Case 1 A 65 year old college professor came to the neurology clinic referred by her family physician because of frequent falling. She had a history of
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1 Peripheral Nervous System
2 Case 1 A 65 year old college professor came to the neurology clinic referred by her family physician because of frequent falling. She had a history of non-insulin dependent diabetes mellitus for 20 years. Her chief complaint was trouble descending di stairs, but not climbing them. She also noted that she caught her foot frequently on things like rugs, curbs and steps.
3 Case 1 On examination, the positive findings were mild distal weakness in her wrists and hands and moderate weakness of her legs. Her right ankle was weaker than her other extremities, especially plantar extension. There was mild atrophy of the anterior tibialis bilaterally, worse on the right. She diminished appreciation of all sensory modalities in a stocking-glove glove distribution.
4 Case 1 What is the localization of the lesion? What is the most likely diagnosis? What are the neurologic complications of diabetes mellitus? What treatment would you recommend for this patient?
5 Case 2 A 50 year old postman is referred to your office because of pain in his right hand. He feels the pain in an ache, but sometimes it can be sharp. The pain seems to be related to moving the wrist, but is worse on arising in the morning. The pain radiates into his thumb and first two fingers. It began insidiously as pins and needles about 8 months ago and has gradually increased. Now it is occasionally awakens him from sleep. If he shakes his hand, it feels better. It also feels better when he has had a vacation or several days off from work.
6 Case 2 His physical and neurological examination is normal except for mild atrophy of the right thenar eminence, weakness of the oppens policis, and hypesthesia in the distribution of the median nerve on the right.
7 Case 2 What is the localization of this lesion? What is the differential diagnosis? What other compression neuropathies do you know? Which diagnostic tests and treatment would you recommend for this patient?
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13 Case 3 A 36 year old woman presented to her family doctor because of premature balding. Her physician noted that the patient was having trouble opening doors and jars because her hand got stuck when she gave a maximum effort. It had never bothered her because her father had the same problem and had told her that it ran in the family. The physician referred the patient to a neurologist for evaluation.
14 Case 3 On exam the patient t was noted to have frontal balding and a hatchet facies because of marked narrowing of her mandible and lower maxilla. Her neurological exam was within normal limits except for moderate distal weakness in all four extremities with some muscle wasting in her forearms, hands, forelegs and feet. Her reflexes were 2+ and symmetrical and her sensory examination was normal.
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16 Case 3 What is the localization of this lesion? What is the genetic defect? Which h concomitant t conditions aside from muscle weakness can you expect in this patient? t?
17 Table 1. Reported Correlation between Phenotype and CTG Repeats in DM1 and CMyD CTG A ge of Repeat Onset Age of Death Phenotype Possible Clinical Signs Size (Years) (Years) Premutation None 38 to ~49 Normal Normal M ild Mild m yotonia 50 to ~ normal Cataracts H yperinsulin ism Classical W eakness ~100 to 10 to Myotonia ~1000- Ptosis 1500 Cataracts Frontal Balding Cardiac arrhythm ia Foot drop Sleep apnea Pregnancy complications Ophthalmoplegia Sm ooth m uscle involvem ent: dysphagia, constipation, diarrhea Congenital Cognitive deficits Infantile hypotonia ~1000 to Birth to Respiratory complications Mental retardation Talipes equinovarus >2000 Adapted from Mathieu et al 5 and de Die-Smulders et al. CTG repeat sizes overlap b e tween ph enotypes. Redman et al. reported a few congenital cases with repeats between 730 and Does not include neonatal deaths.
18 Case 4 A 6 year old boy was referred to pediatric neurology because of delayed motor milestones. The mother said that he was less active than his younger sister, and that he had increasing difficulty climbing stairs. The patient t had a maternal uncle who died of pneumonia at the age of 20 and who was confined to a wheelchair the last several years of his life because of muscular dystrophy. y
19 Case 4 On neurological exam his mental status was appropriate for age. On motor testing he had moderate to severe hypotonia with moderate proximal weakness. His calves were hypertrophied and his DTR s were diminished.
20 Case 4 What is the relevance of the above signs and symptoms? What is the diagnosis? What is the Grower s sign? How do you describe the waddling gait? What is the genetic basis of this disease? What are the diagnostic tests? How do you manage this case and what is the most common cause of death?
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22 Case 5 A 23 year old female patient is seen in the neurology clinic because of diplopia and difficulty swallowing. The patient t relates that the diplopia appeared first and was transient first but lately is permanent. She sees double when she looks to the right and the objects are side by side. She also has noticed lately that both eyelids droop as she gets tired. She has problem chewing and sometimes she has difficulty getting the food down. Her voice has also changed lately. Some of the symptoms improve or disappear with rest.
23 Case 5 The neurologic examination showed a young female who has a normal sensorium. The cranial nerves showed asymmetric ptosis, s, worse on the right eye. There was weakness of the lateral rectus muscle of the right eye. There was a snarl when the patient tried to smile and the speech became nasal as the patient continued to talk. The muscle strength in the upper limbs was 4/5 but normal distally. The muscle stretch reflexes were normal and the sensory examination was normal.
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25 Case 5 What are your diagnostic considerations? How do you confirm the diagnosis? Is there a blood test that can confirm the diagnosis? i What do you expect to find on the EMG?
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