26. 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
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, 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
DDx = complication of neurological injury, hydrocellulose, brain tumour, intracranial infections, hepatic encephalopathy, impaired CNS venous outflow
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 neurons
S+S = worsening muscle weakness, muscle twitching, dysphagia, scoliosis, joint contractures
DDx = Congenital muscular dystrophy, Duchenne muscular dystrophy, Prader-Willi syndrome
