Present Illness: The patient is a 33 year old, right-handed white male referred to the Neurology Service at The Methodist Hospital for evaluation of progressive tremors and gait instability, with a presumptive diagnosis of Hallervorden-Spatz disease. He describes two years of increasing slowness of movement, with progressive gait instability resulting in several falls. He also complained of tremors that started in his right hand, and spread to the left side. These tremors are exaggerated with sustained posture and with movement, and usually are worsened with fatigue. His wife, who accompanied him to the hospital, reports that his mentation is slow, and he has become quite forgetful. For the past six months he has been unable to drive his car, and he now needs minor assistance with activities of daily living.
He denies any headache, loss of consciousness, seizure activity, weakness, or numbness. He also denies receiving any prescription or over-the-counter medications other than acetaminophen. There is no history of ethanol, tobacco or illicit drug use. Two months prior to his present admission, he was evaluated by a local physician, who prescribed carbidopa/levodopa (Sinemet) for two months, without noticeable improvement in any of his symptoms.
Past Medical History: Migraine-type headaches (last headache episode was several years ago). Appendectomy (1985), without complications.
Allergies: No known drug allergies.
Medications: Acetaminophen, as needed.
Family History: Parkinson's disease in the patient's maternal great-aunt. His father has hypertension, but is otherwise healthy at age 73. His mother had a minor stroke at age 65. Two older brothers are healthy.
Social History: Married with three children, has worked as a welder for the past three years in the Port of Houston; and is still able to perform his job despite his tremors. There is no history of recent foreign travel.
Review of Systems: The patient denies head trauma, learning disabilities in school, visual changes, or hearing loss. He also denies fevers, chills, significant weight loss, chest pain, shortness of breath, abdominal pain or enlargement. There are no joint pains, skin rashes, jaundice, easy bruising or bleeding. The patient denies any major mood changes, anxiety symptoms, or treatment for psychiatric illness.
General: Well-developed, well-nourished and pleasant gentleman, in no acute distress.
Vital Signs: Temperature: 98.2 F; Heart rate: 70/min and regular; Blood pressure: 122/74 mmHg.
HEENT: Normocephalic with no evidence of head trauma. No scleral icterus noted. Neck: Supple; no lymphadenopathy.
Neck: Supple; no lymphadenopathy.
Chest: Clear to auscultation bilaterally.
Cardiovascular: Regular rate and rhythm, with no murmurs, rubs or gallops. No jugular venous distention is evident.
Abdomen: Soft, non-tender, and non-distended, with no hepatosplenomegaly. Normal bowel sounds are present.
Extremities: Normal distal pulses in all extremities; no edema, cyanosis or clubbing are evident.
Skin: Normal, with no rashes, bruises, or abnormal pigmentation.
Mental Status: Alert and oriented, but with slightly slowed responses. Folstein mini-mental status exam: 29/30 (missed one point for the correct date). Glabellar reflex habituates normally.
Cranial Nerves:
Cranial Nerves | Findings |
|---|---|
| I | Not tested. |
| II | Visual acuity: 20/20 bilaterally Visual fields: Full bilaterally to confrontation. Pupils: Round, and equally reactive to light. Funduscopy: No optic disc edema or retinal abnormalities. |
| III / IV / VI | Range of ocular movements intact, but with slow saccades replacing pursuit movements. No spontaneous or evoked nystagmus. Convergence intact. |
| V | Intact sensation to pinprick, light touch in the V1, V2, and V3 distributions. Normal bulk of temporalis and masseter muscles bilaterally. |
| VII | No facial weakness; however, there is diminished facial expression. |
| VIII | Intact to finger-rub and tuning fork tests (to 512 cps) bilaterally. |
| IX / X | Uvula midline; palate elevates symmetrically. Palatal and pharyngeal reflexes are intact bilaterally. |
| XI | Normal strength of sternocleidomastoid and trapezius muscles bilaterally. |
| XII | Normal strength of sternocleidomastoid and trapezius muscles bilaterally. |
Motor: No muscle wasting or fasiculations. Mild cog-wheel rigidity is evident in the upper extremities (Right > Left). Strength: 5/5 throughout. No pronator drift. Mild action tremor noted in the right arm, with a frequency of 3-4 Hz. (This tremor was brief, noted only on the first day of admission).
Reflexes: Tendon reflexes are symmetric, 2+ throughout. There is no reflex spread or clonus. Hoffmann and Babinski responses are absent.
Sensation: Intact throughout to pinprick, light touch, vibration and proprioception.
Cerebellar: No intention tremor; normal finger-to-nose, heel-to-shin, and rapid alternating movements.
Gait: The gait is mildly broad-based, fast-paced, and stiff. The patient is almost toe-walking, with his center of gravity thrown forward without falling. Retropulsion is evident with a backward push by the examiner. The patient is able to perform toe, heel and tandem walking.
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