb 8.8, WCC 23.8 neutro 19.7, platelets 453. Na 137, K 4.3, Urea 7.6, Creatinine 97.

Total Bil 189, conjugated fraction 125. Protein 69, alb 35. AST 89, ALP 985, GGT 100.

A previously well 13 month old baby presented with sudden onset of fits. By the time the infant had arrived in Casualty, he had been fitting for 20 min. After two doses of rectal and a single dose of iv diazepam, he stopped and was admitted to the ward. He had been unwell with a temperature and diarrhoea for the past couple of days, had not drunk much fluid except sips of water and had not passed any urine for 12 hours or more. The mother described the stools as 'profuse, loose and slimy' numbering 10-12/day. She had not seen any rash and he had not been vomiting.

In the ward, he continued to have seizures and was given further diazepam iv as well as a loading dose of phenytoin.

He had a fairly uncomplicated past history and was not on any medication. His uncle had returned from Spain recently and had been ill with diarrhoea which was settling.

q2. What further investigations are needed to come to a diagnosis? Name three.

After a 2 week history of not weight bearing on the right leg, a 3 year old boy's parents decided to bring him to hospital to be seen. He had otherwise been well with no fever or illness. He had been eating as before and had no cough, vomiting or diarrhoea. There was no preceding history of a viral illness or of trauma. On examination, he had no signs of infection and no musculoskeletal signs in any joints including his rt. hip and knee. However everytime he was put on the ground to walk, he would cry and ask his mother to lift him up. No neurological signs were found.

Results: Hb 11.8, WCC 6.8 neutro 5.6, plat 477. Na 138, K 3.6, Urea 5.3, Creatinine 56. ESR 10 mm/hr. CRP 6 (normal < 10). Liver functions normal.

He was discharged with a provisional diagnosis of an irritable hip and followed up in the outpatient department. He however continued to limp and gradually became more miserable and clingy. After a period of 3 weeks, he started limping on the left leg as well and wanted to be carried all the time. He stopped eating and became more lethargic. He was re-admitted for further workup and it was also noticed that he started developing temperatures upto 38 C on and off.

Examination: T 38 C, pulse 100/min, rr 24/min, BP 120/80. No pallor, icterus and lymphadenopathy. No abdominal masses were palpable including liver or spleen. Examination of CVS and RS was normal. There was no arthritis and CNS was normal as far as could be elicited.

Further results: Hb 10.2, WCC 8.4, plat 482. Na 137, K 3.7, Urea 4.5, Creat 58. ESR 90 mm/hr. CRP 190.

A 13 year old boy with Cystic fibrosis was admitted with a 3 day history of poor appetite and vomiting. This had started quite abruptly and now he was vomiting bilious fluid roughly 10 times a day. He had not been to the toilet for a week which was quite usual for him; he had been on Lactulose on and off for constipation in the past. He had passed less urine than usual and by the time of admission, he was extremely thirsty and complained of a dry mouth.

He had been diagnosed with CF at birth (with meconium ileus) and currently was on a long list of medications including Insulin (mixed 30/70) 18U am and 9 U pm, Colomycin nebs 1 MU bd, Flucloxacillin 125 mg bd, Creon capsules (pancreatic enzymes) 6 caps with each main meal and 4 with smaller meals, Vitamin supplements, Salbutamol nebs and Budesonide nebs. He was followed up roughly 6 monthly in a joint CF clinic and was noticed to be a poor attender. His last chest Xray was suggestive of extensive bilateral bronchiectasis and he was recently diagnosed to be diabetic on an annual visit. There was no other medical problem however except his occasional constipation and the need for Lactulose on and off.

On examination, he was afebrile. Pulse rate 110/min, rr 26/min, BP 110/86 mm Hg, CFT 3 sec. His weight was on the 25th centile, height 75th centile. He had dry mucous membranes and sunken eyes. His abdomen was slightly distended, bowel sounds were exaggerated and a tender mass was palpable in the right iliac fossa. Rectal exam showed some soft faeces and no blood or mucus. Neither liver nor spleen were felt and genitalia were felt to be normal.

ANSWERS

Rectal examination

Oral cavity

Fundus examination

Nails

Genitalia and perianal area

Campylobacter infection

Crohn's disease

Ulcerative colitis

Irritable bowel syndrome

Coeliac disease

Examination of the rectal area will reveal evidence of inflammation and tenderness typical of a colitis. Oral ulcers are seen with Crohn's disease as are anal tags and fissures. The likely diagnoses cover inflammatory bowel disease because of the high ESR and CRP and recurrent episodes of mucusy stools and small size with an iron deficiency anemia; Campylobacter infection superimposed on a nutritional anemia (note poor diet) due to the short history (3 days only) and raised CRP/ESR. Coeliac disease would present with more long-standing loose stools and a distended abdomen. There would also be no short history of abdominal pain with raised ESR/CRP. Irritable bowel syndrome presents with recurrent abdominal pain and diarrhoea without weight loss or systemic upset.

Acute cholecystitis

Acute cholangitis

Infectious mononucleosis

Drug induced hepatitis

Cirrhosis of the liver

The jaundice suggests a hepatitis or biliary obstruction. This would not be a feature of cholecystitis. The acute history suggests against cirrhosis. The high conjugated fraction with fever and the setting of a child with a hemolytic anemia (possible pigmentary biliary calculi) suggests an acute cholangitis from a gall stone. Note that there is relatively mild elevation of AST as would be expected if Inf Mono was the diagnosis.

3. SIADH, a low sodium intake (water only) coupled with excess sodium losses from stool. Lumbar puncture, stool and blood cultures are essential investigations to make a diagnosis.

Systemic onset juvenile arthritis

Nephroblastoma

Leukemia

Osteosarcoma

Neuroblastoma

Blood film, bone marrow aspirate, abdominal ultrasound scan and urinary VMA/Catecholamine estimation.

A macular rash is typical of systemic onset JCA in most cases. Osteosarcoma is not usually bilateral and would present with a swelling.

5. Distal Intestinal Obstruction syndrome (DIOS). Management with laxatives and fluid hydration, use of N acetylcysteine and lavage with balanced electrolyte solutions are useful.

DIOS is a typical disease seen in adolescents and adults wth CF due to sticky mucofeculent material causing obstruction at the terminal ileum. Inadequate pancreatic enzyme supplements are blamed, though there is no definite etiology established.