Alston Peripheral Nerve Pathology Flashcards
A 45-year-old man presents with a bilateral steppage gait (lifting legs up excessively to clear the toes), foot numbness, and difficulty with buttons. His birth history was normal, and early motor milestones were achieved on time. He began walking at 13 months, and was noted to be a “toe-walker.” As a child he ran toward the middle to the back of his peers and was never able to ice skate because of weak ankles. He first noted problems with walking in his early twenties, tripping often and falling once a month, and has started having problems with his hands in the last 5 years. Nerve conduction studies show symmetrical nerve slowing to 23 m/second (normal >50 m/second) with mildly reduced amplitudes and prolonged distal latencies. Sensory responses are absent. His father was noted to have the same symptoms, and genetic testing reveals a duplication of the PMP22 gene. What does this individual have?
Charcot Marie Tooth (CMT1A)
A 30-year-old woman presents with severe leg weakness and distal arm weakness. Her birth history was normal and early motor milestones were achieved on time. She began to have trouble with foot-drop and falling in her preschool and school-age years. The foot-drop and weakness in the proximal muscles progressed through her teens, so that walking up stairs became very difficult. She required a wheelchair for primary ambulation at 20 years of age. On examination, her hands are atrophied and contractures are present causing an “en griffe” appearance, and weakness extends proximally. The sensory examination is mostly normal. Nerve conduction studies show no motor or sensory responses. However, she has brought studies from childhood showing normal conduction velocities and severely reduced amplitudes, indicative of axonal degeneration. She has no family history of weakness or neuropathy. Genetic testing reveals a mutation in the MFN2 gene. What is the patients most likely diagnosis?
CMT1B
A 20-year-old woman with no significant past medical history presents with lower back pain and bilateral foot and hand tingling. Her symptoms rapidly progress over 4 days to include lower extremity weakness to the point that she is unable to mobilize her lower extremities. She reports coryzal symptoms 2 weeks ago. On examination, she has 0/5 power in her lower extremity with areflexia, but despite the paresthesias she does not have sensory deficits. Her aminotransferases are elevated, and LP reveals mildly elevated protein with no cells and normal glucose. She weighs 70 kg and her admission vital capacity is 1300 mL, maximum inspiratory pressure is -30 cmH2O, and maximum expiratory pressure is 35 cmH2O. What is the patients most likely diagnosis?
Guillian Barre
A 25 year old patient comes into the office complaining of bilateral foot tingling that has been slowly moving up her legs. She mentions having a cold three weeks ago. Physical exam shows areflexia. CBC shows elevated WBC for T-cells. Biopsy shows demyelinating neurons. What is the most likely diagnosis. What is the patients most likely diagnosis?
Guillian barre
Female patient come into the office complaining of bilateral weakness in her legs that has been spreading up to her stomach. A specimen was taken and given to the pathologist. The pathologist reports that the nerves are enlarges and there is an onion bulb structure. What is the most likely diagnosis?
Dejerine Sottas
A 55-year-old man presents with a 4-month history of numbness in both feet and hands. Soon after this numbness, he developed symmetric leg and arm weakness. The weakness progressed such that on the day of admission he could not lift himself up from the commode or raise his arms over his head. He notes mild shortness of breath, but no bowel or bladder incontinence, dysarthria, dysphagia, or diplopia. General examination is normal. Neurologic examination shows normal mental status and cranial nerves. He has symmetric 2-3/5 (MRC scale) strength proximally and 3-4/5 strength distally in his arms. His legs have 3-4/5 strength proximally and 4-5/5 strength distally. Sensation is moderately decreased in a stocking-glove distribution to pin, touch, and vibration, with mild proprioceptive loss in his toes. Deep tendon reflexes are absent and Babinski reflex is negative. Coordination is intact except as related to weakness. His gait is hesitant with mild lordosis but otherwise normal. He sways mildly in the Romberg position (a test that detects the ability to maintain a steady standing posture with eyes closed). the pathologist examines a sample and states that there is an onion bulb structure and that this is a demyelinating polyneuropathy. What is the most likely diagnosis?
Chronic inflammatory demyelinating polyneuropathy (CIDP)
A single nerve that is damaged/diseased most likely due to restriction. What is the general term for this type of pathology.
Mononeuropathy
Multiple nerves that are damaged/diseased in a symmetric fashion. Typically ascending (length dependent)
Polyneuropathies
Several neurons are damaged in a haphazard fashion. What is the general term for this type of pathology.
Mononeuritis multiplex
nerve root and peripheral nerve that are damaged/diseased and cause diffuse symmetric symptoms in proximal and distal regions of the body. What is the general term for this type of pathology.
Polyradiculoneuropathies
A middle-aged man with type 2 diabetes presents with shooting and burning pain in his feet and lower legs, most severe at night, associated with numbness and allodynia (pain from stimuli that are not normally painful). In the past 6 months, the pain has become much worse and disturbs his sleep. He has been told that his blood glucose is borderline elevated and has been advised to start diet and exercise. He also takes a medication for hypertension and recalls that his cholesterol is elevated. What is the patients most likely diagnosis?
Diabetic neuropathy
A 54-year-old woman with type 1 diabetes notices she has developed an ulcer on the plantar aspect of her right foot. She cannot recall any particular injury and has been walking as normal with no pain. Physical examination of the foot reveals a painless ulcer over the metatarsal head. She also complains of feeling tired and has noticed she is particularly dizzy and unsteady on her feet when she stands up. BP measurements in the supine position, repeated after 2 minutes of standing, reveal an abnormal fall in systolic BP, from supine to standing position, of 32 mmHg. Pathology shows axonal demyelination and remyelination. The small vessels are thickened with a larger than normal basement membrain. What is the patients most likely diagnosis?
Diabetic neuropathy
A 75-year-old man with an unremarkable past medical history presents with a complaint of new headache for the past 2 weeks. He notes that the headache is localized over the left temple. Two weeks prior to the onset of headache, he noted pain and stiffness in the shoulders and hips, which made it difficult to rise from bed in the morning but progressively improved throughout the day. A few days prior to his evaluation, he noted jaw pain on chewing, and notes in retrospect that he had begun to avoid certain foods (such as steak) because of the associated discomfort. Laboratory evaluation demonstrates evidence of inflammation, including an elevated ESR, C-reactive protein, and platelets. The complaints of new headache and jaw claudication. What is the patients most likely diagnosis?
Giant Cell Arthritis
