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Pseudoxanthoma elasticum A review of neurological complications.

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Pseudoxanthoma Elasticum: A Review
of Neurological Complications
A l e e m Iqbal, MD, Milton Alter, M D , P h D , a n d S e u n g h o H. Lee, MD
A case of pseudoxanthoma elasticum w i t h multisystem involvement is described. Neurological complications, as
reported i n t h e literature, are reviewed. T h e s e include cerebrovascular insufficiency, multiple lacunar infarcts,
aneurysms, subarachnoid and intracerebral hemorrhages, progressive intellectual deterioration, and psychic and
mental disturbance which may be due to cortical atrophy. Seizures occur m o r e frequently than in the general
population. Hypertension and alteration of cerebral vessels are the two basic pathophysiological mechanisms
responsible for t h e neurological complications of this disease.
Iqbal A, Alter M, Lee SH: Pseudoxanthoma elasticum: a review
of neurological complications. Ann Neurol 4: 18-20, I978
P s e u d o x a n t h o m a elasticum (PXE) is a rare hereditary
disorder with peculiar loosening of the skin. However, multiple systems including the n e r v o u s system
may also be affected. Complications of h y p e r t e n s i o n
and cardiovascular disease are t h e m o s t c o m m o n
causes of neurological deficits. Aneurysmal dilatation
of vessels [ 3 , 5 , 101, subarachnoid and intracerebral
A 54-year-old white woman was admitted to Temple University Hospital because of urinary incontinence and inability to walk for about six months prior to admission. She
appeared well nourished and normally developed. H e r
blood pressure was 190/100 mm Hg in both right and left
arms. The pulse was 72 beats per minute, regular, and equal
in radial, femoral, carotid, and temporal regions bilaterally.
There were multiple soft, chamoislike, yellowish plaques
with prominent creases over the skin of the neck, axillae,
and groin (Fig 1). The patient was alert and oriented to
person and place but not to time. She was unable to give an
adequate history nor could she perform any meaningful
cognitive functions. She had an inappropriate affect with
bursts of laughter and crying. Visual acuity appeared low.
Funduscopy showed disciform degeneration with pigmentation of macula, compatible with the end-stage process of
PXE (Fig 2). The cranial nerves were otherwise unremark-
able. She moved all four extremities but had inconsistent
weakness of the left side. There were bilateral brisk reflexes with extensor toe responses to plantar stimulation.
Sucking, snout, and grasp reflexes were present.
From early childhood the patient was considered a
spoiled, stubborn child. She did poorly at school and left in
the third grade. At 16 years of age she started to work as a
carpet weaver but was always considered a “slow worker.“
At age 17 she developed progressive loosening of the skin
of her neck, axillae, and groin. She had to stop working at
age 35 because of progressive deterioration of vision. In
1962, an ophthalmologist noticed angioid streaks in her
fundi. During the next 15 years she was treated for hypertension, failing vision, gastrointestinal bleeding, uterine
bleeding, and strokes involving both anterior and posterior
circulations. I n 1974 she fractured her ankle and had considerable difficulty in walking thereafter. She became progressively incoherent and deteriorated mentally. She had
been bedridden with bladder incontinence for six months
prior to her last admission.
O n e sibling died in infancy of unknown cause. The patient had 2 brothers and 5 sisters, all of whom had hypertension. O n e brother with similar skin changes died of a
heart attack. O n e sister had multiple strokes and inappropriate affect with diminishing vision prior to her death. H e r
mother died of cerebral hemorrhage.
About three weeks after admission the patient developed left homonymous hemianopia with gaze fixation
to the right. The left arm was weak, and she had brisker
deep tendon reflexes o n the left side and bilateral extensor
toe signs.
The EEG demonstrated frequent medium-voltage 2 to 4
and 5 to 7 Hz activity bilaterally, predominantly over the
right hemisphere. Frequent sharp waves were observed.
T h e radiological examination revealed a normal skull with
calcification of the pineal gland, tracheal calcification, ex-
From the Departments of Neurology and Radiology, Temple
University Hospital, Philadelphia, PA.
Address reprint requests to Dr Iqbal, Department of Neurology,
Temple University Hospital, Philadelphia, PA 19140.
hemorrhages [ 3 , 5,6], bilateral carotid occlusion with
bilateral collateral circulation t h r o u g h the mirabile
and carotid cavernous fistula, cerebral infarctions, and
multilacunar state [7] have been reported. In addition, cortical atrophy and d e m e n t i a , psychoneurotic
disorders [ l , 2, 4 , 8, 9, 111, and focal or generalized
seizures with and w i t h o u t electroencephalographic
changes [2, 4 , 5, 111 have been described.
Case Report
Accepted for publication Jan 6, 1978.
0364-5~34/7810004-0103$01.25@ 1978 by Aleem Iqbal
F i g 2. Fundus J-hozus di.iciform degeneration (arrowheads),the
end-stage o f P X E .
Fig 1. Neck andaxilla demonstrate prominent creases ovey the
skin, with plaque.i (arrows) spread through them.
tensive abdominal aortic calcification, and diffuse arterial
Calcification of upper and lower extremities. Serial com-
puted tomography demonstrated moderate enlargement of
the ventricular system and slight cortical atrophy. A complete blood count and serum electrolytes, including calcium and phosphorus, were normal. Blood sugar ranged
from 86 to 146 mg per deciliter o n different tests. Twohour postprandial glucose was 162, 128, and 100 mg per
deciliter, respectively, o n three different occasions.
Serological tests were negative. There was no evidence for
collagen vascular diseases. A skin biopsy demonstrated a
marked increase in branching, fragmentation, and calcification of elastic fibers in the dermis, characteristic of PXE.
PXE is usually an autosomal recessive disorder with
increased parental consanguinity [6] and a high incidence of affected siblings. However, autosomal
dominant and sporadic cases without any familial
predilection [ 8 ] have been reported. There appears
to be no racial preponderance.
Abnormalities of the blood vessels are common
and account for many of the serious complications of
the disease. T h e widespread calcification of the aorta
[7] and peripheral arteries, as present in our patient,
had been shown in the choroid plexus and in carotid
artery aneurysms bilaterally [ 101. Symptoms associated with vascular disease may be absent o r severe
depending upon the location of the affected vessel
and the degree of its involvement. T h e patient may
complain of paresthesia, numbness, or intermittent
claudication. Aneurysms often involve the cerebral
arteries with secondary complications [3, 5 , 101. Subarachnoid hemorrhage has been a major cause of
death [6].
Availability of C A T scanning offers an opportunity
to assess the presence of cortical atrophy and ventricular dilatation early in the course. Frequent association of prominent mental or psychiatric disturbances such as forgetfulness or impaired memory,
dull mentality, depression [ 11, psychoneurosis [9],
and mental deterioration [ 111all have been described
in association with PXE.
Changes in the eyes in PXE consist of angioid
streaks of the fundus due to ruptures in Bruck’s
membrane of the choroid which occur o n the basis of
degeneration of elastic fibers in the elastic lamina. In
later stages, the streaks are broadened by pigmentary
migration which surrounds the disc and radiates toward the periphery. Retinal hemorrhages are seen
frequently in the angioid streaks. Macular involvement or hemorrhages from the choriocapillaris may
impair central vision. No specific EEG abnormality
has been reported [ 111, but the incidence of seizures
is increased [Z].
Iqbal, Alter, and Lee: Neurological Complications of Pseudoxanthoma Elasticum
6. McKusick VA: Heritable Disorders of Connective Tissue. St
1. Carlborg U, Ejrup B, Gronblad E, et al: Vascular studies in
pseudoxanthoma elasticum and angioid streaks. Acta Med
Scand 166:Suppl 35O:l-84, 1959
2. Conner PJ, Juergens JL, Perry HO, et al: Pseudoxanthoma
elasticum and angioid streaks: a review of 106 cases. Am J
Med 30:537-543, 1961
3. Dixon JM: Angioid streaks and pseudoxanthoma elasticum
with aneurysm of internal carotid artery. Am J Ophthalmol
34:1322-1323, 1951
4. Eddy DD, Farber EM: Pseudoxanthoma elasticum internal
manifestations: a report of cases and a statistical review of the
literature. Arch Dermatol 86:729-740, 1962
5. Goto K: Involvement of central nervous system in pseudoxanthoma elasticum. Fol Psychiatr Neurol 29:263-277, 1975
20 Annals of Neurology
Vol 4
No 1 July 1978
Louis, The CV Mosby Company, 1966, pp 286-322
7. Messis CP, Budzilovich GN: Pseudoxanthoma elasticum: report of an autopsied case with cerebral involvement. Neurology (Minneap) 20:703-709, 1970
8. Robertson MG, Schroeder JS: Pseudoxanthoma elasticumsystemic disorder. Am J Med 27:433-442, 1959
9. Scheie H G , Freeman NE: Vascular diseases associated with
angioid streaks of retina and pseudoxanthoma elasticum. Arch
Ophthalmol 35241-250, 1946
10. Scheie HG, Hogan TF: Angioid streaks and generalized
arterial diseases. AMA Arch Ophthalmol 57:855-868,
11. Suerig KL, Siefert FE: Pseudoxanthoma elasticum and sickle
cell anemia. Arch Intern Med 113:185-193, 1964
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elasticum, pseudoxanthoma, neurological, complications, review
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