Partial Chromosome 15 Deletions

Angelman Syndrome

  • Maternal segment of chromosome 15 deleted
  • Angelman because there is no female part
    • Maternal genetic deletion
  • Happy and flappy

Prader-Willi Syndrome

  • Paternal segment of chromosome 15 deleted
  • Prader-Willi is lacking the paternal part
    • Paternal genetic deletion
  • Fat, dumb, weak and infertile

References

  1. Genetics Home Reference. (2018). Angelman syndrome. [online] Available at: https://ghr.nlm.nih.gov/condition/angelman-syndrome [Accessed 24 Apr. 2018].
  2. Genetics Home Reference. (2018). Prader-Willi syndrome. [online] Available at: https://ghr.nlm.nih.gov/condition/prader-willi-syndrome [Accessed 24 Apr. 2018].
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Abdominal And Hip Signs In Children

There are many signs of peritoneal irritation.

Rovsing Sign

Palpation of the left lower quadrant elicits pain in the right lower quadrant.

Indication: suspected appendicitis, peritoneal irritation.

Obturator Sign

Passively flex the supine patient’s hip and knee and internally rotate the hip to elicit pain.

Indication: suspected pelvic appendicitis, irritation to obturator muscle.

Psoas Sign

2 options:

  1. Ask the supine patient to flex the hip against resistance to elicit pain.
  2. Ask the supine patient to roll onto their side and passively extend the hip, which stretches the psoas and elicits pain.

Indication: suspected retrocaecal appendicitis, irritation to psoas muscle.

Galeazzi Sign

Have the infant supine, with the hips at 45 degrees and knees at 90 degrees. Look at the height of the knees for asymmetry.

Indication: suspected hip dislocation or congenital femoral shortening.

McBurney’s Point

Pain at the point 1/3 along the line from the ASIS to the umbilicus.

ASIS means anterior superior iliac spine, not a government spy organisation.

That’s the lateral 1/3 point closest to the ASIS.

Indication: suspected appendicitis.

Dunphy’s Sign

When coughing equals pain.

Indication: suspected appendicitis.

References

  1. Gooding, F. (2018). Rovsing’s sign • LITFL • Medical Eponym Library. [online] LITFL • Life in the Fast Lane Medical Blog. Available at: https://lifeinthefastlane.com/eponymictionary/rovsings-sign/ [Accessed 8 Apr. 2018].
  2. MDforAll (2010). Obturator Sign. Available at: https://www.youtube.com/watch?v=jV80jcnhNtA [Accessed 8 Apr. 2018].
  3. MDforAll (2010). Psoas Sign. [image] Available at: https://www.youtube.com/watch?v=n0a0PCwsVQ4 [Accessed 8 Apr. 2018].
  4. Fulford, D. (2018). Galeazzi Test • LITFL • Medical Eponym Library. [online] LITFL • Life in the Fast Lane Medical Blog. Available at: https://lifeinthefastlane.com/eponymictionary/galeazzi-test/ [Accessed 8 Apr. 2018].
  5. Hardin, D. (1999). Acute Appendicitis: Review and Update. [online] American Family Physician. Available at: https://www.aafp.org/afp/1999/1101/p2027.html [Accessed 8 Apr. 2018].

Three Major Trisomy Disorders

Trisomy 13: Patau syndrome

Trisomy 18: Edward syndrome

Trisomy 21: Down syndrome

Informative, right? Not yet! The real meat, or pseudo-meat if you’re not of a carnivorous sentiment, is in the memorising.

Memory Aids

Arrange these trisomies in order of increasing number: 13, 18, 21.

Then the mnemonic you need is: PED. As in pediatrics! As in children! Which is the patient demographic to whom these congenital trisomies relate.

The prevalence follows a similar trend; Patau syndrome is the most life-threatening but least common and those with Edward syndrome can live a tiny bit longer but not much so, while Down syndrome is more compatible with life and the most common of these three conditions.

Screening Tests

Down syndrome is famously detected through a first trimester screening test:

  • Free beta-hCG
    • Blood test
  • PAPP-A
    • Blood test
  • Nuchal translucency scan
    • Measures nuchal fold thickness, as this is greater in Down syndrome

NIPT is another option. It’s non-invasive prenatal testing that uses the mother’s blood.

Diagnostic Tests

The more definitive options are:

  • CVS
    • Done earlier but presents greater risk to the foetus, because it’s about chopping off a bit of the chorionic villus
  • Amniocentesis
    • Done later at half the risk of CVS, with the downside of the parents having to find out further into the pregnancy compared to CVS

References

  1. The University of Chicago Pediatrics Clerkship. (2018). Trisomy 18 (Edwards), Trisomy 13 (Patau). [online] Available at: https://pedclerk.bsd.uchicago.edu/page/trisomy-18-edwards-trisomy-13-patau [Accessed 31 Mar. 2018].
  2. Pregnancy, Birth and Baby. (2018). Screening for Down syndrome. [online] Available at: https://www.pregnancybirthbaby.org.au/screening-for-down-syndrome [Accessed 31 Mar. 2018].
  3. BabyCenter Australia. (2018). Screening for Down syndrome. [online] Available at: https://www.babycenter.com.au/a1487/screening-for-down-syndrome [Accessed 31 Mar. 2018].

Croup

Croup is formally titled acute laryngotracheobronchitis, but that’s a less catchy name.

It’s a viral upper respiratory tract infection that affects the larynx and trachea. It primarily occurs in children under 5 years old.

Symptoms

Croup attacks kids, so the acronym for symptoms must be in the appropriate theme.

CHILD

  • Coryzal prodrome
  • Hoarse voice
  • Inspiratory stridor
  • Like a barking seal cough
  • Difficulty breathing

Management

  • Single-dose corticosteroids of any of the following:
    • Dexamethasone orally
    • Prednis(ol)one orally
    • Nebulised budesonide

PLUS

  • Single-dose nebulised adrenaline if severe
    • Repeat after 30 minutes if no improvement
    • Observe for 4 hours after administration
    • ICU review if ineffective

References

  1. Croup. In: eTG complete [Internet]. Melbourne: Therapeutic Guidelines Limited (eTG November 2017 edition); 2017 Nov.

Contraindications To Lumbar Puncture

A lumbar puncture is a procedure that involving drawing out cerebrospinal fluid, fondly known as CSF. For example, it can be used to check CSF for immune cells and glucose levels in suspected meningitis.

Lumbar puncture is considered an invasive procedure. But even with that aside, it’s not appropriate for everyone. That is, it does not suit all patients.

Contraindications to lumbar puncture are:

  • Skin infection at the lumbar puncture site
  • Uncorrected coagulopathy
  • Increased intracranial pressure
  • Trauma to the spinal cord

References

  1. Queen’s University School of Medicine. (n.d.). Contraindications. [online] Available at: https://meds.queensu.ca/central/assets/modules/lumbar_puncture/contraindications.html [Accessed 2 Feb. 2018].

Glycogen Storage Disease

GSD is a genetic disease characterised by missing enzymes. Inheritance is typically autosomal recessive.

GSD involves disrupted glycogen metabolism. It makes glycogen accumulate or not form properly, so the glycogen cannot be broken down into glucose or stored like normal.

Treatment can include dietary modification.

References

  1. Kinsey, A. W., & Ormsbee, M. J. (2015). The Health Impact of Nighttime Eating: Old and New Perspectives. Nutrients, 7(4), 2648–2662. http://doi.org/10.3390/nu7042648
  2. Johns Hopkins Medicine. (n.d.). Glycogen Storage Disease in Children. [online] Available at: https://www.hopkinsmedicine.org/healthlibrary/conditions/liver_biliary_and_pancreatic_disorders/glycogen_storage_disease_in_children_134,227 [Accessed 23 Jan. 2018].
  3. Cleveland Clinic. (2018). Glycogen Storage Disease. [online] Available at: https://my.clevelandclinic.org/health/diseases/15553-glycogen-storage-disease-gsd [Accessed 23 Jan. 2018].