LETTERS

Value of C26 :0 Fatty Acid
Determination for the
Diagnosis of Atypical
Adrenoleukod y stroph y
Michel Philippart, MD," Marc R. Nuwer, MD,"
Wilhelm Mortier, M D , t and Hugo W. Moser, MD$

for ALD and may help in diagnosing the not so uncommon
atypical case.

"UCLA School of Medicine
Los Angeles, C A 90024
tUniwersity of Dusseldorf
4000 Dusseldorf 1, West Germany
$The Johns Hopkins Medical Institutions
Baltimore, M D 21205

References
A 10-year-old boy first experienced learning difficulties in
April, 1979. An abnormal gait then developed. Examination revealed impaired attention and memory, sensory
aphasia, incoordination and weakness of the left extremities, rotary nystagmus, and slurred speech. An electroencephalogram showed delta waves in the right occipital
area, and an audiogram revealed decreased central hearing.
He lost the ability to stand up and walk. In December,
1979, h e contracted mumps. Cerebrospinal fluid protein
was 29 mgldl with 6.7 mg/dl IgG, which later decreased to
2.7 mgldl. Adenovirus titers increased from 1 : 8 0 to
1: 1,000. A C T scan revealed slight cortical atrophy and
ventricular dilatation with periventricular low densities
centered on the occipital horns.
In April, 1980, the patient was noted to be abnormally
pigmented for the season. Vision was 20/40. His face was
rigid with a left central palsy. The upper extremities were
weak and hypotonic with dystonic posturing of the fingers
and coarse postural tremor. The legs were weak and spastic
and showed contractures. Adrenocorticotropic hormone
levels varied from 5 0 to 140 pglml (normal range at 4 PM,
10 to 50). Brainstem auditory and somatosensory evoked
potentials were normal. No visual evoked potentials were
seen with checkerboard pattern reversals, but this was
thought to result from noise associated with muscle activity. Ultrastructural study of the skin and sural nerve was
normal. Fibroblast C26:O fatty acids were 0.908 to 0.978
pg per milligram of protein (control, 0.066 ? 0.035), and
the C26: OK22 :0 ratio was 0.61 1 to 0.654 (control, 0.064
0.019). These abnormal values were in the range associated with adrenoleukodystrophy (ALD) hemizygotes

*

131.
This observation exemplifies common diagnostic difficulties. The family history was negative. There was no sign
of adrenal insufficiency. T h e increased adenovirus antibody titers and cerebrospinal fluid IgG suggested a viral
encephalitis. The patient's initial presentation with a leftsided syndrome illustrates that asymmetry does not rule
out a generalized disorder. T h e periventricular low densities demonstrated o n C T scan appear to be quite specific
for ALD [2]. Evoked potential tests showed no alteration
despite severe neuroradiological and clinical involvement.
Adrenoleukodystrophy has an unusually wide spectrum
of symptoms. T h e original finding of C26:O fatty acids in
brain cholesterol esters [ l ] has been shown to be a widespread abnormality involving many tissues, such as cultured
fibroblasts [3] and plasma (Moser et al, Neurology, in
press), lacking conspicuous storage o r functional impairment. Increased C26:O fatty acid level in cultured fibroblasts and plasma appears to be a very reliable marker

Farkas-Bargeton E, Sarrut S, Philippart M, Launay C: DCmyClinisation du systirne nerveux central associee h une atrophie cortico-surrenale. Rev Neurol (Paris) 117:627-641,
1967
Furuse M, Obayashi T, Tsuji S, Miyatake T: Adrenoleukodystrophy. Radiology (Syracuse) 126:707-710, 1978
Moser HW, Moser AB, Kawamura N, Murphy J, Suzuki K,
Schaumburg H, Kishirnoto Y: Adrenoleukodystrophy: elevated C26 fatty acid in cultured skin fibroblasts. Ann Neurol
7:542-549, 1980

Sneeze-Induced
Hemiparesis
Kenneth H . Fischbeck, MD,"
William G. Bradley, Jr, M D , PhD,t
and William 0. Bank, MD t
Fisher et al [l]and others [2, 31 have noted an association
between unruptured intracranial aneurysms and transient
ischemic attacks. W e recently encountered a patient with a
curious syndrome of sneeze-induced episodes of transient
hemiparesis who was found to have two aneurysms of the
left middle cerebral artery.
This 64-year-old right-handed man had a longstanding
history of headaches, and for several years he had been
aware of numbness of the right arm and leg. For six months
before admission, when he sneezed heavily he had the sudden onset of severe generalized headache followed within a
few minutes by slurred speech and a cold, heavy feeling and
weakness in the right arm and leg. The patient experienced
a dozen such episodes of sneeze-induced hemiparesis, and
on each occasion the symptoms resolved within one to
three hours. He had no episodes that were spontaneous or
precipitated by other factors. His examination was normal
except for a trace of weakness and diminished fine finger
movements in the right hand and decreased sensation to
light touch and pinprick over the right side of the body.
The cerebrospinal fluid was normal. A computerized tomographic brain scan (Fig 1) showed two small contrastenhancing lesions in the left sylvian fissure. Cerebral arteriography (Fig 2) revealed these lesions to be aneurysms
in the superior branch of the left middle cerebral artery,
Because of the patient's age and a coincidental colonic
malignancy, it was decided not to operate on the aneurysms.
Fisher et a1 suggested that embolization from an unruptured aneurysm may cause neurological manifestations, and
our patient's syndrome may well have had an embolic basis.

105

Fig 2. A L$t internal carotid angiogram showing the lesions to
be aneurysms of the superior branch of the lefi middle cerebral artery.
References
1. Fisher M, Davidson RI, Marcus EM: Transient focal cerebral
ischemia as a presenting manifestation of unruptured cerebral
aneurysms. Ann Neurol 8:367-372, 1980
2. Hoffman WF, Wilson CB, Townsend JJ: Recurrent transient
ischemic attacks secondary to an embolizing saccular middle
cerebral artery aneurysm. J Neurosurg 51:103-106, 1979
3. Stewart RM, Samson D, Diehl J, Hinton R, Ditmore QM: Unruptured cerebral aneurysms presenting as recurrent transient
neurologic deficits. Neurology (NY) 30:47-51, 1980

Lithium Therapy
in Torsion Dystonia
J. F. Marti-Masso, MD," J. A. Obeso, MD,"
N. Carrera, MD," W. Astudillo, MD,"
and J. M. Martinez Lage, M D t

Fig 1. CT brain scan demonstrating two enhancing lesions in
the left sylviun fissure.
However, the association of these episodes with the abrupt
Valsalva effect of sneezing suggests either a transient mass
effect on structures near the aneurysm or local hypoperfusion as more likely explanations. We are unable to find previous documentation of such an association.

"Department of Neurology
Uniiersity of Pennsylvania School of Medicine
Philadelphia, P A 19104
+Department of Radiology
i7niveriit.y o f California School of Medicine
San Francisco, C A 94143
106 Annals of Neurology

Vol l l

N o 1 January 1982

Torsion dystonia is a syndrome characterized by abnormal
movements and postures secondary to prolonged muscle
spasms. During the last three years we have successfully
treated a patient with idopathic adult-onset torsion dystonia.
A 44-year-old man presented in May, 1977, with abnormal movements and postures of the head and right arm.
Three years earlier he had first noticed that his head tended
to deviate to the right side. During the following months,
right head turning was constantly present and neck pain
and abnormal movements in the right arm developed.
There was no history of birth anoxia or drug intake, and the
family history was negative. Physical examination revealed
tonic spasm of the left sternomastoid muscle which led to
inability to keep the head upright and typical dystonic
twisting of the right arm. The rest of the examination
was normal. Routine blood tests, including copper metabolism, were also normal. The following drugs were
given unsuccessfully in an attempt to control the symptoms: haloperidol, carbamazepine, phenobarbital, levodopa-carbidopa, amantadine, pimozide, reserpine, chlorpromazine, benzhexol, deanol, valproic acid, baclofen,
and diazepam. Treatment with lithium was started in De-