Present Illness: The patient is a 55 year old, white female with the rapid (over less than one week), painless onset of slurred speech and sialorrhea approximately four months prior to evaluation in the Department of Neurology, Baylor College of Medicine.
She relates her onset of symptoms as coincident with the administration of fexofenadine by her allergist for rhinitis. Her sialorrhea increased in severity despite discontinuation of this medication, and mild slurring of speech subsequently developed. Her symptoms then appeared to stabilize for a period of several weeks. She consulted her dentist, who did not detect any evidence of an intraoral cause of her difficulties, and referred her to a local neurologist for further evaluation. By this time, she had developed increasing sialorrhea, oral and tongue dryness, difficulty in swallowing her medications, and progressive speech disturbance. She also complained of increasing jaw pain which was relieved by low doses of amitriptyline. During the previous month, she had lost
On initial examination, her neurologist described dysarthria and tongue fasciculations, as well as easily elicited tendon reflexes in several areas (note previous history of diminished reflexes, below). A serum creatine kinase assay was 34 (reference range, 0-190 u/L), and a test for acetylcholine receptor antibodies was negative. An electromyographic study showed increased insertional activity in all muscles tested (R arm and leg; tongue), and occasional fasciculations in scattered muscles, but no fibrillations or positive sharp waves. A modified barium swallow documented significant impairment of the oral stage of deglutition with slight reduction of pharyngeal peristalsis, but no evidence of vallecular or pyriform sinus pooling, and no tracheal aspiration. Diet modification and a saliva substitute were recommended, and the patient was referred to the Department of Neurology for further evaluation.
On her initial visit to the neurology outpatient unit, three weeks after referral, the patient complained of increased dysphagia and weight loss, with difficulty swallowing food of any consistency, and multiple choking spells. She denied limb weakness but complained of generalized fatigue requiring rest periods by mid-afternoon. She denied diplopia, hearing changes or tinnitus, limb numbness or paresthesias, or urinary urgency/incontinence.
Past Medical History:
Allergies: Ciprofloxacin, ibuprofen, iodine, progesterone, sulfa drugs.
Medications: Saliva substitute; nasal cromolyn; azelastine nasal spray for rhinorrhea; Benadryl prn; weekly allergy shots; albuterol and beclomethasone inhalers; amitriptyline, Premarin; topical ketoprofen gel, Ensure.
Family History: Her mother died with Alzheimer's disease at age 69; her father died at age 40 of myocardial infarction. An aunt died of lung cancer.
Social History: Married for 15 years. College educated; worked locally in computer sales and most recently worked in telephone sales until increasing symptoms of the present illness forced her to stop working. Drinks 2-3 beers per day (reduced due to dysphagia).
Review of Systems: Dry skin and constipation since beginning amitriptyline. Intermittent headaches, with improvement since beginning amitriptyline. No history of fever, chills, night sweats, joint pain, nausea, vomiting, diarrhea, or other systemic symptoms. No history of malignancy.
General: Thin white female with obvious facial weakness, pleasant and interactive during the examination.
Vital Signs: Temperature 96.8 F; blood pressure 148/88 mmHg; pulse 80/min; respirations 18/min.
HEENT: No cranial abnormalities. Tongue dry and coated. Neck supple without lymphadenopathy.
Chest: Expiratory rhonchi and crackles with good breath sounds bilaterally.
Cardiovascular: Regular rate and rhythm with no murmurs; no jugular venous distention.
Abdomen: Scaphoid, soft, nontender, normal bowel sounds. Surgical scars consistent with history.
Extremities: Good peripheral pulses. No cyanosis, clubbing, edema, or atrophic skin changes. No joint abnormalities.
Mental Status: Alert and oriented; intact verbal fluency, repetition, and comprehension. Mini-Mental Status Examination score 29/30. Mildly dysarthric speech with mild impairment of labial and lingual sounds and moderate impairment of guttural sounds.
Cranial Nerves:
Cranial Nerves | Findings |
|---|---|
| I | Not tested. |
| II | Right pupil unreactive to direct and consensual light stimulation, but constricts with accommodation. Left pupil responds to direct and consensual light stimulation and to accommodation. Visual acuity 20/100 (R) and 20/40 (L). Visual fields grossly intact. Funduscopic examination normal, with no disc pallor. |
| III / IV / VI | Extraocular movements intact without nystagmus. |
| V | Normal sensation in V1-3 distributions. Corneal responses present and symmetric. Temporalis and masseter muscles appear decreased symmetrically. |
| VII | Perioral weakness but no facial droop noted. |
| VIII | Hearing intact. |
| IX / X | Palatal elevation and gag response present symmetrically. |
| XI | Symmetric mild weakness of sternocleidomastoid and trapezius muscles. |
| XII | Tongue atrophic and fibrillating but able to extrude in midline. |
Motor: Decreased muscle bulk in upper and lower extremities with fasciculations. Neck flexors 4/5; neck extensors 5/5 strength. Strength bilaterally in arms: deltoids 4/5, biceps 4+/5, triceps, wrist extensors & flexors 5/5, finger extensors and interossei 4/5, finger flexors 5/5. Strength bilaterally in legs: gluteals 5/5, iliopsoas 3+/5, hip abduction 4+/5, hip adduction 5/5, knee extension 5/5, knee flexion 4+/5, ankle dorsiflexion 4/5, plantar flexion 5/5, toe extension 4/5.
Reflexes: 2/4 in triceps and biceps; reflex spread noted from brachioradialis. Absent patellar and Achilles tendon reflexes. Plantar responses equivocal. Hoffmann response absent. Snout and palmomental responses present on the left; jaw jerk enhanced.
Sensation: Intact in upper extremities with distal hypoesthesia in legs: slight decrease in light touch perception distally; temperature sensation diminished to mid calf; vibration mildly decreased distally in feet; position sense decreased distally. Romberg test was positive.
Cerebellar: Intact finger-nose and heel-shin motions. Slight dysdiadochokinesis. No truncal ataxia but mild head titubation present. Impaired check of flexion movements bilaterally.
Gait: Normal base but decreased arm swing symmetrically. Falls to the left during tandem gait testing.
Email comments: