Paeds neuro Flashcards
(26 cards)
Post-infectious causes of Bell’s palsy
HSV and Lyme disease
Complications of Bell’s palsy
Conjunctival infection
Exclude _________ in paediatric Bell’s palsy
Hypertension (associated aortic coarctation and renal failure)
Juvenile myasthenia presentation
>10 y old Ophthalmoplegia Ptosis Loss of facial expression Difficulty chewing Generalised weakness, especially proximal
Tensilon test - admistration of ____________
IV edrophonium bromide
Management of juvenile myasthenia
Pyridostigmine, neostigmine Immunosuppression Immune modulation (e.g. prednisolone, azathioprine, MM, biologics) Thymectomy Plasmapheresis
Limb girdle muscular dystrophies complications
Cardiomyopathy
Breathing difficulties
Investigation in Limb Girdle Muscular Dystrophy
HIGH Plasma Creatine Kinase
Congenital muscular dystrophies inheritance
Autosomal recessive
Congenital muscular dystrophies presentation and associations
Birth/early infancy
Weakness
Hypotonia
Contractures
Associations: CNS abnormalities, learning difficulties
Dermatomyositis features
Systemic illness Onset: 5-10 years Can be acute Fever Misery Symmetrical muscle weakness (mainly proximal) Sometimes - pharyngeal muscle involvement (impaired swallowing) Characteristic heliotrope rash - purple rash on eyelids and peri-orbital oedema Rash affecting extensor surfaces Sub-cut calcifications High inflammatory markers High CK
Dermatomyositis management
Physiotherapy (prevents contractures)
2 year course of STEROIDS
Immunosuppressants (methotrexate, cyclosporin)
Risk of cancer
What is a myotonic disorder, and how is it identified
Delayed relaxation after sustained muscle contraction, identified clinically and by EMG
Dystrophia myotonica Type I features
Common Autosomal Dominant Clinical features: - Hypotonia - Feeding difficulties - Respiratory difficulties - Thin ribs - Talipes - Oligohydramnios - Reduced foetal movements
- Myotonic facial appearance, learning difficulties and myotonia in older children
- Cataracts, male baldness, testicular atrophy, T2DM in Adults, as well as fatal cardiac conduction defects
Dystrophia myotonica type I cause
CTG nucleotide triplet expansion in the DMPK gene
A viral cause of ataxia
Post-infectious cerebellitis (varicella)
Variant of GB syndrome which cause ataxia
Miller Fisher syndrome
Drugs which cause ataxia
Carbemazepine, lamotrigine
Friedrich ataxia inheritance
Autosomal recessive
Friedrich ataxia cause
Triplet repeat in FXN gene leads to a lack of frataxin protein
Friedrich ataxia presentation
Worsening ataxia and dysarthria Distal wasting in the lower limbs Absent reflexes Pes cavus Impairment of proprioception and vibration sensation (posterior columns affected) Extensor plantar reflex (pyramidal involvement) Optic atrophy Ataxia worsens with age
Similar to Charcot-Marie Tooth disease
Friedrich ataxia complications
Kyphoscholiosis
DM
Cardiomyopathy
Death by 40-50 years old
Ataxia telangiectasia inheritance
Autosomal recessive
Ataxia telangiectasia cause
DNA repair disorder
