Present Illness: Patient #40 is a 33 year old Latin American female with progressive, episodic leg cramps and stiffness of about one year's duration.
She describes the insidious onset of episodes of cramps and stiffness in her legs, initially lasting about ten minutes. These episodes were unrelated to exercise or posture, but could be triggered or exaggerated by emotional stress. She never experienced any episodes during sleep. The duration of her episodes of stiffness and muscle spasms increased over time to about one hour in length. Over this period of time, she was evaluated by several physicians and given a diagnosis of an anxiety disorder, without specific treatment. Her symptoms subsequently worsened, with the appearance of persistent leg stiffness and muscle spasms affecting the back muscles, accompanied by difficulty with walking, with resultant falls. She had moderate pain in her neck and back muscles and severe pain in her leg muscles, particularly after severe episodes of muscle spasm. With progression of her symptoms, she experienced significant disability to an extent where she was entirely dependent on family members for all activities of daily living.
She did not have respiratory complaints, swallowing difficulties, involvement of her facial muscles, dizziness, visual, or sensory symptoms. She had no bladder or bowel incontinence, urinary retention, or constipation. She had no symptoms involving her upper limbs. There was no history of trauma prior to onset of her symptoms. She had no anorexia or weight loss.
Following an acute worsening of her clinical status, she was found to be in acute renal insufficiency attributed to rhabdomyolysis, and was admitted for treatment at a local hospital. She was subsequently transferred to the Neurology Service for further evaluation.
Past Medical History: Previously healthy, with no thyroid dysfunction or diabetes. No surgical procedures, medications prior to her illness, or known drug allergies. She had heavy menorrhagia but regular menses. She had no limitations of activity prior to the onset of illness, and normal childhood development.
Family History: Her paternal grandmother had insulin-dependent diabetes and her father had diabetes mellitus and hypertension. There was no history of neurologic or neuromuscular diseases, thyroid disease, or malignancy in the family.
Social History: She was married, worked as a homemaker but never outside the home. She had not traveled abroad recently. No history of risk factors for HIV or of tuberculosis exposure. She was a non-smoker and did not drink alcohol.
General: She is a well-built, pleasant lady, cooperative during the examination.
HEENT: No head trauma, ocular, or oropharyngeal abnormalities.
Neck: Exam showed normal curvature of spine and no thyromegaly.
Chest: Clear vesicular breath sounds were heard, and air entry was normal.
Cardiovascular: Regular heart rate and rhythm, with no murmurs or rubs. Pulses were normal.
Abdomen: Soft and non-tender, with no organomegaly.
Extremities: No edema, cyanosis, or clubbing.
Skin: Normal appearing, with no evidence of rashes or lesions.
Breast Exam: No masses were palpable, and no lymph nodes were felt in the axillae.
Mental Status: She was alert and fully oriented. Her affect appeared appropriate to the situation. Higher intellectual functions were normal. Mini-Mental Status Exam score was 30 of 30. There was no evidence of any constructional or ideomotor apraxia.
Cranial Nerves:
Cranial Nerves | Findings |
|---|---|
| I | Not tested. |
| II | Normal visual acuity and normal visual fields. Normal fundus exam. |
| III / IV / VI | Normal extraocular movements. |
| V | Normal sensation of face and normal strength of masseter and temporalis bilaterally. No trismus detected. |
| VII | Normal strength and symmetry of facial muscles. Negative Chvostek sign. |
| VIII | Normal Rinne and Weber bilaterally. |
| IX / X | Normal gag reflex and palatal elevation. |
| XI | Normal strength of sternomastoid and trapezius. |
| XII | Tongue is midline, with no atrophy or fibrillations. |
Motor: Normal bulk of all muscle groups was noted. Tone was increased throughout in both lower extremities with elements of both rigidity and spasticity on examination, and apparently dystonic posturing at the ankles. Strength: 5/5 throughout in all muscle groups of upper limbs. Strength bilaterally in lower limbs: iliopsoas 3/5, hamstrings 3/5, quadriceps 3/5, ankle dorsiflexion 3/5, and ankle plantar flexion 3+/5.
Reflexes: Tendon reflexes were grade 2/4 at biceps and triceps bilaterally. She had ankle and patellar clonus bilaterally. Plantar responses were flexor bilaterally. Superficial abdominal reflexes were present and symmetric bilaterally.
Sensation: Normal to touch, temperature, pinprick, vibration and proprioception in both upper and lower extremities. There was no evidence of a sensory level on a detailed examination.
Cerebellar: Normal finger to nose testing; no dysmetria or dysdiadochokinesis in her upper limbs. She was unable to perform heel to shin testing.
Gait: The patient was unable to walk and needed assistance on attempting to stand. Both lower extremities were extremely stiff and she was unable to bend her knees or ankles for this reason.
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