Case History #170
Date of Consultation: 11-22-1983
HISTORY OF PRESENT ILLNESS:
This 44-year-old right-handed white female housewife was referred for
neurologic evaluation of her unsteadiness and loss of balance.
The patient states that her symptoms began five years ago (1978), when
she had the gradual onset of gait unsteadiness and loss of
balance. Over the past five years, these symptoms have
progressively worsened. Around the same time, she began to notice
diplopia at a distance, which was horizontal in nature and occurred
mainly when she was driving. This has remained essentially
stable, neither worsening nor improving. Approximately two years
ago (1981), the patient noted slurring of her speech and difficulty
swallowing, which was worse when she tried to swallow liquids as
opposed to solids. This problem also slowly worsened over the
past two years. Approximately one year ago (1982), she noticed
the gradual onset of clumsiness of the hands and occasional urinary
incontinence while asleep.
FAMILY HISTORY:
The patient has a strong family history of a similar
syndrome. The earliest relative with similar signs and symptoms
was her maternal grandmother who came to the United States from
Ireland. This grandmother was afflicted with the same problem, as
was one of her sisters. The grandmother had nine children, five
of whom were not afflicted with the problem and four of whom
were. One of the afflicted children was the patient’s
mother, who began having difficulties with unsteadiness in her
forties. The patient’s mother had a sister who had nine
children, none of whom came down with the problem. She also had a
brother who had two children, neither of whom have this problem.
The patient has a sister who also began having similar symptoms at
about 47 years of age.
NEUROLOGICAL
EXAMINATION:
Mental Status Exam: No deficits of
orientation, speech, or memory were present. Her mood appeared to
be depressed.
Cranial Nerves: Sensation of
smell was intact bilaterally. Visual acuity was J2 O.U. without
her glasses. Visual field and funduscopic examinations were
unremarkable. External ocular movements were full without
nystagmus or diplopia. Pupils were equal, round, and reactive to
light and accommodation. Sensory and motor functions of the Vth
cranial nerve were normal. There was no facial weakness.
Hearing was intact bilaterally. XIth cranial nerve functions were
normal. Examination of the palate revealed a weakness of the
right palate with elevation of the uvula toward the left. The
tongue appeared slightly atrophic and fasciculations were
present. The patient’s speech was slow, slurred, and
explosive in nature. She spoke very slowly as if attempting to
enunciate each syllable individually.
Motor System: There was no
evidence of focal or generalized muscular atrophy. There were no
fasciculations. Muscle tone and power were normal in all four
limbs. There were no spontaneous involuntary movements seen.
Reflexes:
Deep tendon reflexes were equal and symmetric except for absent ankle
jerks. Plantar reflexes were extensor bilaterally.
Sensory System: All
modalities of sensation, including cortical sensations, were normal,
except for mildly decreased vibration in both lower limbs
distally. Joint position sense was less well perceived in the
lower limbs than in the upper limbs, although it was performed
accurately.
Cerebellar Function: Cerebellar
testing revealed an intention tremor in all four limbs with
finger-to-nose and heel-to-shin testing. There was dysmetria
present in all four limbs. Rapid alternating movements were
performed dysrhythmically. A mild degree of truncal ataxia was
present when the patient sat with her eyes closed and her arms
outstretched.
Gait and Stance: Regular gait
was performed on a widened base, and the patient was unable to walk
unassisted. She preferred to hold onto my arm on one side and
have her cane on the other side. No spasticity was present.
Tandem gait was impossible, and the Romberg test was not performed.
Questions
1.
Involvement of which pathways account for the patient’s findings
on sensory examination?
2. What accounts for this patient’s difficulty with
speech? What is the term that describes her speech pattern?
3. Involvement of which structures account for the findings on
cerebellar examination?
4. What accounts for this patient’s gait disorder?
5. This patient’s illness constitutes a classic neurologic
syndrome. What is the name of this syndrome?
6. In general, what type of pathologic process is involved in
this case?
7. What diagnostic procedure(s) would you undertake at this point?
