Adult Onset of the Howard L.
Lipton, MD;
Thomas J.
Preziosi, MD; Howard Moses,
\s=b\ Two patients with the Dandy-Walker malformation first developed neurologic symptoms in adult life. In both patients there was normal motor and intellectual development during childhood, but as adults they had gradual evolution of brain stem and cerebellar signs and obstructive hydrocephalus. Following resection of the fourth ventricular cyst, both patients recovered. A review of the literature disclosed seven additional patients in whom the Dandy-Walker syndrome was first diagnosed in adult life. These cases illustrate that this congenital brain malformation may not only first become symptomatic later in life, but that it is possible for patients to remain asymptomatic. (Arch Neurol 35:672-674, 1978)
usually defined, the DandyWalker (DW) malformation con¬ sists of the following triad of neuropathologic abnormalities: cystic dila¬ tion of the fourth ventricle, partial or complete absence of the cerebellar vermis, and hydrocephalus. On the basis of an extensive series of patho¬ logically studied cases, it appears that hydrocephalus need not be a prerequi¬ site for diagnosis of this syndrome.1 In addition, a number of other central nervous system and somatic anoma¬ lies are not uncommonly associated with this syndrome.1 As with most congenital brain malformations, the DW syndrome usually becomes mani¬ fest at birth or in early childhood; As
II
Accepted
publication Sept 24, 1977. Departments of Neurology, Northwestern University-McGaw Medical Center, Chicago (Dr Lipton), and Johns Hopkins Hospital, Baltimore (Drs Preziosi and Moses). Reprint requests to Department of Neurology, Northwestern University, 303 E Chicago Ave, Chicago, IL 60611 (Dr Lipton). From the
for
Dandy-Walker Syndrome MD
patient may symptomatic from this developmental anomaly in adult life. Two patients who first developed
however,
an
occasional
first become
clinical symptoms from the DW syn¬ drome in adult life are the subject of this report. They both manifested gradual evolution of brain stem and cerebellar signs and obstructive hy¬ drocephalus. A review of the litera¬ ture has disclosed at least seven addi¬ tional cases. REPORT OF CASES Case 1.—A 34-year-old woman began having severe headaches in December 1969. She was treated symptomatically, and although the headaches persisted, she was able to continue working. In may 1970, she suddenly became nauseated and while vomiting developed diplopia, numbness of the right side of her body, and unsteadi¬ ness. The vomiting continued for several days; as it resolved, the symptoms other than diplopia also subsided. The diplopia was intermittent, did not result in much separation of images, and did not vary with direction of gaze. Medical and family history were unremarkable except for hypertension during one of four pregnan¬
cies.
Except for obesity, findings on general physical examination were normal. Blood pressure was 110/78 mm Hg; pulse, 80 beats per minute; respirations, 20/min; and temperature, 37 °C. The mental status was
normal. There were bilateral papilledema, a horizontal jerk nystagmus on lateral gaze with the fast component changing with fixation, incoordination of all extremities and a wide-based ataxic gait, hypalgesia of the right extremities, and right hyperre¬ flexia. Results of routine laboratory tests
normal. Roentgenograms showed spina bifida of C-7 and T-l vertebrae. Skull roentgenograms showed enlargement and
were
thinning of the sella turcica, asymmetry of the petrous ridges, thinning of the calvaría superior to the torcula herophili, and thick¬ ening of the left occipital bone. In addition, there
was a
circular calcification above the
right anterior clinoid process. Four-vessel angiography showed evidence of hydro¬ cephalus, an abnormally high position of the straight sinus, and a number of arterial abnormalities, including extreme redun¬ dancy and areas of aneurysmal dilation of
both internal carotid arteries and calcifica¬ tion in an ectatic loop of the supraclinoid portion of the right internal carotid artery. The left vertebral artery failed to fill from the left brachial injection; therefore, the basilar artery was not visualized. Both posterior cerebral arteries filled from the carotid system through the posterior com¬ municating arteries. Pneumoencephalography demonstrated air filling the basilar cistern, which communicated with a large subarachnoid cyst beneath the tentorium cerebelli, but air did not appear to enter the fourth ventricle. The CSF pressure was normal; no cells were seen, protein and glucose concentrations were normal, and cultures were negative. Occipital craniotomy and C-l laminectomy showed a large cyst that opened into the fourth ventricle and bridged the gap between normal-appearing cerebellar hemispheres. The cerebellar vermis was absent. The wall of this cyst was thickened and opacified, and choroid plexus was attached to its inner surface. A portion of the cyst was removed, allowing free communication between the ventricular system and the subarachnoid space as judged by injection of indigo carmine dye into the right lateral ventricle. Microscopic examination of the cyst wall showed only fibrous tissue, and a meningeal artery that was biopsied was histologically normal. The operative site was explored 12 hours postoperatively because of sudden onset of quadraparesis, and a small extradural
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collection of CSF was found to be compressing the upper cervical cord. This was evacuated and the durai closure made more nearly watertight. Subsequently the patient had an uneventful recovery, and VA years later she only had minor difficulty in balance. Findings at that time were normal except for horizontal jerk nystagmus on left lateral gaze and coarse rotatory nystagmus on right lateral and upward gaze. The patient was not able to perform tandem walking. Case 2.-A 49-year-old, right-handed woman developed right occipital headaches in the summer of 1966. In January 1967, vomiting began, especially with changes in position, and she noted some dizziness and unsteadiness when walking. She had expe¬ rienced gradual loss of hearing in the right ear, but episodes of true vertigo were denied. Medical and family history were negative. On admission to the hospital in February 1967, the patient was alert but acutely ill. Blood pressure was 164/88 mm Hg; pulse, 72 beats per minute; respirations and temperature, normal. Findings on general physical examination were normal. Neurologic examination disclosed only truncal and arm drift to the right and an unsteady gait on a normal base. Skull roentgenograms, EEG, nuclide brain scan, and lumbar puncture were normal. Audiometry showed a 60-dB hearing loss in the right ear; results of caloric testing were normal. Following an exploratory right tympanoplasty and stapedectomy, the pa¬ tient's hearing improved, and the other symptoms appeared to remit with reduc-
dysmetria on finger-to-nose testing, spastic paraparesis with hyperreflexia, patellar and ankle clonus, and extensor plantar responses. Routine blood tests, ness,
and
Symptomatic
16/M
Walker'
20/F
ICPt after neck exercises, ataxic gait, epilepsy since age 2 ICP, syncope, ataxia of right limbs, large
17/M
head ICP after minor head trauma, ataxia of left
Coleman and Troland5
Maloney* et al
(cur¬ study)
+
genogram*
Hydro¬
cephalus·
Outcome
5 yr
Recovered after
1 yr
Recovered after
3 wk
days after craniectomy craniectomy craniectomy
ICP, diplopia, nystagmus, right hypesthesia,
6
mo
Recovered after
49/F
ICP, right-sided deafness, left-sided ptosis,
18
mo
Recovered after
nerve
palsies, right
Not
given
sign, large head
23/F
72 M
indicates evidence of DW
tLateral and third ventricles.
bilateral
pyramidal
tract
Died 7
days after
craniectomy Well after
craniectomy No surgery
syndrome. (ICP). TIAs indicate
craniectomy
craniectomy
signs
Relapsing course typical of multiple sclerosis (confirmed pathologically) Chronic subdural hematoma 5 mo prior to diagnosis of DW syndrome TIAs.t also pressure sensation in neck and occiput
of acute increased intracranial pressure
Recovered after
craniectomy
ataxia
Gardner et al*
signs
Died 5
34/F
21/M
and
2 wk
ICP, bilateral 6th
Whitten et al'
tSymptoms
Symptoms
13/F
_ataxia, Asymptomatic cases D'Agostino et al'
*
Skull Roent-
_leg_ Babinski's
rent
Duration of
cases
Saris'
Lipton
The primary purpose of this report is to call attention to a delayed onset of symptoms due to the DW syn¬ drome. Both patients satisfied the criteria for the DW syndrome by having cystic dilation of the fourth ventricle, partial or complete absence of the cerebellar vermis, and hydro¬ cephalus. While long survival of surgi-
in Adult Life
Dandy-Walker Syndrome
Clinical Features
Sex
Source
COMMENT
chest and skull roentgenograms, Stenver's views of both petrous ridges, and brain scan were normal. Cervical spine x-ray films showed narrowing of the C5-6 inter¬ space, and an EEG revealed diffuse 4 to 5/sec slow waves. Pneumoencephalography showed a small amount of air in the basal cisterns, but there was no filling of the ventricular system. Ventriculography with injection of air followed by iophendylate Onset of
Age/
(Pantopaque) demonstrated symmetric di¬ lation of lateral ventricles, but the third ventricle, aqueduct, and fourth ventricle were not visualized. An occipital craniectomy and C-l laminectomy demonstrated a large midline cyst that displaced both cere¬ bellar hemispheres laterally. The cyst arose from the fourth ventricle, and what appeared to be the flocculonodular lobe of the cerebellum had been displaced anterosuperiorly, obliterating the rostral portion of the fourth ventricle. The cerebellar vermis could not be identified. The cyst was opened widely, and when the cerebel¬ lar structures were retracted there was free flow of cerebrospinal fluid from the aqueduct. Histologically, the cyst wall resembled normal arachnoid without an identifiable ependymal lining. There were no complications following surgery; three months postoperatively, she was walking quite well with high heels, which she had not been able to do for over a year. There was slight elevation of the optic disk margins. Eight months later, examination gave normal findings.
tion in what was suspected to be an exces¬ sive intake of diazepam (Valium). By June 1967, the right occipital head¬ aches again were severe and posterior cervical pain was present. She was experi¬ encing increasing difficulty in maintain¬ ing balance when walking. These symp¬ toms worsened, the neck became stiff, and flexion, extension, or turning of the neck produced severe throbbing headaches. Vomiting, with some episodes described as projectile, occurred just prior to admis¬ sion. On admission in October 1967, the patient was alert but acutely ill. She care¬ fully positioned her head to guard against sudden movement. Blood pressure was 180/90 mm Hg; pulse, 80 beats per minute; respirations, 16/min; and temperature, 37 °G. Movement of her neck produced severe pain. She used a wide stance when attempting to walk and was unsteady. There were bilateral papilledema, slight left ptosis, mild left central facial weak¬
transient ischemie attacks.
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cally treated children with the DW syndrome is now common, there are few examples of this entity present¬ ing first in adult life. Except for the fact that our patients first developed neurologic symptoms in the fourth and fifth decades of
presentation
was
life, their clinical
not dissimilar to
children with the DW syndrome. In both patients, motor and intellectual
development
were normal; thus, a congenital brain malformation was not initially suspected. Both patients had a chronic course (six and 18 months) characterized by brain stem and cerebellar dysfunction and even¬
increased intracranial pressure due to obstructive hydrocephalus. Neither patient had a large or abnor¬ mally shaped head, but head size was not measured; also, skull roentgeno¬ grams did not show changes typical of this syndrome. The diagnosis of the DW syndrome was suggested by the findings of angiography and/or air study and was confirmed during craniectomy. Following resection of the fourth ventricular cyst, which provided surgical communication be¬ tween the ventricular system and basilar cisterns, both patients have recovered almost completely. While there was no evidence of other parenchymal CNS anomalies in either patient, patient 1 had diffuse aneurysmal dilation and redundancy of both internal carotid arteries. Whether this is a congenital or acquired abnormality of the cerebral vasculature is unknown,- as is its rela¬ tionship with the DW syndrome. His¬ topathologic studies of the fourth ventricular cyst wall in both patients showed fibrous tissue without an ependymal lining, but in case 1 frag¬ ments of choroid plexus were identi¬ fied on gross examination. A review of the literature disclosed seven additional patients in whom the DW syndrome was discovered in adult life.1" They ranged in age from 13 to 72 years (Table). It should be empha¬ sized that the only cases considered as examples of the adult DW syndrome were those in which there was normal motor and intellectual development and at least cystic dilation of the fourth ventricle and dysgenesis of the cerebellar vermis. Thus, reported pa-
tually
tients were excluded from considera¬ tion if they were mentally retarded or had survived after surgical treatment of the DW syndrome in childhood. There were possibly four other adult patients in a recent clinicopathological study of 28 cases1; however, the ages given may not have reflected the age at onset of symptoms (M. N. Hart, MD, oral communication, 1977), and there was little clinical information. Therefore, these cases were not included. As illustrated in the Table, adults with DW syndrome either
developed neurologic symptoms as a result of this anomaly or remained asymptomatic. The symptomatic cases had in¬
creased intracranial pressure from obstructive hydrocephalus, which in two instances appeared to be precipi¬ tated by minor head trauma. Their courses ranged from two weeks to five years. These patients all had promi¬ nent neurologic symptoms and signs due to involvement of the brain stem and cerebellum. Two patients had large heads. All of the symptomatic patients with the DW syndrome recovered following surgery except for the patient reported by Sahs1 who underwent an emergency craniotomy in the 1930s. The asymptomatic cases were fortuitously discovered when investigated for another underlying neurologic process. Except for the patient described by D'Agostino et al,7 they did not have enlargement of lateral and third ventricles. Their patient appeared to have compensated hydrocephalus; she had a large head (63 cm), an enlarged ventricular system, and probably no symptoms of increased intracranial pressure. How¬ ever, she was described as being uncooperative, her neurologic illness was complex, and histopathologic ex¬ amination also showed lesions of multiple sclerosis. While only one of the symptomatic patients had eleva¬ tion of transverse sinuses and thin¬ ning of occipital bones, all of the asymptomatic patients had these roentgenographic findings. There¬ fore, skull roentgenograms alone may provide a good indication of the presence of the DW syndrome. Al¬ though our cases and those in the literature antedated the discovery and
of the computed tomographic scan in clinical medicine, it would seem that this would be the most direct test for diagnosing this anomaly. The precise developmental abnor¬ mality resulting in the DW syndrome is still unknown. However, we would agree with others1" that it seems simplistic to believe that mere failure of opening of the outlet foramina of the fourth ventricle could give rise to this complex brain malformation. The theory first expressed by Benda1" and demonstrated in an animal model of hydrocephalus by Brodai and co-work¬ ers11 of maldevelopment of the anteri¬ or region of the fourth ventricular roof (posterior medullary velum or anterior membraneous area) seems to be the most acceptable explanation of the pathogenesis of this syndrome at present. This has been extensively discussed in recent articles.1 While our material does not provide further insight into the pathogenesis of this syndrome, it does demonstrate that there is a more diverse spectrum of clinical involvement than formerly use
"
appreciated.
References 1. Hart MN, Malamud N, Ellis WG: The Dandy-Walker syndrome: A clinicopathological study based on 28 cases. Neurology 22:771-780, 1972. 2. Sacks
JG, Lindenburg R: Dolichoectatic intracranial arteries: Symptomatology and pathogenesis of arterial elongation and distension. Johns Hopkins Med J 125:95-106, 1989. 3. Sahs AL: Congenital anomaly of the cerebellar vermis. Arch Pathol 32:52-63, 1941. 4. Walker AE: A case of congenital atresia of the foramina of Luschka and Magendie: Surgical cure. J Neuropathol Exp Neurol 3:368-373, 1944. 5. Coleman CC, Troland CE: Congenital atresia of the foramina of Luschka and Magendie: With report of two cases of surgical cure. J Neurosurg 5:84-88, 1948. 6. Maloney AFJ: Two cases of congenital atresia of the foramina of Magenide and Luschka. J Neurol Neurosurg Psychiatry 17:134-138, 1954. 7. D'Agostino AN, Kernohan JW, Brown JR: The Dandy-Walker Syndrome. J Neuropathol Exp Neurol 22:450-469, 1963. 8. Whitten CA, Moyar JB, Wise BL: Hydrocephalus syndrome. Am J Dis Child 103:55-60, 1962. 9. Gardner E, O'Rahilly R, Prolo D: The Dandy-Walker and Arnold-Chari malformations: Clinical, developmental and teratological considerations. Arch Neurol 32:393-407, 1975. 10. Benda CE: The Dandy-Walker syndrome or the so-called atresia of the foramen of Magendie. J Neuropathol Exp Neurol 13:14-29, 1959. 11. Brodal A, Haughlie-Hanssen E: Congenital hydrocephalus with defective development of the cerebellar vermis (Dandy-Walker syndrome). J Neurol Neurosurg Psychiatry 22:99-108, 1959.
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