Category: Paediatrics

Coeliac disease in children

unicyclemedicLeave a comment

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

unicyclemedicLeave a comment

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

unicyclemedicLeave a comment

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

Poop demons

unicyclemedicLeave a comment

Babies scare me, if I’m honest. There’s no way 10 billion neurons could genuinely be that cute and uncoordinated. I feel they’re hiding something. Kinda like how Jar Jar turns out to be a Sith Lord #spoileralert

However despite a wary respect for these tiny poop-demons (herein referred to as PD), as a medical student and doctor, people will shove their PD in front of you and ask whether it’s normal, and you’re expected to say something a little more informed than ‘ew no’.




literally every baby ever






Developmental milestones are something I found really tricky to learn, and so I wanted to devise a way of making the information more memorable. There are a lot of milestones and average ages of accomplishment, as well as ‘limit ages’, at which you’d start to pay attention if the child hasn’t started doing them yet. I reckon it’s not massively useful to learn each in isolation, since in reality you’re going to have to determine whether said PD is performing adequately in all departments. What I figured is most useful is to have a few ‘model babies’ at a few key ages, to keep in mind, and see if the kid in front of you is more or less skilful than the model. The best way to do this is to actually see real babies – I know, terrifying – to use as your comparison points. However if you don’t want to/are too scared/don’t like going outside, then the following descriptions might help anchor them in your mind a little better.

The story of the psychopath poop demons and their quest for world domination

Poop demon #1

PD1 is pretty useless to be honest. At a solid 6 weeks, he hasn’t exactly put much effort into doing much other than eating, pooping and screaming. He can’t do many evil things yet, so he spends his time trying to inconvenience you, and unsettle you with inappropriate eye contact.

  • He holds his head up – important for holding eye contact while pooping – it shows dominance
  • He follows objects visually – so he can continue to maintain this eye contact while you back away in fear
  • He smiles – to demonstrate his enjoyment of this socially awkward interaction

Please see this terrible video to get an idea of what I mean

Poop demon #2

PD2 is considerably more accomplished than baby number 1. At 6 months, he’s had some real experiences in life, and is now able to:

  • Sit upright, although a little slumped over – for vertical pooping
  • Grab things – to begin destroying the things you love
  • Put food in mouth – to fuel the pooping habit
  • Coo and babble – communicating to his overlord in demon-speak

Poop demon #3

PD3 has developed several new skills at the ripe old age of 12 months, including some murderous tendencies. This little horror story is what made her famous:

Baby number 3 unsteadily walks into the room, occasionally using pieces of furniture to keep her balance. In her pincer-like hands she’s gripping her trident, which she’s transferring from hand to hand while laughing like a maniac. She mutters a few words, but these are not the usual ‘mama’ and ‘dada’ that you’re used to hearing, these words sound evil…

She takes a menacing sip from her infamous sippy cup, and waves bye-bye before sending you to your doom.

These 12 month olds are infiltrating our society, ready to pounce. Do not trust them


https://www.youtube.com/watch?v=eDaejfINVg4



Poop demon #4

PD4 is now 18 months old. He has grown out of his petty murdering phase and is now intent on world domination. He is massively aided by his ability to walk more steadily, and he has mastered the concept of making seemingly incoherent marks on a piece of paper with a crayon (actually demon writing). He can say a few more of your pitiful human words, and humours you by pointing at his nose when you ask him to, but ever since he gained the ability to feed himself with a spoon his need for power has become worryingly apparent, and he’s begun prepping his teddies for revolution.

Another laughably terrible video

The final Poop demon #5

At 2-3 years of age our PD is on the verge of taking over. However she’s realised she cannot do it alone, so she has begun collaborating with her fellow PDs, taking turns to act out their diabolical plans with dolls and bricks. Now that she can control when she poops during the day, she has much more time in the day for evil-doings, and is able to give commands using a few simple phrases. (usually ‘kneel to your overlord’). She’s been building towers out of six blocks and gleefully watching it crash to the ground.

Here is one of her evil co-conspirators in an elaborate distraction exercise, while she steals cookies from the cupboard:

Remember – they’re not as innocent as they look.

The milestones can be broken down into four main categories:

  1. Gross Motor
  2. Fine motor and Coordination
  3. Language and Verbal
  4. Socialising and Behaviour

Simple enough.

The tricky bit is remembering the average ages at which each bit of the development is achieved:

Gross motor:

  • newborn – limbs flexed, lying supine, with marked head lag on pulling up
  • 6-8 weeks – can lift head to 45 degrees when prone
  • 6-8 months – sits without support (6m rounded back, 8m straight back)
  • 8-9 months – crawling
  • 10 months – cruising around furniture
  • 12 months – walks unsteadily with a broad gait
  • 15 months – walks steadily

Fine motor and coordination:

  • 6 weeks – turns head to follow moving object
  • 4 months – reaches for toys
  • 4-6 months – palmar grasp
  • 7 months – transfers toys from one hand to another
  • 10 months – mature pincer grip
  • 16-18 months – makes marks on paper with pen/crayon
  • 14m – 4 years – Building towers
    • 18 months – 3 blocks
    • 2 years – 6 blocks
    • 2.5 years – 8 blocks/makes a train shape
    • 3 years – copies bridge
    • 4 years – copies stairs
  • 2-5 years – drawing (6m earlier if allowed to copy)
    • 2 years – line
    • 3 years – circle
    • 3.5 years – cross
    • 4 years – square
    • 5 years – triangle

Language and Verbal:

  • newborn – startles to loud noises
  • 3-4 months – coos and laughs
  • 7 months – turns to soft sounds
  • 7-10 months – first words/sounds to indicate parents
  • 12 months – 2-3 words other than mama/dada
  • 18 months – 6-10 words, can demonstrate 2 body parts
  • 20-24 months – simple phrases
  • 2.5-3 years – consistent 3-4 word sentences

Socialising and Behaviour:

  • 6 weeks – smiles responsively
  • 6-8 months – puts food in mouth
  • 10-12 months – waves bye-bye, plays peek-a-boo
  • 12 months – drinks from cup with two hands
  • 18 months – holds spoon and gets food safely to mouth
  • 18-24 months – mimics feeding pets/symbolic play
  • 2 years – dry by day, pulls off some clothing
  • 2.5-3 years – plays with others, takes turns

Then we have the so-called ‘limit ages’, when children should have achieved the given milestone:

Gross motor:

  • Head control – 4 months
  • Sits unsupported – 9 months
  • Stands independently – 12 months
  • Walks independently – 18 months

Fine motor and coordination:

  • Fixes and follows visually – 3 months
  • Reaches for objects – 6 months
  • Transfers – 9 months
  • Pincer grip – 12 months

Language and verbal:

  • Babbles – 7 months
  • Consonants babble – 10 months
  • 6 words with meaning – 18 months
  • Joins words – 2 years
  • 3-word sentences – 2.5 years

Social behaviour:

  • Smiles – 8 weeks
  • Fear of strangers – 10 months
  • Feeds self – 18 months
  • Symbolic play – 2-2.5 years
  • Interactive play – 3-3.5 years

Well done on getting this far, you’ve earned this

Meningitis

unicyclemedicLeave a comment

Meningitis is a significant medical emergency and it’s important that you can spot it rapidly, as the mortality associated with bacterial meningitis is already 20% in those that receive adequate treatment, so delay is only going to make it worse.

The key signs are widely known:

  • Fever
  • Headache
  • Neck Stiffness
  • Photophobia
  • Altered consciousness
  • Non-blanching purpura

Here I’ll run through the differentials to consider, the likely organisms and first line treatments, as well as what to look for when interpreting a lumbar puncture of a patient with suspected meningitis.

Immediate actions

If a patient comes in with a fever and altered mental status, you should be thinking about bacterial meningitis as your biggest concern. So use the sepsis six

Give three

  • oxygen
  • fluids
  • antibiotics
    • IV ceftriaxone – broad spectrum against gram + and –
    • Ampicillin – Listeria
    • Vancomycin – Cephalosporin-resistant streptococci

Take three

  • blood culture
  • lactate
  • urine output

However your diagnosis is only confirmed after you have received the blood cultures back from the lab, so what should you do in the meantime?

Your differential for altered mental status and fever include:

  • Bacterial meningitis
  • Viral meningitis
  • Viral encephalitis (usually HSV)
  • Toxoplasmosis and cysticercosis (usually in IV drug users and endocarditis)
  • Brain abscess
  • Subarachnoid haemorrhage
  • Ruptured aneurysm 

The things to check first are the things that are going to kill your patient within minutes, before you can get any imaging or lab results back:

  • oxgen
  • ischaemia

So check their sats, give oxygen as part of your sepsis six and order an ECG.

The next thing to worry about is blood glucose – a very common cause of altered mental status, so do a glucose test.

Next, you’re thinking about slightly longer term processes, such as intracranial haemorrhage, that will kill your patient, but you need to confirm before you manage them. So you can send your patient for a head CT, which should show you any evidence of haemorrhage.

If this comes back clean, then your suspicions of meningitis or encephalitis start to rise, so you do a lumbar puncture… but what do the results mean!?

Interpretting CSF results

The principles of CSF interpretation are fairly simple:

  • White Cell Count
    • Usually below 5 and increased in infection
    • More increased in bacterial than in viral infection (>500 suggests bacterial)
  • Cell differential
    • If you have a raised white count, the type can tell you bacterial vs viral
    • Bacterial tends to induce more polymorphonucleocytes
    • Viral will give a massive proliferation of lymphocytes
  • Red blood cells
    • Normally shouldn’t be any, usually some in infection
    • The key here is a huge red cell count in the presence of minimal white cell elevation is strongly suggestive of herpes encephalitis
    • you also want to consider subarachnoid haemorrhage and ruptured aneurysm, however you’d hope these were picked up on the CT
  • Protein
    • Generally elevated in infection
  • Glucose
    • bacteria eat up lots of glucose, so a low CSF glucose suggests bacteria are present
    • Viral infections usually have a normal glucose level
  • Opening pressure
    • Pressure increases in bacterial infection, and is usually normal in viral infection
  • Gram’s stain
    • 80% of the time in bacterial meningitis you will be able to visualise organisms in the CSF
    • Beware the 20%!

Most common causative organisms

Neonates – Group B streptococcus and Neisseria Meningitidis

Children and Adults – Streptococcus pneumoniae, Neisseria meningitidis, Listeria monocytogenes

And finally – prophylaxis

Anyone who comes in with bacterial meningitis could very well have passed it on to those around them. Close contacts should be given adequate prophylaxis in the form of:

  • Rifampicin 600mg (10mg/kg) every 12 hours for 4 doses
  • or
  • Ciprofloxacin 500mg in a single dose (only for adults)