Neurological Presentations Flashcards
What is Muscular dystrophy and how is it Mx?
Group of muscle diseases that result in increasing weakening and breakdown of skeletal muscles over time
Becker’s = semifunctional dystrophin, later onset, milder Sx, slower progress, cardiac involvement, Mx: exercise programmes, physio to manage Sx
Duchenne = near-total loss of dystrophin, muscle gets replaced by fibroadipose, Mx: knee-ankle-foot orthoses, prednisolone, DMA, gene therapy
What is craniosynostosis?
Premature closure of one or more of the skulls fibrous sutures by ossification = skull grows parallel to closed suture = RICP, visual loss, sleep impairment, OSA, eating problems, decreased IQ
Mx = surgery at 6-12m aiming to normalise cranial vault allowing for normal brain growth
What is paediatric ataxia, its presentation and DDx?
Cerebellar ataxia = dysfunction of the complex circuitry connecting the basal ganglia, cerebellum and cerebral cortex
- Causes = drugs, varicella, posterior fossa lesions, genetics, degenerative disorders
Sensory ataxia = dysfunction of the proprioceptive sensory activity correlated with the peripheral nerves or to the posterior columns of the spinal cord
S+S = truncal unbalance, nystagmus, head waddling, stepping gait, distal wasting of the limbs, sensory damage of the extremities
DDx = Friedreich ataxia, cerebral palsy, cerebellar hypoplasia, drug intoxication, post-infectious cerebellitis
What is paediatric hydrocephalus , its presentation and DDx?
Build up of cerebrospinal fluid in the ventricular system
S+S = bulging fontanel, which is the soft spot on the surface of the skull, rapid increase in head circumference, eyes that are fixed downward, seizures, extreme fussiness, vomiting, excessive sleepiness, poor feeding
DDx = spina bifida, brainstem glioma, frontal lobe epilepsy, intracranial haemorrhage, lymphoma, abscess
What is paediatric Intracranial bleeds, its presentation and DDx?
S+S = sudden severe headache, dizziness, fainting, trouble with vision/speech/movement, confusion, behavioural changes, fever, stiff neck, seizures, N+V
DDx = trauma, AVM, aneurysm, weakened blood vessels caused by brain tumours, sickle cell disease
What is NTD, its presentation and DDx?
In spina bifida, the fetal spinal column doesn’t close completely. There is usually nerve damage that causes at least some paralysis of the legs. In anencephaly, most of the brain and skull do not develop
S+S = paralysis and urinary and bowel control problems, blindness, deafness, intellectual disability, lack of consciousness, death
DDx = Herniation of meninges, spina bifida, anencephaly, microcephaly
What is paediatric RICP, its presentation and DDx?
S+S = seizures, lethargy, irritability, vomiting, neck stiffness, tinnitus, dizziness, paraesthesia, headache, sun setting sign, forehead veins, bulging fontanelle, focal neurology
DDx = complication of neurological injury, hydrocellulose, brain tumour, intracranial infections, hepatic encephalopathy, impaired CNS venous outflow
Mx = head positioned midline, head end tilted 20-30 degrees, isotonic fluid at 60% maintenance, intubation + ventilation if GCS >9, mannitol, maintain normothermia/BP
What is paediatric reflex anoxic seizures (RAS), its presentation and DDx?
Not epileptic seizures or epilepsy!
Usually a consequence of a reduction in cerebral perfusion by oxygenated blood
RAS = any unexpected pain/fear/surprise, head trauma can trigger attack
S+S = asystolic, eyes roll, pallor, clenched jaw, stiff body, shallowed/stopped breathing, jerking
DDx = seizures, cardiac syncope (due to a cardiac arrhythmia), ‘cyanotic breath-holding spells’
What is spinal muscular atrophy, its presentation and DDx?
Group of neuromuscular disorders that result in the loss of motor neurons and progressive muscle wasting - leading cause of genetic death in infants
SMN1 gene defect = SMN1 gene encodes SMN, a protein necessary for survival of motor neurones
S+S = worsening muscle weakness, muscle twitching, dysphagia, scoliosis, joint contractures
DDx = Congenital muscular dystrophy, Duchenne muscular dystrophy, Prader-Willi syndrome
Outline neurocutaneous syndromes
NS + skin have common ectodermal origin, embryological disruption causes syndromes involving both
Tumours, hearing loss, seizures, developmental problems
Types =
- Tuberous sclerosis (TS) = ash leaf spot, adenoma sebaceum, shagreen patch, ungual fibromas
- Neurofibromatosis (NF) = birthmarks (café-au-lait spots)
- Sturge-Weber disease = unilateral port wine stain, infantile glaucoma, intracranial leptomeningeal vascular anomaly, seizures
Outline neurodegenerative disorders
Class of diseases that affect grey matter and white matter in the brain
Lysosomal storage disorders, peroxisomal enzyme defects, wilsons disease
- Infections: chronic HIV, Progressive Rubella Syndrome
- Chronic lead poisoning
- Hypothyroidism
- Vit B12 + E deficiencies
- Drugs (anticonvulsants)
S+S = cognitive impairment, seizures, speech/hearing/vision difficulties or deterioration, fatigue, behavioural or psychiatric issues
Outline paediatric neuropathies
Disorders affecting the axons, myelin, or Schwann cells of the PNS
Types = Guillain-Barre syndrome, bell palsy, hereditary motor sensory neuropathies
Causes
- diabetes
- physical injury (trauma)
- vascular and blood problems
- autoimmune disorders
- nutritional or vitamin imbalances, alcoholism, exposure to toxins
- certain chemotherapy drugs
- infections
S+S = mild to disabling and may include a loss of reflexes, problems feeling pain or changes in temperature, numbness and tingling, and pain that is often worse at night
What are the RF for headache/migraine in children and how do they present?
Primary = not linked to another health condition (migraine, tension, cluster)
Sec = less common type of headache, caused by a problem in the brain, or another health condition or disease (head/neck trauma, meds, infection, HTN, sinusitis)
RF = stress, poor sleep, head injury, FH of migraines
S+S = pain, band around head, back part of the head or neck, both sides of the head, change in sleep pattern, throbbing/pounding, light/sound sensitivity, N+V, eye that is affected may have a droopy lid, small pupil, or redness and swelling of the eyelid
How should a headache/migraine be Ix?
Hx + Neuro exam
More serious = MRI, CT, LP
Outline the Mx of a headache/migraine
Resting in a quiet, dark environment
Meds = triptans, antiemetics
Learning how to manage stress
Staying away from foods and drinks that trigger headaches
Getting enough sleep
Not skipping meals
Making changes to your child’s diet
Getting exercise
