Coeliac disease in children

You’re at work in your clinic, and this pale and thin-looking boy wanders in with a half-eaten loaf of bread in his hand. He pulls down his trousers and does the single worst smelling poo all over the floor. It’s pale and very oily, and just as he’s finished his legs give way and he falls over, landing right in it. Unfortunately he lands on his front, right on top of his bread, making his tummy hurt.

  • caucasian
  • failure to grow
  • foul smelling faeces
  • steatorrhoea
  • muscle wasting
  • abdominal pain

As he attempts to get back up, he continues to slip and slide, gliding around the room like an ice rink. After a little while he gets tired, and you’re worried because you start to see some blood on your new poo-ice-rink floor, and you think he may have broken his arm in the process of trying to stand up.

  • gliadin protein sensitivity
  • fatigue
  • anaemia
  • osteoporosis/osteopenia 

To try and cheer him up a little, you hand him some toys from Star Wars, and after deb8-ing for a little while he chooses a plastic R2-D(Q)2. While he’s playing you notice a nasty rash over his legs, and so you ask him what his name is in order to call his parents. He says his name is Marsh and his parents can’t come to help him because his mother is pregnant.

  • HLA-B8
  • HLA-DQ2
  • Dermatitis herpetiformis
  • Marsh classification
  • pregnancy complications

Finally you ask why he’s come in today, and he says he thinks his spleen is too small, and he’s broken his toy dIgA (digger).

  • Hyposplenism
  • IgA deficiency

Hopefully this particularly ridiculous scenario will help link some of the features and associations of coeliac disease in your mind. Feel free to change what you will, and the details are summarised below.

The Background

Coeliac disease is a condition in which the small intestine undergoes villous atrophy as the result of a T cell mediated autoimmune sensitivity response to gliadin and other gluten proteins found in wheat. These proteins set off an inflammatory cascade that causes the villi of the intestine to be burned away, reducing the ability of the intestine to absorb the necessary nutrients, and the characteristic features of foul-smelling diarrhoea and failure to gain weight result.

Symptoms

  • Those related to the villous atrophy
    • pale, loose, fatty stools that smell foul
    • abdominal pain and cramping
      • sometimes with distension, though to be due to fermentation in the gut
  • Those related to the malabsorption
    • weight loss
    • fatigue
    • anaemia
      • iron deficiency
      • B12 deficiency
      • Folate deficiency
    • Calcium and vitamin D deficiency
      • osteoporosis
      • osteopenia
    • Rarely – coagulopathy
      • vitamin K deficiency

Genetics

  • Incidence 1/1000-2000
  • very common in caucasians, rare in black/asian populations
  • HLA-DQ2 (95%)
  • HLA-B8 (80%)

Diagnosis

  • History
  • Examination
  • Jejunal biopsy
  • Antibody tests are useful for screening
    • anti-endomysial 
    • anti-gliadin

Pathology

The pathology of coeliac disease is categorised by the Marsh Classification.

  • Marsh stage 0
    • normal mucosa
  • Marsh stage 1
    • Increased number of intra-epithelial lymphocytes (IEL)
  • Marsh stage 2
    • proliferation of the crypts of Lieberkuhn
  • Marsh stage 3
    • partial or complete villous atrophy and crypt hypertrophy
  • Marsh stage 4
    • hypoplasia of the small intestine architecture

Associations

Coeliac disease is linked with a number of other conditions, although it is not clear as to the causal nature of the relationship.

  • IgA deficiency
  • Dermatitis Herpetiformis
  • Growth failure
  • Pregnancy complications
  • Hyposplenism
  • Abnormal liver function tests

Risks

Coeliac disease confers greater risk of:

  • adenocarcinoma
  • lymphoma
    • enteropathy-associated T cell Lymphoma (EATL)
  • ulcerative jejunitis
  • stricturing

Treatment

At the moment, the only known successful therapy for coeliac disease is a gluten-free diet for the rest of the individual’s life.

but…cake

Paediatric headache history

This post is designed to help you remember the sorts of questions you should be asking when taking a history of headache in a child.

Harry gets lots of headaches. In the morning, his headache wakes him up and he vomits all over the bed.

This makes his mother very angry and she smacks him over the head. He doesn’t notice the warning signs that she’s coming, because he has a very stiff neck.

He tries to get out of bed, but his legs have gone all tingly. So he crawls towards the bathroom, but he can’t really find it because his vision has gone all blurry, and the bright bedroom light hurts his eyes.

He goes downstairs to have his breakfast, but it hurts when he chews, and he starts coughing and spluttering because his nose is blocked.

Finally he says he wants to take the day off school because he has a fever his tummy hurts, but when he goes to lie down, the headache just gets worse!

Questions to ask:

  • What does it feel like?
    • Tight band – tension
    • Throbbing – migraine
    • smack in the head – subarachnoid haemorrhage
  • How bad is it 1-10?
    • worst ever – SAH
  • Where is it?
    • band around head – tension
    • unilateral – migraine
    • frontal/occipital – migraine
  • Do you have any ‘warning’ signs that it’s about to happen?
    • aura – migraine
  • Does it affect your vision at all?
    • migraine
  • Do you have any other sensory/movement changes?
    • migraine – children may get abdominal migraines and complain of tummy pain
    • raised ICP
  • Have you noticed if it occurs at a particular time of day?
    • pregnancy
  • Have you had them before?
  • Have you had a fever recently?
  • Have you noticed anything that sets it off?
    • Alcohol
    • Solvents
    • Drugs
    • Menses
    • Medications – are you on any medications?
  • Is it worse when you lie down?
    • Space occupying lesion – raised ICP
  • Have you been suffering from any neck stiffness?
    • meningitis
    • raised ICP
  • Have you had any photophobia?
    • meningitis
  • Have you had any morning vomiting?
    • SOL
    • viral illness
  • Has it woken you from sleep?
    • Migraine
  • Are there any stressors at school/home (emotional angst)
  • Have you had any problems with nasal congestion?
    • Sinusitis
  • Is it worse when you chew?
    • Temporomandibular Joint discomfort
  • Have you had your vision checked recently?
    • do they wear glasses?
    • Intracranial pressure – 6th nerve palsy
    • refractive error headache
  • Have you had any head trauma recently?
  • Have you had any changes in consciousness?
    • Raised ICP

Causes of acute headache in children:

  • Ice cream
  • Febrile illness
  • Migraine
  • Stress
  • Acute sinusitis
  • Meningitis/encephalitis
  • Subarachnoid/intracerebral haemorrhage
  • Medications
  • Benign intractranial hypertension
  • Reflex neuralgia

Types of headache:

  • Tension
  • Migraine
    • with aura
    • without aura
    • complicated
  • Space occupying lesion
  • Other
    • sinusitis
    • TMJ discomfort
    • Medication
    • Refractive error
    • Solvent/drug abuse
    • Benign intracranial hypertension
    • Hypertensive headache

can we stop now?

Intussusception

Here’s a story to help remember some of the details of intussusception. Remember to try and really picture this event, in your garden. If you can use children that you’ve seen or know, it will help make the story stick better. If you can make it even more ridiculous than I have, then go for it – the weirder the better!

Two boys and a girl are playing in the garden at a family barbecue. The boys are 6 months and 18 months old, and the girl is 12 months old.

  • Typically affects children between 6 and 18 months
  • Boys are twice as affected as girls

They’re all dancing, and doing a special dance where they have to jump as high as they can, and bring their knees up to their chest. As they’re doing this, they all turn completely white and start rolling around on the floor complaining of pain in their abdomen.

  • Child complains of abdominal pain
  • Often characteristically draws knees up to chest
  • Pale
  • Characteristic ‘Dance’s Sign’ (retraction of right iliac fossa)

One of the boys then does a poo. Unfortunately all he’s been eating is jelly, so he blasts jelly all over the other two. They both vomit, but since they’ve just been eating sausages from the barbecue, there’s now jelly and sausages all over the garden.

  • Vomiting
  • Blood-stained faeces (like jelly)
  • Sausage like mass palpable in the lower right quadrant

The children then all start screaming, but they’re screaming at such a high pitch that it’s causing all the windows to smash, so you then have to go on a trip to Target to buy replacements.

  • Ultrasound is the primary imaging modality
  • Characteristic ‘target’ sign seen

The Background

Intussusception is a medical emergency in which part of the bowel collapses into the adjacent part like a telescope (or extendable selfie-stick for those born after 1994). It can lead to obstruction and perforation, and then sepsis and shock.

The reason it’s dangerous is because the segment of bowel that is drawn in can have its blood supply cut off, and become necrotic and then perforate. The ischaemic bowel loses its mucosa into the bowel lumen, and this forms the characteristic ‘red jelly’. In reality, any type of blood in the stool should have intussusception on the differential diagnosis, especially if the child is between 6 and 18 months.

Causes

A variety of things can cause intussusception, although how it is that they do it isn’t well understood. It is thought that enlarged lymphoid tissue after an infection may play a role, and this would also explain why intussusception is relatively rare in the first three months of life, while the infant is still protected by passive immunity.

The different types include:

  • ileocolic (90%)
  • ileoileocolic (less common)
  • ileoileal (rare)
  • colocolic (rare)

Diagnosis

The diagnosis is made based on:

  • clinical examination
    • PR exam can be very helpful in children
  • history
  • Dance’s sign
    • emptiness in the lower right quadrant
    • sausage shape in right upper quadrant
  • Ultra-sound Scan
    • diagnostic imaging modality of choice
    • gives a characteristic target shape

If you google intussusception you get some awesome radiographs

I can’t put any on here because I don’t own them

sad face