SEMINARS IN NEUROLOGY-VOLUME 18, NO.

2 1998

Augenblickdiagnose
Willia~nW Campbell, M.D., M.S.H.A.

ABSTRACT
The process of making a diagnosis is integral to the practice of medicine, but diag-
nostic reasoning is rarely taught as a specific point. In most instances, experienced
clinicians use a method of generating and testing hypotheses, finally selecting the
hypothesis that best explains the clinical picture. Occasionally, especially distinctive
physical signs allow augenblickdiagnose, a term that means "diagnosis in the blink
of an eye." The process is too rapid to have followed a hypothesis testing method.
Similarly, key fragments of history often permit very rapid diagnosis. The ability to
make a snap diagnosis based on characteristic physical signs or snippets of clinical
information relies on familiarity with certain critical clinical information. The reader is
invited to try to augenblickdiagnose several cases.
Keywords: Neurologic examination, neurologic diagnosis, diagnostic reasoning

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The process of medical diagnosis in general and
neurologic diagnosis in particular is frequently difficult,
especially in enigmatic and perplexing cases. Neuro-
logic patients are often more complicated and difficult
than other patients, and crisp and accurate diagnosis in
such cases represents the acme of the diagnostician's art.
Sir William Osler said, "There are only two sorts of doc-
tors: those who practice with their brains and those who
practice with their tongues."l Neurology, more so than
any other medical discipline, is a thinking business.
The most effective treatment regimens rest on a
foundation of accurate diagnosis. Otherwise, the clini-
cian is reduced to guesswork and empiricism. As impor-
tant as diagnosis is to the practice of medicine, few clini-
cians are ever actually trained in how to do it. We stumble
to it on our own. As medical students, we are taught how
to gather information, to perform the "complete history
and physical" over and over until, hopefully, proficiency
is attained. At the same time, we learn about diseases:
clinical presentation, pathology, pathophysiology, and
treatment. At some point in the course of years of train-
ing, a switch occurs from the information-gathering
mode to a process of generating and testing hypotheses.
For a lucky few, this process is seemingly intuitive. For
most, the switch to hypothesis testing occurs naturally as
the knowledge base expands and an increasing number of
hypothetical explanations become apparent for a given
set of signs and symptoms. Most clinicians have no idea
how they come up with a final diagnosis, and they would
be at a loss to explain the process.

Objectives
Upon completion of this article, the reader should be able to ( I ) recognize the importance of key clinical features that can lead to selected
diagnoses and (2) list a series of neurological disorders in which specific examination features or laboratory findings are virtually
diagnostic.
Accreditation
The Indiana University School of Medicine is accredited by the Accreditation Cogncil for Continuing Medical Education to sponsor
continuing medical education for physicians.
Credit
The Indiana University School of Medicine designates this educational activity for a maximum of 1.0 hours credit toward the AMA
Physicians Recognition Award in category one.

Disclosure
Statements have been obtained regarding the author's relationships with financial supporters of this activity. There is no apparent conflict
of interest related to the context of participation of the authors of this article.
A

Department of Neurology, Medical College of Virginia, Hunter Holmes McCuire Veterans Affairs Medical Center,
Richmond, Virginia
Reprint requests: Dr. Campbell, Neurology (1271, McCuire VAMC, 1201 Broadrock Road, Richmond, VA 23249.
Copyright 0 1998 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001. Tel.: +I (212)
760-0888. All rights reserved.
 SEMINARS IN NEUROLOGY VOLUME 18. NUMBER 2 1YYK

According the DeGowins, the clinician thinking Table 1. Examples of Some Common General
through a diagnostic problem maintains an "imaginary Medical Conditions Susceptible to
slate" listing the diseases considered as hypotheses.2 The Augenblickdiagnose: Diseases and Conditions We
average clinician carries four or five diseases on the Can Often Identify at a Glance
imaginary slate at any one time, but up to 15 may appear Down's syndrome
there during the course of the clinical encounter. Thyrotoxicosis with exophthalmos
This use of the history and physical examination to Acromegaly
generate hypotheses and create a differential diagnosis Dupuytren's contracture
leads to a diagnostic strategy of focused searching to ul- Alopecia areata or universalis
Vitiligo
timately prove or disprove a clinically suspected diagno- Herpes zoster or simplex
sis. There are other diagnostic strategies. Sequential Jaundice
searching ,involves moving from the most probable to Syphilitic chancre
the least probable explanation for a given complaint. Achondroplasia
Chickenpox
Thus, all headache patients are presumed to have tension Scleroderma
headaches, since that is ostensibly the most common Advanced ankylosing spondylitis
cause. Shotgunning involves considering all diagnostic Xanthelasmas of the eyelids
possibilities equally and ordering every test available in Stevens-Johnson syndrome
an unfocused search. Diagnosis by exclusion is part and Onychomycosis
External hemorrhoids
parcel of these other processes, but it is treacherous un-
less the differential diagnosis is complete.1
Occasionally, the opportunity arises to employ an-
other diagnostic method: augenblickdiagnose. This Ger- Most physicians probably play augenblick at the
man term roughly translates into "diagnosis in the blink mall and in the queue at the supermarket. There is a lot

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of an eye." It describes a finding or phenomenon so of pathology among the citizenry. Many things are im-
characteristic that the differential diagnosis is essentially mediately recognizable to the general physician; some
limited to one possibility. The diagnosis is immediately examples are given in Table I. The problem is, do you
obvious and is rendered in a time too short to have per- say anything when your checkout person at the hardware
mitted any amount of hypothesis generating and testing.2 store has blatant thyrotoxicosis? Some examples of
Radiologists refer to a process similar to augen- things neurologists may instantaneously recognize in the
blickdiagnose as "Aunt Minnie." A neuroradiologist clinic, or out about town, are listed in Table 2.
once phoned about a patient's MRI, saying, "We have An article such as this can illustrate only a few ex-
Aunt Minnie here." After explaining that the reference amples but hopefully will spark interest in the process.
was not to an actual person, she went on to explain that The interested reader is invited to augenblickdiagnose
the MRI appearance was so characteristic and unmistak- the following cases. Answers are presented at the end.
able that there was only one reasonable diagnostic possi-
bility. Aunt Minnie looks only like Aunt Minnie; she
doesn't look like anybody else, and nobody else looks CASE VIGNETTES
like her. As long as one knows Aunt Minnie, she can be
immediately recognized and is confused with no other Cuse I . An elderly gentleman with severe difficulty
individual. No clinician can augenblickdiagnose an en- ambulating because of arthritis and chronic obstructive
tity with which he or she is not familiar, no matter how
characteristic the presentation of the patient. Alas, the
constant reminder in medicine: it is impossible to know Table 2. Examples of Some Relatively Common
too much. Neurological Conditions Susceptible to
Augenblickdiagnose is a visual recognition exer- Augenblickdiagnose: Conditions Often Immediately
cise. It has become an occasional intellectual game at the Recognizable, Perhaps from Across the Room
Medical College of Virginia, as house staff and faculty Parkinson's disease
challenge each other to "come augenblick this." Permu- Charcot-Marie-Tooth disease
tations have arisen. Taking linguistic liberties, the Neurofibromatosis
Speech Pathology section gave Grand Rounds on "Ear- Tuberous sclerosis
genblickdiagnose," presenting recognizably characteris- Sturge-Weber disease
Bell's palsy
tic speech disorders such as spasmodic dysphonia. Ear- Spastic hemiplegia
genblickdiagnose has also been used to refer to a snap Spastic diplegia
diagnosis made with minimal information, often over Essential tremor
the telephone. Stretching the metaphor, a patient with Hydrocephalus
Meningomyelocele
aminoaciduria and a diagnostically distinctive odor, Craniosynostosis syndromes
such as maple syrup urine disease, may present the op- Cervical dystonia
portunity for "smellenblickdiagnose." The point is the Carotid-cavernous fistula
same with all of these. It is familiarity with, and recogni- Complete third nerve palsy
tion of, certain physical findings or historical vignettes Myotonic dystrophy
FSH dystrophy
that are so characteristic of a particular clinical syn- Gargoylism
170 drome as to permit almost instantaneous diagnosis.
Figure 1. Hands in case 1 . See text for details.

Figure 3. Mother holding hypotonic infant, case 3. See

text for details.
pulmonary disease. who habitually used a walker, pre-
sented with weakness and wasting in the ulnar distribu-
Cnsr 3. Figure 3 shows an infant suffering with hypo-
tion of his left hand. Brief physical examination revealed
tonia and Seeding difficulties held by his mother. A glance

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the finding shown in Figure 1 . which immediately ex-
at the mother explains the etiology of the child's hypotonia.
plained the hand atrophy.
C ~ i s c4. A young woman gradually developed the
Ccr.sr 2. An elderly gentleman hospitalired with an
facial appearance shown in Figure 4. The physiognomy
~ ~ n r e l a t eprocess
d had the facial appearance shown in
is distinctive of what syndrome?
Figure 2. Only one process could produce this pattern of
Crisc 5 . An elderly woman presented with confu-
facial scarring.
sion and disorientation. Holding the arms outstretched

Figure 4. Facial appearance in case 4. See text for de-

Figure 2. Facial scarring in case 2. See text for details. tails. 171
 SEMINARS IN NEUROLOGY
Figure 5. Extremity drift in case 5. See text for details.
Figure 6. Buttock in case 6. See text for details.
172 Figure 7. MRI in case 7. See text for details.
V O L U M E 18. NUMBER 2 1998
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Figure 8. Facial appearance in case 8. See text for
details.
resulted in the posture shown in Figure 5. Where is the
lesion?
Ccr.se 6. Figure 6 demonstrates the buttock of a
woman who was unable to bring her knees together or
cross her legs. The opposite buttock looked identical.
This appearance is pathognomonic of a particular type o f
myopathy.
Cuse 7. An MRI scan depicts an example of "Aunt
Minnie" in Figure 7.
Ctr.se 8. A retarded woman is shown in Figure 8.
Her head is abnormally shaped and suggests a diagnosis.
Hcr skull film is shown in Figure 9 and her angiogram in
Figure 1 0 . What is the diagnosis'!
Ccr.ve 9. A middle-aged woman with a long history
of bladder control difficulties noted the gradual evolu-
Figure 9. Skull film in case 8. See text for details.
 Figure 12. Patient in case 10, attempting to make a fist.
Figure 10. Angiogram in case 8. See text for details. See text fordetails.

tion of weakness and incoordination of one foot while

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jogging. She had the cutaneous lesion shown in Figure
11, which suggested the etiology of her foot and bladder
problems.
Case 10. The man in Figure 12 is trying to make a
fist with his right hand. He presented with weakness and
numbness of the hand following a surgical procedure on
the arm.
Case 11. The man whose right arm is shown in Fig-
ure 13 had fallen from a tree and fractured his left arm,
which was in a cast when he attempted to climb a verti-
cal ladder up the side of a truck, hoisting himself from
rung to rung with his right arm. While doing what
amounted to a series of one arm pullups, he experienced
sudden pain in the right arm, followed by weakness and Figure 13. Arm in case Marked area indicates sen-
numbness. Figure 13 maps an area of sensory loss and sory loss, See text for details,
demonstrates other findings. What has happened?
Case 12. A middle-aged woman was admitted from
the emergency room with a suspected posterior circula-
tion stroke after experiencing trouble with walking. On
an attempt to elicit her ankle reflexes, unusual knots were
found over the Achilles tendons bilaterally, as shown in
Figure 14, which immediately explained her problem.

Figure 11. Skin of the lower back in case 9. See text for
details. Figure 14. Ankles in case 12. See text for details.
 SEMINARS IN NEUROLOGY
Table 3. Diagnosis by Snippet, of Some Less Common Entities: The Column on the Left Contains a
Fragment of Key Information That Suggests the Diagnosis in the Right Column
Snippet
An elderly man whose legs feel shaky and wobbly on standing,
with improvement as he begins to walk.
A young athlete who develops right foot drop immediately after
kicking a football.
A middle-aged man with painless enlargement of one shoulder.
A young man with frequent, migratory paresthesias, especially
involving the perioral region and a strip up the back of the
head. Iced tea feels as though it burns his tongue. Onset of
symptoms after an apparent episode of severe
gastroenteritis.
An elderly man with pain and paresthesias in the legs at night,
accompanied by back pain, arousing him from a sound
sleep, relieved by standing, walking about or sleeping in a
semirecumbent position.
A middle-aged woman with episodes of sudden, transient
numbness of one side of the tongue produced by turning the
head ipsilaterally.
A young man admitted with atrial fibrillation is found to have
severe flexion contractures of the elbows. He is also unable
to bend his neck forward more than a few degrees.
An elderly man with spontaneous, unprovoked, and unwelcome
erections when walking.
A middle-aged, hypertensive man developed vertigo and a
peculiar, burning facial pain, which felt as if salt and pepper
were being thrown in his face.
An elderly woman with the frequent experience, on drifting off
to sleep, of the sensation of a loud, sharp banging noise and
bright lights going off in her head, which she finds very
disturbing.
There are many examples of diagnoses made after
hearing a fragment of essential, key information: "ear-
genblickdiagnose." Common, classic stories in neurol-
ogy include, for example, the sudden headache during
intercourse, suggesting subarachnoid hemorrhage; the
nocturnal acroparesthesias, suggesting carpal tunnel
syndrome; the scintillations of migraine; the postpartum
focal seizures of cortical vein thrombosis; and the dizzi-
ness on head movement of paroxysmal, positional ver-
tigo. Table 3 contains some more challenging snippets
that suggest a particular diagnosis. The following illus-
trate examples of snap diagnoses made over the tele-
phone or on hearing a case presented without the patient
ever having been seen.
Case 13. A registered nurse noted that her 35-year-
old brother had sleep apnea as she sat at his bedside im-
mediately after he had undergone cataract extraction.
She suggested that he seek medical attention for a sus-
pected sleep disorder. This scenario suggested a diagno-
sis.
Case 14. A pediatrician called to say that he had a
4-year-old in his office who was experiencing trouble
walking and was holding her head tilted over to one side.
This description suggested a diagnosis, which was
shortly confirmed by imaging studies.
Case 15. A physician called from the ER, saying he
was seeing a middle-aged diabetic man who had a red,
swollen, painful ear along with a dense, peripheral 7th
174 nerve palsy, both on the right.
VOLUME 18, NUMBER 2 1998
Diagnosis
Orthostatic leg tremor (shaky legs syndrome) 16
Punter's palsy; stretch-induced peroneal neuropathy at the
fibular head due to forceful inversion and plantar flexion of
the ankle.12
Syringomyelia.17.18
Ciguatera intoxication.19
Vesper's curse; restless legs syndrome due to lumbar spinal
stenosis.20
Emery-Dreifuss muscular dystrophy.22
Lumbar spinal stenosis, with neurogenic claudication and
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spontaneous priapism.23
Salt and pepper in the face syndrome; brainstem ischemia.24
Exploding head syndrome.25
ANSWERS
Cuse 1. The patient has ulnar neuropathy at the
wrist. The callus indicates chronic, repetitive trauma to
the hypothenar eminence as a result of leaning heavily
on his walker. This has resulted in a compression neu-
ropathy involving the deep palmar branch of the ulnar
nerve, with weakness and wasting in the hand. Ulnar
neuropathies in the wrist and hand due to repetitive
trauma are well reported, especially in bicyclists. They
can also be an additional source of morbidity in patients
with chronic medical conditions that limit mobility and
cause reliance on canes or walkers.3
Case 2. The patient has suffered a past episode of
herpes zoster ophthalmicus with ocular involvement and
has residual postinflammatory hypopigmentation, which
impressively outlines the cutaneous field of the oph-
thalmic division of the trigeminal nerve.
Case 3. Both mother and infant suffer from my-
otonic dystrophy. Affected families and individuals are
often unaware they have the disease, as in this case.
When the condition is transmitted by the mother, the
syndrome of infantile myotonic dystrophy may occur.
Affected infants may have severe hypotonia and feeding
difficulties and a characteristic tenting of the upper lip,
which is well shown here. They often mature into re-
tarded and significantly disabled individuals.4 The tent-
ing of the upper lip merely reflects severe facial weak-
ness and is not specific for myotonic dystrophy.5 Typical
myotonic discharges on EMG may be difficult or impos-
sible to demonstrate. The diagnosis of the infantile form
of myotonic dystrophy is frequently made by examina-
tion of the parents.
Case 4. The patient has hemifacial atrophy, or the
Parry-Romberg syndrome. There are atrophy of the skin
and subcutaneous tissues of the left side of the face. In
this instance, there is also atrophy of the left side of the
tongue.5 The etiology is unknown. It may represent a
form of localized scleroderma.6
Cuse 5. The patient's left arm is drifting out and up.
She proved to have a large tumor involving the right
parietal lobe. The finding of "up-drift" suggests a pari-
etal lobe lesion, in contrast to the much more common
pronation and down-drift seen with corticospinal tract
lesions. The upward drift is ostensibly the result of loss
of position sense. This does not explain why the drift is
typically up and slightly out, seldom laterally or down.
Case 6. This is an example of "Talwin myopathy."
The patient suffers with failed back syndrome. The
laminectomy scars are visible. The buttock scarring was
bilateral and symmetric. She has chronic pain and has
been treated with frequent intramuscular injections of
pentazocine (Talwin). This agent causes a fibrosing,
sclerotic, atrophic myopathy with contractures, which
has resulted not only in the deep pitting and scarring
seen here but in an inability to adduct either leg past the
midline. Intramuscular meperidine and heroin can pro-
duce the same picture.7
Case 7. The patient has Hallervorden-Spatz dis-
ease. The MRI shows a characteristic and unmistakable
picture of hyperintensity (due to gliosis) surrounded by
hypointensity (due to iron deposition) involving the
globus pallidus, creating the "eye of the tiger" appear-
ance.8 This resemblance is even more impressive if the
MRI image is viewed upside down.
Case 8. The patient has frontal bossing due to
long-standing hydrocephalus. The skull film dem-
onstrates a large, calcified mass in the center of the
head. The angiogram demonstrates a jet of contrast
from the arterial circulation into a large vein of Galen
aneurysm. The aneurysmal mass effect in the region of
the posterior third ventricle leads to obstructive hydro-
cephalus.',
Case 9. The patient has a giant hairy patch, which is
the cutaneous marker for an underlying, occult spinal
dysraphism with a tethered cord. The conus medullaris
lay at the level of L4, and she was treated with surgical
release. Midline posterior skin lesions may indicate an
underlying developmental defect of the neuraxis, includ-
ing various combinations of hyperpigmentation, hy-
popigmentation, hypertrichosis, acrochordons, dimples,
lipomas, dermal pits, hemangiomas, or teratomas. As in
this case, patients may eventually develop difficulties
with bowel or bladder control, recurrent urinary tract in-
fections, muscle atrophy, foot deformities, weakness,
pain, or decreased sensation in the lower extremities.10
Cuse 10. The patient has a median neuropathy in
the upper arm. When he attempts to make a fist, the me-
dian innervated finger flexors and thenar muscles fail to
function, creating a characteristic posture. The patient
underwent right retrograde brachial arteriography for an
unrelated indication, then developed arteriographic com-
plications and underwent a vascular surgical procedure
in the upper arm (note the scar), which was in turn com-
plicated by hematoma.11
Cuse 11. The patient has suffered an injury to the
musculocutaneous nerve. He has marked wasting and
weakness of the biceps and brachialis muscles and sen-
sory loss in the distribution of the lateral antebrachial cu-
taneous nerve. Incomplete recovery followed surgical
decompression. The musculocutaneous nerve pierces a
hiatus in the coracobrachialis muscle to reach the biceps
and brachialis. Nerve damage has been reported after
heavy upper extremity resistive exercise, presumably
through narrowing of the hiatus due to vigorous contrac-
tion of the coracobrachialis.l2
Case 12. The patient has cerebrotendinous xan-
thomatosis, a rare, recessive sterol storage disease due to
a deficiency of sterol-27-hydroxylase. Cholestanol and
cholesterol accumulate in various tissues, predominantly
in the nervous system and in xanthomas, which develop
on tendons, especially the Achilles tendon. Patients de-
velop progressive neurologic dysfunction, primarily
cognitive impairment and cerebellar signs, along with
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tendon xanthomas, cataracts, and atherosclerosis.~~ Such
bulbous swellings on the Achilles tendon are very char-
acteristic and unmistakable.
Case 13. The patient has myotonic dystrophy,
which causes a host of systemic manifestations, includ-
ing cataracts, insulin-resistant diabetes, hypogonadism,
mitral valve prolapse, and cardiac conduction defects.
The posterior subcapsular cataracts are common and
may require cataract surgery at an early age. Sleep apnea
and excessive daytime sleepiness are common. Although
the sleep apnea is central in most patients, upper airway
obstruction may play a role in some.14
Case 14. The patient has a brainstem tumor, in this
case a medulloblastoma. Head tilt is a troubling symp-
tom in a child and, when combined with ataxia, suggests
the possibility of a mass lesion involving the posterior
fossa.
Cuse 15. The patient has malignant external otitis,
which is due to a Pseudornonus infection of the external
ear canal, mastoid, and skull base. It occurs most often
in elderly diabetic patients. Severe ear pain, drainage,
edema, and exudate of the pinna are characteristic. Fa-
cial nerve paralysis may occur because of involvement
of the petrous bone. Without aggressive treatment, sys-
temic invasion, neurologic sequelae, and death may en-
sue. The combination of evidence of external otitis and a
facial nerve palsy immediately suggests the diagnosis.ls
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