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Phakomatoses
Congenital neurological disorders
- Tuberous sclerosis
o Associated with mental retardation and epileptic seizures
o Patient exhibits facial nodules, skin patches, hamartomas and cysts in internal organs
- Von Hippel-Lindau disease
o Hemangioblastoma of the cerebellum, hemangioma of the retina, tendency to develop renal
cell carcinoma and pheochromocytoma
- Neurofibromatosis
o Type 1- multiple cutaneous neurofibromas, pigmented skin lesions (café au lait lesions),
pigmented foci in the iris (Lisch nodules)
o Type 2- bilateral acoustic schwannomas and less commonly meningiomas
Cerebral Palsy
- Manifestations occur around infancy, get movement abnormalities, spastic paralysis, speech
impairments and intellectual deficits
Spinal Conditions
- Cord Syndromes
o Upper Motor Neuron Lesion
Results in spastic paralysis (persistent spasm and exaggerated tendon reflexes)
o Lower Motor Neuron Lesion
Results in flaccid paralysis (weakness or loss of muscle tone)
- Brown-Sequard’s Syndrome
o Loss of pain and temperature sensation opposite the side of lesion
o Tactile sensation remains intact
o Paralysis on side of lesion (ipsilateral)
- Central Cord Syndromes
o lower motor neuron lesion pattern
Weakness in hands
Normal leg functioning
o Radicular disease
Bone spurs
Herniated disc
Damage to segments below lesion
o DDX: Nerve root or Peripheral Nerve Disorder
Deficit becomes more profound if the lesion is more distal
Profound sensory and motor deficit in one extremity suggests a peripheral nerve lesion
rather than a root lesion
Headaches
- Intracranial Hypertension
o Headaches occur daily with nausea and vomiting
o Mental status changes and papilledema
o Request a CT/MRI scan promptly
- Meningeal Irritation
o Headaches with fever, (+) Brudzinski’s and/or Kernigs sign
o Request lumbar tap for CSF analysis
- Subarachnoid Hemorrhage
o Worst headaches the patients life
o Sudden onset of maximal intensity, hx of trauma
o Request CT/MRI scan and lumbar tap
- Temporal Arteritis (AKA Giant Cell Arteritis)
o Severe temporal headaches, night sweats, shoulder and pelvic pain, anorexia
o Palpatory tenderness over temple and scalp
o Sudden painless loss of vision, usually in one eye
o Associated with polymyalgia rheumatica, leads to blindness
o Request ESR, CRP, and temporal artery biopsy
- Raised Intracranial Pressure
o Mass lesion, pain worse waking, patient wakes at night from pain
o Pain worse sneezing, straining, bending, lifting, lying down (valsalva)
o Pain associated with nausea and vomiting
- Benign Intracranial Hypertension
o No mass lesion, morning headache, tinnitus, bilateral pappillodema, vomiting, visual
disturbances
- Meningeal Irritation
o Global/occipital headache, vomiting, exacerbation of sx with bright light
o Neck stiffness(nuchal rigidity), (+) Kernig’s sign, acute onset (bacterial meningitis)