[Psychopathology in epilepsy and pseudoepilepsy: preliminary results in our experience]. / Psicopatologia nell'epilessia e nella pseudoepilessia: risultati preliminari nella nostra esperienza.

PURPOSE: Pseudoseizures or nonepileptic seizures (NES) are termed "nonepileptic psychogenic seizures" and account for approximately 20% of all intractable seizure disorders. These seizures are often misdiagnosed as true epilepsy, resulting in inappropriate, ineffective and costly treatment of many patients. Nowadays video-EEG monitoring have greatly improved the ability of specialists to correctly distinguish NES from epilepsy. Nevertheless, patients with NES do not always demonstrate obvious psychopathology. The aim of this study is to examine the complexity and severity of psychopathological features of patients with NES, in order to optimize strategies of intervention and appropriate long-term psychological and psychopharmacological treatment for these patients. MATERIALS AND METHODS: We evaluated three samples: patients with NES, patients with epilepsy and a control sample. Subjects with pseudoseizures and epileptic seizures have been randomly recruited from the Epilepsy Centre at the Neurology Institute of Catholic University of Sacred Heart of Rome. Seizures have been documented by the recording of spontaneous events with video-EEG, EEG, clinical observation and ictal examination. Each sample of patients has been tested using the Hamilton Rating Scale for Depression (HDRS), Dissociative Experience Scale (DES), Minnesota Multiphasic Personality Inventory-2 (MMPI-2) and Short Form Health Survey 36 (SF-36). RESULTS: 17 (4 M; 13 F) patients with NES, 13 (3 M; 10 F) patients with epilepsy and 16 (4 M; 12 F) control subjects were recruited. Our preliminary results confirm previous researches showing that NES typically manifest between 20 and 30 years of age and that approximately a three-quarters of all patients are women. Besides, they confirm that psychosocial, environmental and intrapsychic mechanisms interact in the aetiology of NES: in particular, our preliminary results are consistent with the hypothesis that traumatic experiences are important precursors to the development and expression of NES. CONCLUSIONS: This study has yielded promising results and confirm the necessity to improve our knowledge about psychopathology of patients with NES. Psychiatrists and neurologists should work in equipe to guarantee an adequate treatment for a pathology too long set aside and almost ignored from clinical research.

Tonic-clonic seizures in a patient with primary hypoparathyroidism: a case report.

Hypoparathyroidism, a life threatening disorder, occurs when insufficient parathyroid hormone is produced to maintain extracellular calcium levels within the normal range. The acute clinical signs and symptoms of hypoparathyroidism are the same as those of hypocalcemia, ranging from tingling to intractable generalized tonic-clonic seizures; therefore, it can be mistaken for epilepsy. We report the case of a 36-year-old man who presented two tonic-clonic seizures, characterized by sudden loss of consciousness with a fall and diffuse tonic contractions and clonic jerks. At first diagnosis of epilepsy was established and therapy with valproate was commenced. In the following days, the patient presented typical signs of hypocalcemia and the diagnosis of hypoparathyroidism was made. In the 4 months follow up, antiepileptic drug therapy was reduced until suspension and calcium supplementation was initiated. We briefly review the most recent reports in the literature.

Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus.

In 1995 Laing et al. (Am J Hum Genet 56(1995)422) described a single family with nine members affected by an autosomal dominant infantile onset distal myopathy. This family generated a LOD score of 2.6 for a locus on chromosome 14. We describe two families with an infantile onset distal myopathy: a new family with four affected members and the family previously described by Scoppetta et al. (Acta Neurol Scand 92(1955)122) in both of which haplotype segregation was compatible with linkage to the same chromosome 14 locus, generating LOD scores of 0.9 at a penetrance of 100% for the markers D14S283 and D14S64 (theta=0) in both families. The loci for autosomal recessive hereditary inclusion body myopathy and Nonaka myopathy on chromosome 9 and for autosomal dominant distal myopathy of Markesberry-Griggs and Udd on chromosome 2q31-33 were excluded by linkage analysis. The disease followed a uniform course with selective wasting of the anterior tibial muscles, starting in infancy and recognizable by a characteristic clinical sign of the 'hanging big toe'. This was followed by slow progression, with involvement of the finger and wrist extensor muscles in the third decade and proximal limb muscles in the fourth decade. Interestingly, we also found evidence of an accompanying mild peripheral neuropathy in the oldest individual with hypomyelination of numerous large myelinated fibres. In addition, this patient's muscle biopsy also showed autophagic vacuoles and numerous intranuclear tubulo-filamentous inclusions of 15-20 nm diameter. Given that all three families with infantile onset distal myopathy are compatible with linkage to the same locus on chromosome 14, this study supports evidence for, and enlarges the clinical and neuropathological spectrum of the distal myopathy on chromosome 14.

Acute hemorrhagic leukoencephalitis in patients with acute myeloid leukemia in hematologic complete remission.

The authors describe the cases of three patients affected by acute myeloid leukemia, in complete remission, who rapidly developed neurologic symptoms leading to death. Neither clinical characteristics, nor radiological or microbiological procedures, allowed an etiological diagnosis of the neurologic syndrome. Post-mortem examination of the brain showed both macroscopic and microscopic findings compatible with acute hemorrhagic leukoencephalitis. The difficulty in distinguishing this entity from other CNS disease-related complications (e.g. leukemia infiltration, drug toxicity, hemorrhages) should not lead to an underestimation of the true incidence of this complication. We believe that with more attention to the possibility of this complication there would probably be both a greater possibility of collecting clinical informations about the real impact of this dramatic disease and a stronger hope of finding the right treatment for it.

Autosomal recessive distal muscular dystrophy.

The "distal myopathies" include autosomal dominant, autosomal recessive, and sporadic disorders. Two of the recessive disorders are considered to be definitive entities: Miyoshi's myopathy, which has an early adult onset and first involves the calf muscles, and distal myopathy with rimmed vacuoles. We here describe the cases of two sisters and compare them with previously reported cases. The disorder in our patients is characterised by: a) autosomal recessive inheritance; b) onset in early adult life; c) initial involvement of the tibialis anterior and peroneal muscles; d) subsequent involvement of the calf muscles spreading to the proximal muscles of the legs and, later, the arms; e) a moderately disabling evolution over a period of 10-12 years; f) marked and stably high serum levels of CK and other enzymes; g) EMG evidence of myopathic damage, with fibrillation at rest; and h) a histological picture of dystrophic myopathy, with atrophy of mainly type 2 fibres. We think that this syndrome is different from the two forms of autosomal recessive distal myopathy mentioned above.

Post-traumatic malignant glioma. Report of a case.

Only a few cases reported in the literature fulfil the currently established criteria for accepting the traumatic origin of some intracranial tumors. A case of post-traumatic glioma is presented. Several years after sustaining a commotive left parietal trauma, our patient developed symptoms of intracranial tumor. Neuroimaging (CT and MRI) showed a large neoplasia in the left temporo-parietal-occipital region, and stereotactic biopsy revealed a mixed glioma in continuity with the scar resulting from the trauma.

Infantile autosomal dominant distal myopathy.

INTRODUCTION: Distal myopathies are currently regarded as a non-homogeneous group of disorders including different autosomal dominant, recessive and sporadic forms. MATERIAL AND METHODS: The cases of a mother and her son and daughter are described and compared to previously reported cases from 4 families. Despite minor differences, the clinical picture is remarkably homogeneous, both within the same family and among different families. CONCLUSION: A distinct clinical form can be identified including: a) autosomal dominant inheritance; b) onset in infancy or childhood with peroneal muscles weakness; c) not disabling evolution in spite of possible late involvement of muscles others than tibio-peroneal; d) usually normal serum CK and other muscle enzymes; e) EMG evidence of primary myogenic damage; f) morphological findings of non-specific myopathy. Because of the benign evolution and the absence of true dystrophic changes in most biopsies we suggest the term infantile autosomal dominant distal myopathy should be preferred to infantile autosomal dominant distal muscular dystrophy.

Treatment of progressive supranuclear palsy with methysergide. A clinical study.

We present a clinical study of a patient aged 69 years with a clinical history of severe difficulty in walking and voluntary conjugate eye movement reduction in sideways glance and absence in vertical gaze. These symptoms led to diagnosis of Parkinson disease and treatment with L-Dopa + anticholinergics drugs. The treatment with antiparkinsonian drugs was suspended and no change in his clinical condition resulted. Methysergide therapy was initiated and the patient's response was monitored by video recording. On the basis of our experience and the data reported in the literature we believe that methysergide therapy affords some relief of symptoms in patients suffering from PSP.

[Changes in sleep organization in two patients with progressive supranuclear palsy]. / Modificazioni dell'organizzazione ipnica in due pazienti con paralisi sopranucleare progressiva.

Sleep-EEG of two subjects affected by Progressive Supranuclear Palsy was studied. Morphological, reduced and poorly organized sleep transients (spindles) in stage 2 and decreased REMs during desynchronized sleep were observed. The quantitative sleep analysis showed a poor and fragmented sleep with an increase of stage 1 and stage 3 and a decrease of stage 2 and REM sleep.

The spectrum of the so-called rigid spine syndrome: nosological considerations and report of three female cases.

Three female cases of the "rigid spine" syndrome are reported and associated with different nosological entities. One patient was affected by congenital muscular dystrophy and one by a morphological pattern of fibre type disproportion with type I atrophy. The third patient showed very peculiar morphological changes on a muscle biopsy specimen resembling a vacuolar myopathy, which is rarely described in association with the rigid spine syndrome. The importance of an adequate investigation of the rigid spine syndrome and the recognition of the presence or absence of cardiomyopathy, if there is to be correct genetic counselling, is discussed.

Distal muscular dystrophy with autosomal recessive inheritance.

Two sisters presented with distal weakness and their muscle biopsy was dystrophic. This distal muscular dystrophy has an autosomal recessive inheritance and its features are somewhat different from the more common autosomal dominant distal muscular dystrophy and include: a) onset in early adult life; b) involvement of distal leg muscles and especially peroneal muscles; c) marked early elevation of serum creatine kinase (CK); d) brief duration, small amplitude motor units and fibrillation on electromyography; and e) histologic features of a dystrophic myopathy.

Clinical features of amyotrophic amyotrophic lateral sclerosis.

The clinical features and course of amyotrophic lateral sclerosis are discussed. The data on a series of 116 patients are compared with those of the literature. The following points emerge: 1) when the disease starts before the age of 50, the prognosis is often less poor than usual; 2) the forms with spinal, and especially cervical, onset appear to be less rapid than bulbar forms; 3) in 20% of the patients survival is over 5 years. There may be some unknown factor that increases the resistance of some subject to the disease.

Sporadic distal myopathy.

The sporadic distal myopathies are uncommon primary muscle diseases, the pathogenesis of which is still unclear. The inclusion body myositides are inflammatory myopathies, the distal form of which presents some features resembling those of sporadic distal myopathy. A case is reported of a patient showing features of both the first and the second forms.

Treatment of myasthenia gravis. Report on 139 patients.

In the treatment of myasthenia gravis (MG) considerable progress has recently been achieved. Our experience is based on the observation of 139 patients with an average follow-up of 3 years and 4 months. A treatment plan and results are presented. Indications for thymectomy: all cases of MG in adult life, apart from ocular myasthenia without radiological thymoma and without electrophysiological and pharmacological signs of generalization; before puberty only cases with radiological thymoma and severely incapacitating or life-threatening signs. Median sternotomy is preferable for thymoma, the transcervical approach with a sternal split for non-neoplastic thymus. Mediastinal radiotherapy is indicated after removal of an invasive or adhesive thymoma. Indications for corticosteroids: 1) before thymectomy: respiratory weakness; 2) soon after thymectomy: life-threatening signs; 3) later after thymectomy: incapacitating or life-threatening signs; 4) as an alternative to thymectomy: when surgery cannot be performed or it is not indicated. Oral Prednisone was nearly always preferred: alternate-day high single dose (75 to 115 mg) has given good results in most cases even if in some cases a small dose was required in the "off day"; inversely a lower alternate-day or daily dose was often sufficient. Long-term results: following this schedule for adult patients good results were scored in 67% of thymomas, in 94% of hyperplasias, and in 62% of unthymectomized patients: in prepuberal life the few cases of severe MG have all shown a favorable evolution.