Category Archives: Clinical

Seizures

Seizures, fits, funny turns, convulsions, attacks…  None of these really has a medical meaning.  Convulsion suggests rhythmic motor activity, but that’s about it.  The implication of all of these is that there is excessive abnormal muscle contraction, usually bilateral.  Can be sustained or interrupted.

Nottingham RCPCH approved guideline distinguishes:

  • Febrile?
  • Already on anti-epileptic medication?  Consider checking levels, or at least storing sample.
  • Predisposing conditions? eg neurodevelopmental problem, brain injury/surgery.
  • Neonate or young infant? Some additional possibilities eg hypoxic ischaemic encephalopathy (HIE), Fifth day fits, drug withdrawal (neonatal abstinence syndrome), pyridoxine dependent epilepsy.

Most commonly Febrile convulsions ie age related, benign.  Beware complex (multiple seizures in same illness, focal features, prolonged >15 mins) and any abnormal findings eg neck stiffness, bulging fontanelle, prolonged illness, abnormal cognition before/after.

Important differentials are:

  • meningitis
  • encephalitis
  • shaken baby (non-accidental injury)
  • brain tumour/haemorrhage, hydrocephalus
  • ingestion (deliberate or accidental)
  • metabolic (low glucose, calcium/magnesium, low/high sodium)

May represent first evidence of epilepsy.

Horner’s syndrome

Horner’s syndrome = small pupil, ipsilateral ptosis +/- reduced sweating.  Compare Holmes Adie pupil.

Anhidrosis localizes lesion to preganglionic branch.

Turn down the lights to make it more obvious!  Look for associated Klumpke’s.

In babies usually congenital or related to birth trauma, rarely it can be due to:

  • cervical or mediastinal neuroblastoma (look for mass in neck or abdomen, heterochromia (eye changes colour!) or
  • carotid vascular lesion or
  • apical pulmonary abnormality.

Other cranial nerve involvement clearly points to brainstem problem.

[British Journal of Ophthalmology 1998;82:51-54. ]

Penis problems

The foreskin cannot, and should not, be retracted in newborn babies.  It should gradually begin to separate in the first few years of life.

Recurrent balanitis leads to scarring around the meatus, so that you cannot see the slit opening of the penis itself.  In this case, the foreskin will balloon on passing urine (a minor degree of this can still be seen in children without scarring.

Can try application of topical steroid creams: 0.05% betamethasone cream should be used twice daily for 2 to 4 weeks.  Gently retract foreskin without causing any discomfort and apply a thick layer of cream to the tightest part of the foreskin.  Steroid creams of higher potency may be tried if this fails.

Circumcision if significant phimosis and steroid creams fail.

Smegma pearls

Retained smegma can accumulate into substantial but painless lumps down the shaft of the penis.  Can be ignored.

Balanitis Xerotica Obliterans

A form of lichen sclerosus affecting the tip of the penis, causing white, crinkly thickening.

Trichotillomania

Or repetitive hair pulling.  Previously classified as an impulse control disorder, ie a sense of tension that is only “satisfied” when hair is pulled out. However, many children do not get this tension and gratification so in DSM-V trichotillomania is included among ‘obsessive-compulsive and related disorders.

Dutch cohort mostly girls, literature says no gender difference!   Nail biting can co-exist, as can stereotypies.  Many kids will also eat their hair once it is pulled out.  Most common age of onset is in early adolescence (9-13 years), but frequently occurs in early childhood, even as early as 12 months of age.  Triggering factors identified include concerns about physical appearance, family and school issues, and concurrent illness.  Parents sometimes also pull their hair, so maybe (partly) learned.

Two distinct types of trichotillomania described: automatic and focused

  • Automatic – outside of own awareness, may not recall actual pulling, but may admit to ‘playing with their hair’ or may have been noted to pull their hair in a distracted state.  Children tend to fall into this category.
  • Focused – aware, in response to negative emotion or urges

Parents often miss the hair pulling and only present when hair clumps noticed on surfaces (esp bed –  presumably due to pulling in sleep) or bald patches appear.

On Examination

Exclamation mark hairs (thin proximally, at scalp, normal distally), usually thought of being evidence of alopecia areata, may be seen, so not very predictive.  Pull test – gentle traction on about 20 hairs in 3 different locations.  Positive if more than 5 hairs extracted – suggests active alopecia areata.  You may miss dormant alopecia, but in that case hair regrowth should occur.

[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4857813/]

Stereotypy

Where children present with abnormal movements, consider:

Stereotypies are repetitive non-functional movements, typically hand flapping or twisting, body rocking, head banging/nodding, grimacing, arm flapping. As with tics, there is often a family history, and there is an association with obsessive compulsive tendencies.

They can be present in children with normal development, but are a feature of neurological disorders especially autism spectrum disorder and sensory impairment.  In these children, the movements are part of a period of introspective absorption, they make prefer such activity to conventional social interactions.

There are a number of differences from tics, although they can co-exist:

  • Sterotypy presents younger, eg under 2 yrs.  Tics present from 4 onwards.
  • Tics can vary over time, so grimacing moves on to  shoulder jerks, then moves on to clearing throat.  Stereotypy movements are unchanging.
  • Stereotypy movements are rhythmic, rather than just a single jerk
  • Tics are brief, stereotypy can be prolonged
  • Tics have a premonitory sensation (although only older children may be aware)
  • Tics can be suppressed with effort.  Children with stereotypy can be distracted but may resent it! (Similarly self gratification)

Excitement and stress are triggers for both.  Over time, the child usually becomes aware of social disapproval and may suppress the behaviour except in secret!

[Ulster Med J 2014;83(1):22-30]

 

 

 

Episodic autonomic symptoms

  • Facial symptoms (eye/nose watering, flushing) can be related to cluster headache.
  • POTS (Postural orthostatic tachycardia syndrome) – more common in females.  Orthostatic tachycardia (NOT hypotension), dizziness, chest pain, palpitations, headaches, dyspnoea.  Sometimes bluish red discolouration in lower limbs.  No known cause, can have sudden onset in previously fit individuals.  Associated with Ehlers Danlos (venous return problem?).  Can be debilitating, associated with chronic pain, sleep problems, GI symptoms.  Can improve over time.  Diagnosis – heart rate increases by 30 beats per minute (bpm) or more (40bpm in those aged 12-19) after 10 minutes of standing, or if it increases to more than 120bpm. Consider treatment with beta blocker, fludrocortisone, SSRI.
  • Metabolic disorders (disorders of fatty acid oxidation, organic acids, urea cycle or glycosylation)
  • Acute hydronephrosis
  • Addison disease
  • Brain tumours and other masses in the head
  • Familial dysautonomia
  • Spinal dysreflexia
  • Phaeochromocytoma can cause headache and sweating, but anxiety and palpitations should be prominent, with hypertension (or at least orthostatic hypotension).
  • Carcinoid causes flushing
  • Occipital lobe epilepsy
  • Scombroid toxicity

Intraosseous needle technique

Proximal humerus preferred in adults! Less pain, nearer heart. Lay elbow across abdomen. Half way between axilla and lateral aspect, feel for neck. 45 deg angle.

All sizes are same gauge, just length different. Judge soft tissue depth with thumb. If you can’t see first black line then prob too short for safety!  Don’t put patient into MRI!

Contra indications: local infection, previous attempt, fracture. Osteoporosis is less of an issue with EZIO driver, cf Cook’s needle.

Hard flush initially to help flow. Pain of infusion is severe – often worse than pain of insertion.  Consider lidocaine (without adrenaline) 0.5mg/kg IO over 2 mins, then allow 1 min dwell time, BEFORE flush.

Compartment syndrome is major complication (due to extravasation) – diproportionate pain, esp on passive stretching.  Later pallor, paraesthesiae, pulseless.

72hr life.  Removal can be tricky – secret is to remove extension tube and attach syringe directly to hub, for better grip.

Capillary refill time (CRT)

In children over 7 days of age, the upper limit of normal CRT is approximately 2 s when measured on a finger, and 4 s when measured on the chest or foot, irrespective of whether the child is feverish or not. Longer pressing times and ambient temperature outside 20°C–25°C are associated with longer CRT.

Evidence suggests that the use of stopwatches reduces variability between observers.

Recommend following standardised CRT method: press on the finger for 5 s using moderate pressure at an ambient temperature of 20°C–25°C. A capillary refill time of 3 s or more should be considered abnormal.  Other timings apply to other sites.

[Systematic review – 21 studies on 1915 children.  Arch Dis Child doi:10.1136/archdischild-2014-307079]

Blood Culture

Essential investigation in sepsis, particularly where unusual organisms or deep seated infection eg endocarditis.

The volume of the sample is important. Small volumes have higher false negative rate, and are slower to become positive – 6ml superior to 2ml [j Peds 1996].

Traditionally, thought to be most effective when done at time of pyrexia, but there is little evidence for this.  In a study of 1,436 adult patients with bacteremia and fungemia, the likelihood of documenting bloodstream infections was not significantly enhanced by collecting blood specimens for culture at the time that patients experienced temperature spikes. Nor was there any benefit for any subgroup eg patient age, gender, white blood cell count and specific cause of bacteremia. [J Clin Microbiol. 2008 Apr; 46(4): 1381–1385.  doi:  10.1128/JCM.02033-07]

Also traditionally, considered negative at 48 hours. Canadian study of 98 positive blood cultures in babies up to 90 days of age found 96% of true pathogenic cultures were positive at 24 hours, with 100% positive at 36 hours. Mean time to positivity was 14.4 hours in pathogenic bacteria and 23.2 hours in contaminants.  [DOI: 10.1093/jpids/piv078]

US study of 256 non-critically ill babies up to 60 days of age found median time to positive blood cultures of 16.6 hours for pathogens cf 25.1 for contaminants, for CSF cultures 14 hours for pathogens cf 40 for contaminants. 82% of pathogens positive within 24hrs for both blood and CSF [can’t see figures for 36/48hrs yet, full text embargoed?][Hosp Peds 2020]

Another US study of 392 cases (outside of PICU) found 96% of pathogens positive by 36hrs (95% CI 95-98), and 99% at 48hrs. But not clear how many of these would have been well enough to go home at 36 hours.  Estimated that observation >36hrs would identify 1 bacteraemic infant for 1250-2778 infants [Biondi, JAMAped2014]. Note that there were significant differences between organisms (E coli faster, staph slower), and between sites (sample volumes? time to inoculation?). No correlation with degree of fever, interestingly.

Current Australian study, FeBRILe3.

In a tertiary neonatal unit, 72 hours was considered necessary. [ADC Fetal & Neonatal 2001]