CNS Flashcards
Metachromatic leukodystrophy
Metachromatic leukodystrophy (sulfatide lipidosis) (MLD) is a rare autosomal recessive lysosomal storage disease that causes progressive demyelination of the central and peripheral nervous system.
Muscular dystrophies
A group of genetically determined disorders with progressive degeneration of skeletal muscle and no structural abnormality in the central or peripheral nervous system, and have been sub divided into various types on the basis of the clinical distribution and severity of muscle weakness and pattern of inheritance
E.g Duchenne’s muscular dystrophy
Myotonic syndrome
A state of delayed relaxation, or sustained contraction of skeletal muscle due to instability of the muscle cell membrane.
Myotonic dystrophy (Steinert’s syndrome)
Occurs in adolescents and adults, with myotonia, dystrophy of the facial muscles, shoulder girdle, brachioradialis and the anterior compartment of the leg muscle.
A/w: baldness, testicular atrophy, hyperinsulinism, peripheral neuropathy, growth hormone disturbances, posterior cataracts, and intellectual impariment
Infantile SMA (Spinal Muscular Atrophy)
A group of hereditary disorders affecting proximal symmetrical muscular atrophy associated with progressive degeneration of the anterior horn cells of the spinal cord and brainstem motor neurons
Friedreich’s ataxia
One of more common spinocerebellar ataxia with onset before 20 y.o, an autosomal recessive disorder, and the combined involvement of large sensory fibres in peripheral nerves, cerebellar tracts, pyramidal tracts and posterior column.
Progressive ataxia, often presenting initially as gait difficulties, and speech is affected. Nystagmus not common. Characteristic club foot and pes cavus (abnormally high foot arch) and cardiomyopathies
Sturge weber syndrome
Congenital vascular disorder characterized by
Port wine stain Capillary venous malformation affecting the brain and eye Seizures Hemiparesis Intellectual disability Visual field defect Glaucoma
Causes of Floppy Strong Baby
Prematurity HIE Hypoglycaemia Sepsis Electrolyte imbalance Drug related IEM Hypothyroidism Chromosomal disorders CNS malformations Benign congenital hypotonia Underlying syndrome (Down, Prader-Willi) Cervical spinal cord trauma
Causes of Floppy Weak
SMA, esp. type 1 (Werdnig-Hoffman disease) Myasthenia gravis Congenital myotonic dystrophy Congenital muscular dystrophies Congenital myopathies Metabolic myopathies Peripheral neuropathies
Causes of Floppy Strong Baby
Prematurity HIE Hypoglycaemia Sepsis Electrolyte imbalance Drug related IEM Hypothyroidism Chromosomal disorders CNS malformations Benign congenital hypotonia Underlying syndrome (Down, Prader-Willi) Cervical spinal cord trauma
Causes of Floppy Weak
SMA, esp. type 1 (Werdnig-Hoffman disease) Myasthenia gravis Congenital myotonic dystrophy Congenital muscular dystrophies Congenital myopathies Metabolic myopathies Peripheral neuropathies
Investigations for SMA
muscle enzymes (CPK) US of muscles ECG EMG Muscle biopsy
Signs of Tuberous sclerosis
Hypopigmented macule (ash-leaf spot)
Angiofibromas (adenoma sebaceum)
Shagreen patch
Brown fibrous plaque on forehead
signs of NF1
Cafe au lait macules
Freckling
Lisch nodules
Cutaneous neurofibromas
