Biomedical subjects
Publications and source records attributed to A Vighetto.
A 33 year-old woman with multiple sclerosis developed bilateral palatal myoclonus. Rotatory pendular nystagmus and gaze-evoked nystagmus were present and analyzed by electro-oculographic recordings. Magnetic resonance imaging demonstrated abnormal signals in the pons. To our knowledge, this is the first report of palatal myoclonus in the course of a definite case of multiple sclerosis.
Three patients with adult-onset neuronal-ceroid lipofuscinosis (Kufs' disease) are presented. Two cases were familial (autosomal recessive inheritance) and 1 case was possibly sporadic. The main clinical feature was progressive deterioration of cognitive functions. In 2 siblings, aged 37 and 41, dementia was associated with personality and behaviour changes, suggesting a psychotic disorder and with dysarthria and tic-like dyskinetic movements. In a third patient, dementia was only associated with an asymptomatic pigmentary retinal degeneration. CT scan revealed diffuse cerebral atrophy in all cases. Diagnosis was established by brain biopsy in 2 cases. Autofluorescence emission and absorption spectra from the abnormal pigment was studied and was not found contributive.
Spatial contrast sensitivity was measured in 110 patients with multiple sclerosis (definite = 72, probable = 22, possible = 16) as part of a routine evaluation in a neuro-ophthalmological clinic. Results were compared with those of 37 normal controls matched for age. The test was abnormal in 71 p. 100 of patients. Contrast sensitivity was attenuated for 97 p. 100 of the eyes with optic neuritis and visual acuity drop, for 60 p. 100 of the eyes with recovered optic neuritis and for 36 p. 100 of the non affected eyes in the cases of unilateral optic neuritis. Among the 57 patients with normal visual acuity and no history of optic neuritis, 62 p. 100 had abnormal findings. Globally, contrast sensitivity was reduced on the whole spatial frequency range in cases of current optic neuritis, and mostly on the high or high and medium frequencies in the other cases. Our study confirms that spatial contrast sensitivity is the most sensitive of psychophysical methods to detect subclinical visual impairement in multiple sclerosis. Comparison with VEP's was performed in 66 patients. Both tests were roughly equally sensitive, but findings were concordant in only 63 p. 100 of the cases. The use of both VEP's and spatial contrast sensitivity increases the detection of latent optic neuritis.
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From a series of 15 consecutive patients with a normal-pressure hydrocephalus examined over 2 years. 10 showed frank improvement with oral acetazolamide. The drug was a first-choice treatment in 5 cases and was given up after a spinal tap in 5 cases. Clinical response occurred even in the most severe cases, although it was slightly less impressive for intellectual impairment than for gait or bladder disturbances. Tolerance was excellent with a daily dose of 250 to 500 mg. The benefit remained stable on a more than 1 year follow-up in 8 cases. We suggest that acetazolamide should be tried in patients with normal pressure hydrocephalus prior to considering shunting.
Neck pain and torticollis are very common symptoms, but they may reveal an intracranial or cervical neurological disease. Such diseases are easily diagnosed when these two symptoms are associated with others, but in some rare cases, and especially when it is isolated, torticollis may be mistaken for common neck pain. This is what happened in 21 cases and in some patients the neurological disease had been present for a very long time before it was diagnosed. Prior to admission, most patients were treated with massages, cervical collar or manipulations which sometimes resulted in deterioration. A search for atypical features of neck pain and torticollis should avoid delays in diagnosis.
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The differential diagnosis of Alzheimer's disease is a problem that arises in different circumstances. At an advanced stage of the disease the symptoms are so typical that the clinical diagnosis can be made immediately. Complementary examinations (i.e. essentially computerized tomography) are performed to exclude other causes of amnesia and dementia, notably curable dementias. The diagnosis may be more difficult at the early stage of the disease in patients with only slight disorders of memory or certain types of depression. The same applies to cases with unusual presentation, focal symptoms, episodes of confusion, or delirium and hallucinations.
A case of giant, thrombosed, non haemorrhagic aneurysm of the distal portion of the left vertebral artery is reported. The patient came to medical attention with an acute cervical pain after a minimal cervical traumatism and a diagnosis of torticollis from rheumatologic cause was made. In fact, a few weeks before, he had suffered three episodes of right homonymous hemianopsia. Subsequently, hiccup, vomiting, orthostatic dizziness with postural hypotension appeared, suggesting a medullary lesion. CT scan showed a round, heterogeneous high-density lesion near the fourth ventricle. Angiography was normal. MRI showed an oval mass in the fourth ventricle, between the medulla and the cerebellum. Surgery found an aneurysm of the end of the left vertebral artery.
We report two clinico-pathological cases with an initially hidden brainstem tumour presenting as chronic hydrocephalus of "idiopathic type". Diagnosis was established respectively one and two years after a successful shunting procedure, as repeated CT scan was performed because of gait deterioration. The first case was a bifocal glioblastoma invading the leptomeninges of the posterior fossa and spinal cord, and resulting in a communicating hydrocephalus. The second case was an ependymoma of the fourth ventricle leading to e non-communicating hydrocephalus. Rarity of such cases is emphasized.
Cartilaginous tumours represent 0.16% of all intracranial tumours; among them 14% are chondrosarcomas (Ch-S). A majority (56%) arise from the skull base, especially from the spheno-occipital and spheno-temporal synchondroses. The others develop at the level of the dura mater convexity, falx and choroid plexuses, probably from ectopic cartilages or mesenchymatous cells with multiple potentialities. Parasellar Ch-S originate from the spheno-temporal synchondrosis and expand inside the cavernous region. With 21 published cases, they represent 51.2% of the 41 skull base Ch-S and 28.7% of the whole 73 intracranial primary Ch-S. The authors report a recent case of such a parasellar Ch-S, revealed by a left progressive, and finally total, ophthalmoplegia. The responsible mass, which eroded the lateral part of the sella turcica, was shown partially calcified and not enhanced by contrast medium at CT-scan, and was avascular on angiogram. The tumour, which was identified as a low grade myxoid Ch-S, could be entirely removed through an intradural pteriono-temporal approach. After a two-year follow-up, the clinical status was unchanged (total ophthalmoplegia) and the CT-scan did not show any sign of recurrence. The 21 cases of parasellar Ch-S published in the literature are reviewed.
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A magnetic resonance imaging study was performed in three symptomatic members of two families with a diagnosis of acetazolamide-responsive familial paroxysmal ataxia. A selective atrophy of the cerebellar vermis, mostly of the anterior part, was demonstrated in the three cases. The first ample documentation of a neuroanatomical abnormality in this condition was achieved in this study.
Visually directed arm movements have been studied by film recordings in 10 patients with optic ataxia resulting from unilateral lesions of the parietal region, in 3 cases on the right and in 7 on the left. Half of the patients also underwent visuospatial perceptive tests. The results indicate the following. (1) Optic ataxia is a specific visuomotor disorder, independent of visual space misperception. (2) The proximal and the distal components of the movements are equally affected as shown in reaching and hand orientation tasks. (3) The percentages of spatial and orientation errors quantified, respectively, in these two situations show a different distribution across the different hand-field combinations according to the side of the lesion: whereas the right-damaged patients show a deficit essentially related to a field effect, the left-damaged patients show in addition to the latter an impairment related to a hand effect. These findings suggest that the 2 types of visuomotor mechanisms responsible for the proximal and distal components of visually-directed arm movements are controlled by the parietal cortex and that there should exist a hemisphere asymmetry in the functional organization of these mechanisms. (4) Reconstruction of the lesions drawn from CT scans in 8 of the patients shows a salient and constant involvement of the posterior parietal cortex, always including the intraparietal sulcus and either the superior part of the inferior parietal lobule or more often various parts of the superior parietal lobule. The weak co-occurrence of optic ataxia and hemispatial neglect, and their different lesion sites, indicate a double dissociation between these two symptoms.
The authors report the case of a patient having suffered a section of the oculomotor nerve during the excision of a tumor located in the tentorium incisura. The nerve was immediately sutured (end to end anastomosis). After 18 months, a partial recovery of the function of the nerve was seen clinically and on EMG. Ptosis had disappeared and adduction of the eye reappeared. An analysis of available data on the suture of oculomotor nerves is then given: reparation of the third nerve in animals and man give variable and partial results. Partial recovery and aberrant regeneration are explained by the fact that this nerve innervates many muscles and by the absence of ultrastructural systematisation. On the contrary, some still rare studies have indicated that the suture of the fourth and sixth cranial nerves give better results probably because these nerves have a simple ultrastructural organization, are purely motor and innervate only one ocular muscle.
Twenty nine cases of acute inflammatory brachial neuropathy were collected from 1969 to 1985. Only five cases could be considered as definite Parsonage Turner's "shoulder girdle" syndrome. The twenty four other cases were atypical with respect to this entity and were classified as symptomatic, evolutive, biological and/or associated forms. Symptomatic variants were present in twenty cases, consisting in distal or global motor deficit, or in painlessness. Evolution was atypical in four cases, with no recovery of motor deficit or relapsing course. Thirteen cases had abnormal CSF, usually with increase of protein content. Association with cutaneous manifestations or systemic diseases was found in nine cases. Beyond their individual differences, these twenty nine cases shared a common general profile of clinical presentation and evolution. This led to recognize the nosological relationships of these atypical cases with Parsonage-Turner's syndrome and to emphasize the similarities with Guillain-Barré syndrome.
A 31 year-old patient suffered from a subacute and major dementia, sixty months after whole brain irradiation with 54 grays for a pinealoma. Clinical features and biological investigations led to a diagnosis of hypothalamic insufficiency. A dramatic clinical recovery followed therapy with hydrocortisone and thyroxine. An hypothalamic radionecrosis and a vascular mechanism are presumed.
Analysis of the visual field using Friedmann's analyser Mark I and color study in 85 multiple sclerosis patients. Static perimetry of the central visual field and test batteries (Ishihara plates, 15 Hue Standard, 15 Hue of Lanthony) for acquired color vision defects were performed in 85 multiple sclerosis patients (61 definite, 12 probable, 12 possible cases). Results in patients were compared to data obtained in 53 control subjects matched for age. 64% of the 85 patients and 52% of 48 patients with no history of optic nevritis showed visual field abnormalities and/or color vision defects. Comparison with VEP was available in 50 patients. While 10 patients had abnormal VEP and normal static perimetry and coloration tests, 5 patients had the reverse findings.