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