10: Congenital and neuromuscular conditions Flashcards
What is the common name for osteogenesis imperfecta?
Brittle bone disease
Which protein is defective in osteogenesis imperfecta?
Type ONE collagen
bONE
Osteogenesis imperfecta is autosomal (dominant / recessive).
both
People with osteogenesis imperfecta present with fractures and what unusual features?
Blue sclera
Hearing loss
How are bones described in osteogenesis imperfecta?
Osteopenic and gracile
How is severe osteogenesis imperfecta treated?
Osteotomy
Osteogenesis imperfecta is a type of skeletal ___.
skeletal dysplasia
because it causes short stature
What is the main presentation of skeletal dysplasia?
Dwarfism
What are the two categories of skeletal dysplasia?
Proportionate
Disproportionate
depending on limb presentation
Skeletal dysplasia has an (environmental / genetic) pathogenesis and is treated ___.
genetic
supportively - preventing compression, joint instability, deformity
What is a well known skeletal dysplasia?
Achondroplasia
What are two common connective tissue disorders?
Marfan’s syndrome
Ehlers-Danlos syndrome
What are connective tissues?
Tendons
Ligaments
Cartilage
Bone
Which germ layer does connective tissue come from?
Mesoderm
What type of collagen is found in hyaline cartilage?
Type II collagen
Apart from collagen, what other protein is important in connective tissue?
Elastin
The gene for which protein is mutated in Marfan’s syndrome?
Fibrillin
Precursor to elastin
What is the presentation of Marfan’s syndrome?
Tall
Long limbs
Hypermobility
Arachnodactyly
High arched palate
Pectus excavatum
Scoliosis
Cardiac valve issues
Respiratory issues …
Ehlers-Danlos syndrome is autosomal (dominant / recessive).
autosomal dominant
The genes for which proteins are mutated in Ehlers-Danlos syndrome?
Collagen
Elastin
What is the presentation of Ehlers-Danlos syndrome?
Hypermobility > dislocations
Stretchy skin
Scoliosis > OA
Easy bruising
Cardiac issues
What genetic syndrome, causing learning difficulties, is associated with atlanto-axial instability, recurrent dislocation and OA?
Down syndrome
What is the mode of inheritance of DMD?
X-linked recessive
DMD only affects (boys / girls).
boys
Which gene is affected in DMD?
What does it control?
Dystrophin
Calcium transport - essential for muscle contraction
What is the presentation of DMD?
Progressive muscle weakness
Scoliosis
Cardiac and resp. failure
Death in early 20s
What tests can confirm DMD?
Raised CK
Muscle biopsy
What is the difference between DMD and BMD?
BMD is milder
Death in 30s/40s
What is the clinical name for clubfoot?
Talipes equinovarus
What percentage of clubfoot cases are bilateral?
50%
What movement does the foot perform in clubfoot?
Supination
Talipes equinovarus tends to affect (boys / girls).
boys
What are some risk factors for developing talipes?
Breech birth
Family history
High amniotic fluid concentration
Hypermobility / skeletal dysplasia
People with talipes are at higher risk of which paediatric condition?
DDH
Which technique is used to treat talipes?
Ponseti technique
serial casting then boots and bar for 3-4 years
What are some examples of limb malformations seen in children?
Missing / extra bones
Failure of separation of digits
Fusion of bones
What is syndactyly?
Failure of digits to separate
usually 3rd/4th digits
What is polydactyly?
Extra digit
amputated
What is fibular hemimelia?
Missing fibula on one side
causes tibial/ankle deformity, limb shortening
severe cases require amputation
Which bone is missing in radial club hand?
Ulna
When is the brachial plexus most at risk of injury?
During birth
Large babies are common with ___ mothers.
diabetic
What are the two types of palsy associated with obstetric brachial plexus injury?
Which spinal nerves are involved?
Erb’s palsy (C5 & C6)
Klumpke’s palsy (C8 & T1)
What posture is associated with Erb’s palsy?
Waiter’s tip posture
What posture is associated with Klumpke’s palsy?
Flexed fingers
What causes cerebral palsy?
Insult to immature brain before age of 3
What can cause cerebral palsy?
Intrauterine injury
Hypoxia at birth
Meningitis before age of 3
What is the presentation of cerebral palsy?
Many different variations
neuromuscular disease, limb weakness/spasticity/hypereflexia
learning difficulties
types of CP (probably a neuro topic)
treatment for CP
What causes spina bifida?
Failure of posterior vertebral arches to fuse
What is the name given to mild spina bifida?
Spina bifida occulta
What are the signs of spina bifida occulta?
Birth mark / skin tag / fatty deposit / hairy patch at side of disease
If spina bifida causes compression of the lumbar spine, which presentations may you see?
Pes cavus
Clawing of toes
Cauda equina syndrome
What is the name for severe spina bifida?
Spina bifida cystica
What herniates in spina bifida cystica?
Meninges
Nerve roots
Can people with spina bifida cystica walk?
Usually not
How is spina bifida cystica treated?
Closure of herniation within 48hrs
Scoliosis correction
Decompression of spinal cord
Foot surgery
meningoceles and myelomeningoceles
What type of infection is poliomyelitis?
Viral infection
How does poliovirus enter the body?
Faecal / oral route
What causes limb paralysis in poliomyelitis?
Infection of anterior horn of spinal cord
