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12.10.01 Notes

Jaundice
  • Up to 70% of neonates
  • Pathological if appears in first 24 hr
  • Starts in the head and moves down
    • Appearance below the waist is a warning sign

Kernicterus

  • Etymology
    • "Kern" or kernel plus "icterus" or yellow
    • Due to yellow staining of basal ganglia
  • Acute diagnosis
    • Abnormalities of tone
      • Hypertonia, or hypotonia, or variation between the two
    • Lethargy
    • High pitched cry
    • Arching the back and spine (retrocollis or opisthotonus)
    • Fever
  • Consequences
    • Hearing loss or deafness
    • Athetoid cerebral palsy
      • Refers to the slow, writhing involuntary movements that occur
    • Impairment of eye movements especially upward gaze
    • Dystonia

Hyperimmunoglobulin E syndrome
  • Association with deep tissue infection?
  • FATED
    • Coarse facies
    • Cold staph abscesses
    • Retained primary teeth
    • Increased IgE
    • Dermatologic problems [eczema]

Antipsychotic side effects
  • Tardive dyskinesia
    • Characterized by repetitive, involuntary, purposeless movements
    • From neuroleptic-induced dopamine supersensitivity in the nigrostriatal pathway, with the D2 dopamine receptor being most affected
  • Neuroleptic malignant syndrome
    • Muscle cramps and tremors, fever, symptoms of autonomic nervous system, alterations in mental status
    • Iincreased muscular activity and rhabdomyolysis => raised CPK

Common variable immunodeficiency

  • Group of approximately 150 primary immunodeficiencies (PIDs)
  • Common set of features but different underlying causes
  • Most commonly encountered primary immunodeficiency
  • Features:
    • Hypogammaglobulinemia
    • Poor titer response to vaccination with polysaccharide and protein antigens
    • Recurring infections involving the ears, eyes, sinuses, nose, bronchi, lungs, skin, GI tract, joints, bones, CNS, parotid glands, etc.
    • Viral infections that usually respond to antivirals
    • Enlarged lymph nodes, spleen
    • Fatigue

Otitis media

  • AKA glue ear
  • Organisms:
    • Streptococcus pneumoniae (most common)
    • Pseudomonas aeruginosa, nontypeable Haemophilus influenzae, Moraxella catarrhalis
    • Haemophilus influenzae in older adolescents/adults


Azithromycin
  • Macrolide antibiotic
    • Derived from erythromycin
  • Used to treat or prevent middle ear infections, strep throat, pneumonia, typhoid, sinusitis
  • Also as prophylaxis for those with impaired immunity (e.g. immunodeficiency)

Vitamin D deficiency
  • Signs
    • Brittle nails
    • Wide wrist
    • Prominent forehead
  • Causes
    • NOT just insufficient intake
    • e.g. Renal, liver, receptor problems
    • => Do a full bloods workup when checking Vit D levels to exclude secondary causes

Naevi
  • Melanocytic
    • Derived from melanocytes
    • e.g. Your standard mole; Mongolian spot
  • Epidermal
    • Derived from keratinocytes
  • Connective tissue
    • Derived from connective tissue cells like adipocyte and fibroblasts
    • V. rare
  • Vascular
    • Derived from structures of the blood vessels
    • e.g. Haemangioma

Headache history
  • Characteristics
    • Location
      • Uni or bilateral region
    • Character
      • Pulsating, pressing
    • Severity and effect on ability to carry out daily activities
    • Frequency and duration
      • Including number of days missed from school
    • Triggers
      • Fatigue/sleep deprivation, caffeine (including cola), specific foods, hunger, stress, exercise, menses, motion sickness, perfume
    • Aggravating and relieving factors
  • Associated symptoms
    • Constitutional symptoms suggestive of underlying systemic pathology
      • Fever, rash, decreased or fluctuating level of consciousness, irritability, confusion, hallucinations, seizures, possibility of unobserved head trauma
    • Symptoms suggestive of migraine
      • Nausea and vomiting, photophobia and phonophobia, osmophobia
    • Symptoms suggestive of aura
      • Visual, sensory, cognitive or motor manifestations which may precede headache onset, occur concomitantly with it or occur after the headache
    • Autonomic symptoms
      • Pallor, flushing, syncope, tachycardia
    • Symptoms suggestive of complicated migraine or migraine variant
      • Can be specifically enquired about but these syndromes are rare in children and are usually diagnoses of exclusions
  • Past medical history and social/emotional factors
    • Co-existing medical disorders
      • In particular conditions associated with immune dysfunction (increasing probability of systemic disorder with secondary headache)
    • Emotional and social factors which may precipitate TTH
      • Social turmoil, academic failure, bullying etc
    • Symptoms of depression
  • Family and treatment history
    • Family history of migraine, especially maternal
      • FHX positive in 70 per cent
    • Medication previous tried
      • Dose, frequency, effect
    • History of excessive medication use?
      • Suggestive of analgesic induced headache or rebound headache
  • Physical examination
    • Vital signs, including blood pressure
    • Growth parameters, including head circumference
    • General examination
      • Specifically assessing for evidence of underlying systemic disease
    • Neurological examination
      • To look for any clinical evidence of underlying neurological pathology
      • Should include:
        • neurocutaneous lesions
        • cranial bruit
        • meningism
        • fundoscopy: papilloedema, retinal haemorrhages
        • spine: deformity suggesting occult spinal dysraphism
        • signs of unobserved head trauma

Notes

  • Isotretinoin
    • AKA roacutane
    • Induces apoptosis in sebaceous gland cells (and lots of other places!)
    • Retinoid
      • cf Teratogenic
    • Used primarily for severe cystic acne
  • Levetiracetam
    • Anticonvulsant for epilepsy 
    • Monotherapy for partial seizures / adjunct for others
    • AKA Kepra
    • Less bone marrow side effects than carbamazepine etc.
  • Dopamine pathways
    • Nigrostriatal
    • Mesocortical
    • Mesolimbic
    • Tuberoinfundibular 
  • Anterior fontanelle: 9-18 months
  • Anaemia => Splenomegaly
  • Sacral pit
    • Quite common
    • If you can see the bottom, don't worry
    • If not, needs investigation
      • c.f. spina bifida occulta
  • Anaemia is a CAUSE as well as a consequence of decreased appetite
  • Too much iron causes haemosiderosis
    • Don't confuse with haemochromatosis :)
  • Don't forget to consider CENTRAL causes of nausea/vomiting
  • ADH secretion from posterior pituitary craniopharyngioma
  • Frontal (as well as cerebellar) lesions can cause ataxia
  • Headache:
    • Changes in handwriting?
    • Clumsy?
    • Mood/personality changes?
  • Tuberous sclerosis
    • Non-malignant tumors grow in the brain, as well as kidneys, heart, eyes, lungs, skin
    • Symptoms may include seizures, developmental delay, behavioral problems, skin abnormalities, lung and kidney disease

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