An infant of a diabetic mother lived 13 days after birth. She had a small dysplastic 12.6 gm. brain, partly forming a frontal encephalocele. The uncleaved forebrain contained a mass of poorly organized heterotopic cerebellar cortex. The cerebellum itself had normal lamination, but was small and continuous with the dysplastic tissue. The ventricular system was absent except for a few midline ependymal rosettes, and the cerebral cortex was not developed. The cerebellar dysplasia resembled a proliferative and invasive lesion by its rostral extension.

Checkerboard pattern reversal visual evoked potentials (VEPs) have proved useful in the confirmation of optic nerve disease in patients with multiple sclerosis (MS). Recently, evidence of orientation-specific loss in contrast sensitivity and the presence of orientation-specific visual evoked potential (VEP) deficits in MS patients has been obtained using sinusoidal gratings as stimuli. This study reports the presence of orientation-specific VEP delay in MS using the conventional checkerboard pattern presented in two orientations: normally oriented (check condition) or diagonally oriented (diamond condition).

Peak latency values of the N70 and P100 components of the VEP were statistically analyzed using appropriate ANOVA and nonparametric statistics. As a group MS patients showed significant VEP delays under check and diamond pattern conditions. However, individual subject analysis revealed that about 20% of the MS population show VEP delay to only one pattern orientation. It was shown that by including a diamond pattern condition the diagnostic yield of VEP delay in these clinically definite MS patients was increased 11% over that obtained with check stimulation alone.

We present a working classification of recessively inherited ataxic syndromes based on the use of simple tools available to every clinician: a good history (particularly pinpointing the age of onset) and a good neurological examination (simplified to the verification of the presence of ataxia, deep tendon reflexes in the knee, optic nerve, retinal and/or 8th nerve signs). In the three groups of disorders (non progressive, intermittent or progressive) patients can be hyper/normo reflexic, or they can be hypolareflexic. Six principal types of progressive ataxic disorders are further delineated by the age of onset. Sub-types depend on the presence or absence of eye and ear signs, whereas eponymic or regional denominations are used only for simplicity while awaiting exact delineation of the biochemical defects.

One hundred multiple sclerosis (MS) patients were compared to healthy controls to determine the prevalence of diabetes mellitus in their families. Significantly, more MS patients than controls were diabetic or reported at least one first degree relative (parent, sibling, child) with diabetes. The relationship between MS and diabetes persisted when second degree relatives (grandparents, aunts and uncles) were taken into consideration.

A greater percentage of MS patients with another MS relative were diabetic or reported a first degree relative with diabetes mellitus than MS patients without an MS relative. However the difference was not statistically significant. Nor was there a significant difference when percentages reporting either a first or a second degree relative with diabetes were compared.

The brains of 18 twins dying in the perinatal period showed a variety of lesions. Eleven had subependymal cell plate hemorrhage which had ruptured into the lateral ventricles in five. Five had periventricular damage. Three had anoxic neuronal damage. One acardiac monster had bilateral cerebral infarction. One pair had unequal sized brains, probably due to unequal intrauterine nutrition. Twins have a high perinatal mortality and morbidity; as well, intrauterine events may alter brain growth and development in each twin unequally, so they are an imperfect model to study the effect of genes and environment on intelligence.

The authors report a case of Charcot-Marie-Tooth disease that mimicked Friedreich’s ataxia and featured impaired tendon reflexes in the limbs, incoordination mimicking cerebellar disease in the extremities, extensor plantar responses on both sides, bilateral foot deformity, impaired position sense in the toes, absent vibratory sense in the distal parts of the legs and minimal distal weakness with wasting. Motor conduction velocity in the upper limbs was substantially reduced.

Other cases similar in nature reported in the literature resemble spino-cerebellar degeneration in general, and Friedreich’s ataxia, in particular. It is emphasized that the natural history, EMG, motor conduction velocity studies and examination of other affected members of the family permit the correct diagnosis to be made in such cases. It is also emphasized that patients similar to the one reported here may also resemble, and should be differentiated from, cases of familial dorsal column ataxia (Biemond type). Stress is put upon the fact that when Charcot-Marie-Tooth disease mimicks spino-cerebellar degeneration, substantial slowing of motor conduction in the upper limbs is generally sufficient to establish the diagnosis.

The relation between Friedreich’s ataxia and Charcot-Marie-Tooth disease is reviewed and it is concluded that these two disorders are distinct clinical and pathological entities.

Topographical variations in the endogenous content of dopamine were studied in the rat caudate-putamen. For this purpose, a high performance liquid chromatography with electrochemical detection procedure for the determination of norepinephrine, epinephrine and dopamine in nervous tissue samples is described. Tissue preparation required only homogenization in acidic solution and centrifugation prior to application to the chromatograph. Detection limits in the low picogram range were found for the catecholamines separated. This assay was used in combination with a micropunch dissection technique. The performance of this analytical technique is illustrated by the detailed mapping of dopamine content in 35 subregions of the rat caudate-putamen. The distribution of dopamine varies along the major axis of the nucleus.

Thiamine and folate levels in blood and cerebrospinal fluid (CSF) were determined by microbiological assays in 23 control subjects and 11 phenytoin-treated epileptics. There was no significant difference between the two groups for serum and CSF folate levels. There was, however, a statistically significant difference between the groups for both whole blood thiamine and CSF thiamine levels. Epileptic patients being treated with phenytoin had lower values than control subjects (p < 0.001)

The preliminary results based on a three year study on the evolution and management of scoliosis in Friedreich’s ataxia are presented. Thirty-two patients were followed in the Neuromuscular Disease Clinic at Sainte-Justine Hospital where standardized spinal radiographs were taken periodically with the Scoliosis Chariot and the Throne.

Pathomechanics — Between the age groups I (5 – 10 years) and II (10 – 15 years), a substantial increase in the Cobb values occurs. Associated with it, an increase was observed in the thoracic and thoraco-lumbar projected surface area indices. The relative torsion between the thoracic and lumbar segments was associated with a sudden increase in the Cobb measurements.

A computer program which generates a tri-dimensional display of the spine from the coordinates obtained from the standardized radiographs has been adapted to study the importance and influence of the thoracic torsion on the progress of the scoliosis and on the evolution of the total spinal deformity.

Management — Prevention of the progression of established curves was our main objective. Careful examination of the spine, depending on the age of the child, in our preliminary study, stimulated early orthopaedic treatment in any curve of 20° or more. There was always concern for curves of 30° or more. In the growing child, bracing which was recommended is now under a more thorough investigation. The use of spinal pacemakers is being clinically evaluated.

In the older child, the curve was usually stable after sixteen years of age. Surgery was usually attempted in curves over 40° in the growing child. The same curve was usually stable after the growth period.

For the non-ambulatory patients, the present study suggested the prescription of a molded seat with the following characteristics: i) a posterior lumbar support, ii) low thoracic lateral supports and Hi) a slight inclination of the seating system. This was presumed to be beneficial in maintaining stability of the spine.

Clinical and biological aspects of a case of Mollaret meningitis are reported. Some of the typical characteristics observed in the CSF of this rare entity will be discussed.

Benign familial neonatal convulsions are a rare genetic seizure disorder inherited as an autosomal dominant trait. They consist of brief episodes of seizures, recurring during the first few days or weeks of life in otherwise normal babies; their prognosis is good. We report a family in which at least 12 members in three generations presented with this condition; they all had an excellent outcome.

In an attempt to clarify issues of brainstem dysfunction and hearing thresholds in autistic children, we studied the Auditory Brainstem Responses (ABRs) in 32 children who clearly fit within the criteria of autism established by the National Society for Autistic Children (1977). ABRs were recorded between Cz and ipsilateral ear in response to click stimuli. Interwave latencies and auditory threshold in each ear were determined. Of the 32 children, 11 had moderate hearing loss (8 bilaterally) and 3 had severe to profound hearing loss, all bilaterally. 8 of the 14 with hearing loss also had associated features (e.g., perinatal encephalopathy). The I-III andI-Vinterwave latencies were significantly longer in the autistic children compared to normal control children; the increased conduction times were found mainly in the early portion of the auditory brainstem pathway. These data confirm some earlier reports of ABR abnormalities in autistic children and are concordant with some theories of the etiological basis of autism. The high incidence of hearing loss in these children is significant and routine ABR testing is recommended.

Although several cases of acute hepatic failure associated with the administration of valproic acid (VPA) have been reported, the pathogenesis of this problem remains unclear. We report the case of a 40 month old male with a chronic seizure disorder treated with VPA and phenytoin for two years, who developed sudden progressive neurological deterioration with evidence of increased intracranial pressure and hepatic failure. The clinical features closely resembled those of Reye’s syndrome suggesting the possibility of a common pathogenesis.

The preliminary results based on a three year retrospective study in cavus foot deformity of forty-four Friedreich ataxia patients regularly seen at the Neuromuscular Disease Clinic of Sainte-Justine Hospital have been presented. An accurate “weight-bearing” foot stereoradiographic technique has been recently developed by our group. Since the follow-up period with this device is not sufficient to provide statistical information, the conventional non-weight bearing technique has been utilized in this study to enable a possible comparison between the radiographs of ambulant and non-ambulant patients. Due to the present technique, the results of this study must be interpreted with caution.

For 132 pairs of radiographs, 28 parameters have been analyzed. Four of these, namely the calcaneal inclination angle, the first metatarsal inclination angle, the inferior cortex of calcaneus-first metatarsal angle and the first-fifth metatarsals angle, were of particular interest. From these parameters, a preliminary quantitative description of cavus foot deformity in Friedreich’s ataxia has been attempted. Three stages of evolution have been tentatively identified for this type of neurological disorder.

Two sisters developed benign intracranial hypertension (BIH) two weeks following the resolution of a major depressive episode. The association of BIH and a major affective disorder in genetically related individuals has not been previously reported to our knowledge. Both conditions are associated with disturbances in the hypothalamic-pituitary-adrenal axis. Falling corticosteroid levels in a resolving depression may result in impaired cerebrospinal fluid absorption and subsequent BIH.

Orthogonal stereoradiographs are frequently utilized in determining three-dimensional geometrical parameters of human body segments. They have been applied here in the estimation of the length and elongation of the ligaments of the normal foot. Three small spherical metallic markers were respectively encrusted into the tibia and fibula, the seven bones of the tarsus and into the five metatarsals of an amputed lower limb to identify uniquely their spatial location. The foot was then positioned on a rotating platform. Standardized antero-posterior and lateral radiographs were taken. Afterwards the foot was dissected and the proximal and distal insertions of most of its ligaments were located by means of spherical markers. A second series of orthogonal radiographs were taken of each of the fourteen bones. The radiographs were digitized. The length of each ligament and elongation for a simple and complex movements were calculated by means of a computer program. The results of a simple movement of rotation representing a normal 20° dorsiflexion at the talocrural joint and of complex movements of rotation simulating an abnormal high arch such as encountered in Friedreich’s ataxia are presented and discussed.

We report the case of a man who died at age 40 after a 9 year illness resembling a hereditary spinocerebellar degeneration, but accompanied also by brain stem signs and dementia. Autopsy disclosed lesions of combined spinocerebellar and ponto-cerebellar degeneration, but also damage to many brain stem nuclei. Prominent amyloid plaques disseminated through the brain indicated a relationship to the Kuru-Creutzfeldt-Jakob group of diseases. Transmission experiments are underway at the National Institutes of Health.

We report a patient with polycythemia vera and myeloid metaplasia of nine years duration who developed raised intracranial pressure related to a mass obliterating the sagittal fissure. Although clinically and radiologically simulating a meningioma, biopsy revealed extramedullary hematopoiesis involving the falx cerebri. Although uncommon, this case illustrates that myeloproliferative disease can present with symptomatology and radiologic features similar to primary intracranial tumours.