Acquired hemidystonia in childhood: a clinical and neuroradiological study of thirteen patients.

A retrospective study of 13 patients (4 males/9 females) with acquired hemidystonia in childhood is reported. The mean age of onset of hemidystonia was 6.4 years (range 1-13.4 years); the mean duration of dystonia at the time of last follow-up was 11.4 years (range 3.6-23 years). Hemidystonia was caused by ischemic infarction in 9 patients and was attributed to perinatal trauma in 1; in 4 of the 9 patients with stroke and in the remaining 3 patients laboratory investigations were suggestive of primary antiphospholipid syndrome. Eleven of the 13 patients had delayed onset of dystonia: between 1 month and 8.9 years (mean 3.4 years). Ten patients had neuroradiological evidence of contralateral basal ganglia damage. A history of hemiparesis and evidence of striatal damage on CT or MRI were important risk factors for the development of dystonia. Response to medical treatment (trihexyphenidyl dose as high as 40 mg daily) in 5 patients was disappointing; 4 of the 5 patients who underwent functional stereotaxic operations were improved, but dystonia was still present at the end of the follow-up. Our study provides additional evidence that lesions of the striatum may induce dystonia, supporting the theory of striatopallido-thalamic disconnection. Furthermore, our results indicate that the occurrence of delayed dystonia must be considered in the diagnostic approach to childhood-onset dystonia.

Transient paroxysmal dystonia in an infant possibly induced by cisapride.

The case is reported of an infant presenting paroxysmal dystonia during cisapride theraphy. We suggest that this drug, a substituted benzamide, probably interfered with the age-related modification of striatal neurotransmitters, provoking extrapyramidal symptoms. Considering the widespread use of cisapride in early infancy for the treatment of gastrointestinal disorders, attention must be drawn to this possible side effect.

Paroxysmal dystonia and paroxysmal tremor in a young patient with multiple sclerosis.

A 16-year-old patient with multiple sclerosis (MS) showed paroxysmal movement disorders during a recurrence of the disease. The paroxysms took the form ot brief unilateral dystonic posturings of the right body suggestive of paroxysmal dystonia (PD); they completely receded with acetazolamide. A single episode of a high amplitude, rythmic slow and coarse generalized tremor, present at rest and increasing with movement, particularly involving the head in a no-no movement, occurred soon after recovery from PD and lasted three hours. The present report provides evidence that MS has to be considered in the diagnostic approach to symptomatic childhood PD and underlines the efficacy of acetazolamide in the treatment of PD attacks. It also describes a rare paroxysmal movement disorder, defined as paroxysmal dystonic tremor, that can be considered as falling within the spectrum of PD.

High prevalence of antiphospholipid antibodies in children with idiopathic cerebral ischemia.

BACKGROUND: The presence of circulating antiphospholipid antibodies (aPLs) is frequently associated with thromboembolic phenomena. OBJECTIVE: To investigate the prevalence of aPLs, detected as lupus anticoagulant (LA) or anticardiolipin antibody (aCL), in a group of unselected children with idiopathic cerebral ischemia. DESIGN: Prospective, case series. SETTING: A pediatric neurology department. PATIENTS: Thirteen children with cerebral ischemia (eight with stroke, three with transient ischemic attacks, and two with ocular ischemia). Age-matched apparently healthy children served as controls. MEASUREMENTS: LA and aCL determination was performed within 3 days after the occurrence of the ischemic event and was repeated after 3 to 6 months. To be defined as aPL-positive, patients had to have either a positive LA test or positive IgG and/or IgM aCL at moderate/high level in both determinations. MAIN RESULTS: Ten (76%) of the 13 patients were positive for either LA or aCL. No differences were found between aPL-positive and aPL-negative patients with respect to clinical manifestations or radiological features. Six (46%) of the 13 patients had a history of multiple ischemic events. CONCLUSIONS: Our results show a very high prevalence of aPLs in children with idiopathic cerebral ischemia. Because the presence of these antibodies has relevant therapeutic implications, their determination in children with cerebral ischemia is recommended.

Primary antiphospholipid syndrome (PAPS) and isolated partial seizures in adolescence. A case report.

The case of a young male patient presenting isolated clustered partial seizures is reported. Despite the normality of the neurological features, as well as of ictal and interictal EEG, the MRI (performed three days after the symptoms) disclosed bilateral signal alterations in the parietal cortical region. These abnormalities disappeared at the MRI control examination performed one month later. The finding of positive anticardiolipine antibodies made possible the diagnosis of partial epileptic seizures symptomatic of a vascular disorder ascribed to a Primary antiphospholipid Syndrome (PAPS).

Primary antiphospholipid syndrome and neurologic events.

The occurrence of lupus anticoagulant and anticardiolipin antibodies was demonstrated in a girl affected by recurrent episodes of visual disturbances, with ophthalmologic evidence of visual impairment and sometimes accompanied by migraine. Systemic lupus erythematosus was excluded on the basis of both clinical and serologic criteria and the diagnosis of primary antiphospholipid syndrome was made. Vascular pathogenesis was suggested by the characteristic symptoms. The serologic demonstration of antiphospholipid antibodies made it possible to relate the illness to an immune-mediated thrombotic tendency. This patient demonstrated that the diagnosis of primary antiphospholipid syndrome must always be considered in focal cerebral or retinal ischemia in childhood.

Burst suppression and impairment of neocortical ontogenesis: electroclinical and neuropathologic findings in two infants with early myoclonic encephalopathy.

We report the electroclinical and neuropathologic correlations in 2 children aged 2.5 months affected by early myoclonic encephalopathy characterized by epileptic seizures, erratic myoclonus, and an EEG pattern of burst suppression. Despite different etiologies, the neuropathologic findings showed similar abnormalities in both cases, with no substantial impairment of the myelination processes. Islands of matrix tissue scattered in the periventricular region and neurons aligned marginally in the bulbar olives were detected. The presence of numerous large spiny neurons dispersed in the white matter along the axons of the cortical gyri was the most striking finding. The neurons have been interpreted as abnormally persisting interstitial cells in 2.5-month-old children. These early generated neurons, normally present during neocortical histogenesis, are programmed to die near the end of gestation or soon after birth. The interstitial cells are regarded as a waiting compartment of afferent fibers during cortical development. Their persistence in our patients represents an anatomic condition for cortical disconnection providing a pathophysiologic basis to burst-suppression phenomena.

Hemidystonia symptomatic of primary antiphospholipid syndrome in childhood.

We report three children with hemidystonia in whom anti-cardiolipin (aCL) antibodies were demonstrated. Systemic lupus erythematosus was excluded on the basis of both clinical and serological criteria, and the diagnosis of primary antiphospholipid syndrome (PAPS) was made. In two cases, aCL antibodies could be causally related to a presumed immune-mediated thrombotic event involving the basal ganglia as shown by magnetic resonance imaging (MRI). In the remaining patient the finding of white matter alteration on NMR might be due to cross-reactivity of anti-phospholipid (aPL) antibodies with cerebral phospholipids, resulting in demyelination. We suggest that PAPS must always be considered when isolated or recurrent focal cerebral ischaemia, and particularly hemidystonia, occur in childhood.

Chronic GM1 gangliosidosis presenting as dystonia: clinical and biochemical studies in a new case.

Clinical and biochemical findings in a patient affected by chronic GM1 gangliosidosis, presenting as progressive dystonia and mental deterioration, are reported. The patient, a 13-year-old male, showed, at the age of 3 years, an impairment of gait with frequent falls, dysarthria and stuttering. At the age of 6, writing dystonia appeared and subsequently mental deterioration and dystonic postures of arms and legs became evident. The clinical features presented by this patient are similar to those shown by the cases of adult/chronic GM1 gangliosidosis previously reported, except for the early onset. This observation emphasizes the occurrence of dystonia as prominent symptom in chronic GM1 gangliosidosis, underlining that this disease must be considered in the diagnostic approach to the progressive dystonias of the early infancy.

Hallervorden-Spatz disease: MR and pathologic findings.

PURPOSE: To compare the MR findings of eight cases with clinical diagnosis of Hallervorden-Spatz disease (HSD) with the pathologic findings of two other cases of HSD. MATERIALS AND METHODS: The eight imaged cases were studied with 0.5-T (seven cases) and/or 1.5-T (five cases) units. Six patients also had CT scans. The two other cases with proven HSD had detailed histologic evaluation. RESULTS: The 1.5-T findings showed abnormalities confined to the pallidum, which presented a diffuse low signal intensity in T2-weighted images, and an anteromedial area of high signal intensity (eye-of-the-tiger sign). In 0.5-T studies, low signal intensity was less evident and poorly detectable in spin echo, but gradient-echo images could enhance its demonstration; the area of high signal intensity was always well demonstrated. In three cases (three with 1.5 T, one with 0.5 T) a central spot of low signal intensity was seen in this area. The pathologic cases, in addition to neuroaxonal swellings and iron deposits, exhibited areas of "loose" tissue with vacuolization and lesser amounts of iron in the anteromedial part of the pallidum, in a location corresponding to the area of high signal intensity of the imaged cases. CONCLUSION: Comparison of MR findings with the pathologic studies demonstrates that the low signal intensity in T2-weighted images at 1.5 T corresponds to iron deposits in a dense tissue, and that the high signal intensity of the eye-of-the-tiger sign corresponds to an area of loose tissue with vacuolization. No correlation was found in the two pathologic cases for the central spot of low signal intensity.

Hallervorden-Spatz disease: clinical and MRI study of 11 cases diagnosed in life.

The diagnosis of Hallervorden-Spatz disease (HSD) has usually been made post mortem, although the recent description of characteristic abnormalities in the globus pallidus has suggested the possibility of an in vivo diagnosis. We present the clinical histories, neurological features and MRI findings of 11 patients, diagnosed as having HSD. Generalized dystonia with predominance of oromandibular involvement, behavioural changes followed by dementia and retinal degeneration were present in all the patients. MRI pallidal abnormalities consisted of decreased signal intensity in T2-weighted images, compatible with iron deposits, and of a small area of hyperintensity in its internal segment ("eye of the tiger" sign). We propose that the combination of these neurological signs with these MRI findings could be considered as highly suggestive of a diagnosis of HSD in living patients.

Progressive dystonia symptomatic of juvenile GM2 gangliosidosis.

A 9-year-old boy showed a progressive generalized dystonia, with onset at the age of 4 years, combined with mental deterioration and behavioral disturbances. The values of beta-hexosaminidase activities studied in plasma, leukocytes, and fibroblasts obtained using two different substrates (MUG-NAc and MUG-NAc-6-S) were significantly reduced but higher than in Tay-Sachs disease and similar to those found in the juvenile chronic form of GM2 gangliosidosis. With anticholinergic therapy, for 1.5 years, the dystonic symptoms did not progress and the boy can still care for himself and attend school. The description of another case of the disease, clinically expressed as dystonia, corroborates the existence of a dystonic phenotype of GM2 gangliosidosis.

Childhood multiple sclerosis (MS): multimodal evoked potentials (EP) and magnetic resonance imaging (MRI) comparative study.

We compared the diagnostic sensitivity of magnetic resonance imaging (MRI) and evoked potential (EP) studies in a series of 19 children affected by clinically definite (16 cases) and laboratory supported (3 cases) multiple sclerosis (MS). MRI revealed abnormal areas consistent with demyelinating plaques in 18 out of 19 cases: multiple lesions in 16 and an isolated lesion in 2 cases. Abnormal areas were more frequently found in supratentorial regions than in other areas of the central nervous system. In all patients, the distribution, form and topography of the lesions were typical of MS and similar to those found in the adult form of the disease. Multimodal EP were abnormal in 16 out of 19 cases. Visual (VEP) and somatosensory evoked potentials (SEP) abnormalities were frequently asymptomatic and VEPs were particularly sensitive in ascertaining childhood MS. MRI was slightly more sensitive than multimodal EP in confirming the clinical diagnosis of childhood MS. However, in suspected or probable MS with normal MRI, VEPs and SEPs may contribute to the definition of clinical diagnosis because of their capacity to demonstrate asymptomatic involvement in central nervous system (CNS) the optic nerve and central somatosensory pathways).

Typical and atypical forms of paroxysmal choreoathetosis.

Two children with clinical pictures of paroxysmal kinesinogenic choreoathetosis and paroxysmal dystonic choreoathetosis are described and compared with previous reports with regard to diagnostic procedures, therapeutic approach and prognosis. A third case, characterized by paroxysmal dyskinesia induced by exercise and associated with choreiform nonprogressive signs, is also described. Such an association has not been reported previously. This unusual clinical picture indicates the possibility of intermediate forms in the paroxysmal choreoathetosis group and suggests a relationship between paroxysmal motor disorders and benign familial chorea with early onset.

Idiopathic dystonia with onset in childhood.

The natural history of early-onset idiopathic dystonia was studied in 30 patients. Worsening of motor symptoms was observed in the early stages, followed by spontaneous stabilization. Most of the patients retained functional independence. None showed mental deterioration, mood alteration or personality disturbance.

Transient paroxysmal dystonia in infancy.

A group of nine patients with paroxysmal non epileptic motor disorders, with onset in the first year of life, is presented. The characteristics of the attacks define them as paroxysmal dystonia. The progression of the symptoms showed a spontaneous remission in a short length of time (6-22 months) in most infants. In two of them the symptoms persist, showing, however, a progressive decrease. All the laboratory tests were normal. None of the subjects revealed neurological signs and psychomotor development was normal. A likely correlation between transient early-childhood paroxysmal dystonia and developmental processes is discussed.

[The sleep-wake rhythm of the fetus]. / Le rythme sommeil-veille du foetus.

Our work refers to a body of studies carried out by Sonargram observation, which allowed us to study fetal movements in real time. These fetuses were studied not only as parameters of correct neurobiological maturity but also from the psychological interest which looks for the beginning of thinking based on the question: When and how does the thought process begin in biological matter? The study comparing the movement of fetuses and new-born babies to psychoanalytical research (which have been described in other works) led us to formulate the following hypothesis: motor and sense experiences can only become "mental" after separation from the mother; it can only come about by birth which effectively forces a confrontation on biological grounds: it prepares the thinking process without yet having it. There is a debate between these positions and psychoanalytical schools of thought in which thinking could precede the birth of the human fetus; there might be a stage of sleep (REM) that corresponds to adult dreaming.