[Neuropsychological and magnetic resonance imaging findings in five patients after carbon monoxide poisoning]. / Troubles cognitifs dus à l'intoxication oxycarbonée: étude neuropsychologique et IRM de 5 cas.

INTRODUCTION: Carbon monoxide (CO) poisoning has been shown to result in cognitive impairments. These disorders have rarely been reported. The present study aimed to evaluate these disturbances in five patients with a neuroanatomical study. METHODS: There were two men and three women with an average of 25 years old. Patients were explored several months after acute CO poisoning. Neuropsychological testing was administered to assess memory, intellectual, executive, visual-spatial and constructional functions, language, praxis and gnosis. Cerebral magnetic resonance imaging (MRI) was performed in all patients using axial, sagittal and coronal slides with T1 and T2 weighted and flair images. None of the subjects had hyperbaric oxygen. They received 7, 5 mg bromocriptine per day. RESULTS: All patients presented cognitive disorders including marked impairment in long term memory with a severe defect in recall performance in comparison to recognition memory. Visual memory was more affected than the verbal one. There were also moderate disturbances in intellectual, executive, visual-spatial and constructional functions. One patient presented alexia agraphia, severe visual disturbances, constructional and dressing apraxia. Four patients had depression and one psychic akinesia. Cerebral MRI studies revealed that all patients had bilateral pallidal necrosis, bilateral hippocampal and moderate cortical atrophy. Fornix atrophy was found in 2 patients and corpus mammillary atrophy in 3 patients. Others lesions were also found: bilateral cerebellar in two cases and cortical in three cases. Treatment with bromocriptine was effective in three cases. There was no improvement in the patients treated 14 months and 5 years following CO poisoning. CONCLUSION: Neuropsychological impairments in CO poisoned subjects include memory, intellectual, executive, and visuospatial defects. In addition to pallidal necrosis, which is a typical feature of CO poisoning, hippocampal and cortical atrophy are often present. Bromocriptine can improve the cognitive disorders.

Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia.

BACKGROUND: Mutilating sensory neuropathy with spastic paraplegia is a very rare disease with both autosomal dominant and recessive modes of inheritance. We previously mapped the locus of the autosomal recessive form to a 25 cM interval between markers D5S2048 and D5S648 on chromosome 5p. In this candidate interval, the Cct5 gene encoding the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (CCT) was the most obvious candidate gene since mutation in the Cct4 gene encoding the CCT delta subunit has been reported to be associated with autosomal recessive mutilating sensory neuropathy in mutilated foot (mf) rat mutant. METHODS: A consanguineous Moroccan family with four patients displaying mutilating sensory neuropathy associated with spastic paraplegia was investigated. To identify the disease causing gene, the 11 coding exons of the Cct5 gene were screened for mutations by direct sequencing in all family members including the four patients, parents, and six at risk relatives. RESULTS: Sequence analysis of the Cct5 gene revealed a missense A492G mutation in exon 4 that results in the substitution of a highly conserved histidine for arginine amino acid 147. Interestingly, R147 was absent in 384 control matched chromosomes tested. CONCLUSION: This is the first disease causing mutation that has been identified in the human CCT subunit genes; the mf rat mutant could serve as an animal model for studying these chaperonopathies.

[Epidemiological and clinical aspects of neurosyphilis in Morocco]. / Aspects épidémiologiques et cliniques de la neurosyphilis au Maroc.

Neurosyphilis accounts for 56%-70% of all visceral syphilis and is a complication in 5%-10% of cases of untreated syphilis. The aim of this study was to evaluate the epidemiological aspects and clinical presentations of neurosyphilis in Morocco through a series of 201 patients attending the Centre for Neurological Services at the university hospital in Rabat between 1986 and 1997. The mean age of the patients was 41.26 (SD 9.23) years (range: 17-70 years); the majority (91%) were male. The incidence of neurosyphilis in Morocco is high. From 31 cases per year in 1985, it has fallen since 1990 to reach 10 cases in 1997. Among the different clinical presentations recorded, chronic meningoencepahalitis was the commonest, followed by meningovasculitis, tabes dorsalis and optic atrophy.

[Epidemiological and clinical aspects of neurosyphilis in Morocco]

Neurosyphilis accounts for 56%-70% of all visceral syphilis and is a complication in 5%-10% of cases of untreated syphilis. The aim of this study was to evaluate the epidemiological aspects and clinical presentations of neurosyphilis in Morocco through a series of 201 patients attending the Centre for Neurological Services at the university hospital in Rabat between 1986 and 1997. The mean age of the patients was 41.26 [SD 9.23] years [range: 17-70 years]; the majority [91%] were male. The incidence of neurosyphilis in Morocco is high. From 31 cases per year in 1985, it has fallen since 1990 to reach 10 cases in 1997. Among the different clinical presentations recorded, chronic meningoencepahalitis was the commonest, followed by meningovasculitis, tabes dorsalis and optic atrophy

[Clinical and therapeutic aspects of benign intracranial hypertension]. / Hypertension intracrânienne bénigne. Aspects cliniques et thérapeutiques.

INTRODUCTION: Benign intracranial hypertension (BIH) or pseudotumor cerebri is diagnosed on the basis of Dandy's criteria. BIH creates an emergency situation because of the risk of lost vision. In this work, we studied retrospectively a series of 10 cases of BIH all meeting Dandy's criteria. Our objective was to assess the benefit of the corticosteroid-acetazolamide combination on clinical course, especially on papiledema. METHODS: Eighty-four patients were hospitalized at the neurology department (Hopital des Specialites, Rabat) over a period of 14 years (1988-2001). They were divided into three groups: forty cases of cerebral thromophlebitis, 10 cases of BIH. In the remaining 34 cases, the investigations were insufficient, so that Dandy's criteria could not be verified. We studied only the 10 cases presenting with a diagnosis of BIH diagnosis complying with Dandy's criteria. The patients underwent a physical examination, cerebral magnetic resonance imaging (MRI) if possible or CT scan with conventional angiography, and CSF examination with pressure measurement. We analyzed age, sex-ratio, clinical aspects and the outcome after treatment. The major criterion of outcome was the regression of papilledema. RESULTS: There were 9 women and 1 man. The mean age was 24.6 8.4 years. Behcet's disease was noted in 3/10 patients. The clinical features were those described in the literature. Patients were treated by corticosteroids combined with acetazolamide and CSF depletion in all cases. CSF derivation was performed in only 1 patient. Definitive blindness was noted in 2 patients at admission. A favorable course was noted in 8/10 cases, with regression of papilledema within approximately 1 month. DISCUSSION: We suggest that the corticosteroid-acetazolamide combination can have a beneficial effect on papilledema in BIH. However, these results should be confirmed by a prospective, randomized, double blind controlled study.

Behçet's disease in Moroccan children: a report of 12 cases.

We report 12 cases of Behçet's disease (BD) in children. The mean age of symptom onset was 12.4 years. Four patients (33.3%) had a past familial history of BD. Clinical manifestations were: oral aphtosis (n = 12), genital aphtosis (n = 9), ocular involvement (n = 9), neuro-Behçet (n = 6), venous thrombosis (n = 4), articular involvement (n = 3), and entero-Behçet (n = 1). All patients but one were initially treated with steroids; three cases with ocular involvement were treated with chlorambucil; and three other cases of neuro-Behçet were treated with cyclophosphamide. After a mean follow-up of 4 years, four patients with neurological involvement developed steroid-dependence with recurrence of symptoms. Four patients had optic atrophy with blindness.

High incidence of SMN1 gene deletion in Moroccan adult-onset spinal muscular atrophy patients.

Spinal muscular atrophy (SMA) is an autosomal recessive motor neuropathy characterized by selective degeneration of anterior horn cells of the spinal cord. Childhood SMA is divided into three types (I-III) on the basis of age of onset and severity. These disorders have been linked to the 5q13 region, where mutations in the Survival Motor Neuron 1 (SMN1) gene have been found in affected individuals. In the case of adult-onset SMA (type IV), on the other hand, reports of homozygous absence of SMN1 gene have been rare. We conducted deletion analysis of SMN and a neighboring gene, NAIP (neuronal apoptosis inhibiting protein). Among 54SMA patients (types I-IV), all of Moroccan origin, Exon 7 of the SMN1 gene was homozygously absent in 100% of type I, 90% of type II, 74% of type III and 80% of type IV SMA patients. Deletion of SMN1 exon 8 was detected in 100% of type I, 53% of type II, 53% of type III and 80% of type IV patients. NAIP exon 5 was homozygously deleted in 67% of type I, 32% of type II, 5% of type III and 20% of type IV SMA patients. Thirty control individuals who were studied had normal SMN1 and NAIP genes. Our results show a high incidence of SMN1 gene deletion in adult-onset SMA patients indicating that SMN1 is the autosomal recessive adult SMA-causing gene. While NAIP is commonly deleted in SMA, this is unlikely to affect disease severity; it was deleted in two adult SMA patients with mild phenotypes.

Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.

Charcot-Marie-Tooth disease (CMT) with autosomal recessive (AR) inheritance is a heterogeneous group of inherited motor and sensory neuropathies. In some families from Japan and Brazil, a demyelinating CMT, mainly characterized by the presence of myelin outfoldings on nerve biopsies, cosegregated as an autosomal recessive trait with early-onset glaucoma. We identified two such large consanguineous families from Tunisia and Morocco with ages at onset ranging from 2 to 15 years. We mapped this syndrome to chromosome 11p15, in a 4.6-cM region overlapping the locus for an isolated demyelinating ARCMT (CMT4B2). In these two families, we identified two different nonsense mutations in the myotubularin-related 13 gene, MTMR13. The MTMR protein family includes proteins with a phosphoinositide phosphatase activity, as well as proteins in which key catalytic residues are missing and that are thus called "pseudophosphatases." MTM1, the first identified member of this family, and MTMR2 are responsible for X-linked myotubular myopathy and Charcot-Marie-Tooth disease type 4B1, an isolated peripheral neuropathy with myelin outfoldings, respectively. Both encode active phosphatases. It is striking to note that mutations in MTMR13 also cause peripheral neuropathy with myelin outfoldings, although it belongs to a pseudophosphatase subgroup, since its closest homologue is MTMR5/Sbf1. This is the first human disease caused by mutation in a pseudophosphatase, emphasizing the important function of these putatively inactive enzymes. MTMR13 may be important for the development of both the peripheral nerves and the trabeculum meshwork, which permits the outflow of the aqueous humor. Both of these tissues have the same embryonic origin.

[Acute Guillain-Barré-like polyradiculoneuritis revealing acute systemic lupus erythematosus: two case studies and review of the literature]. / Polyradiculonévrite aiguë de type Guillain-Barré révélant un lupus érythémateux aigu disséminé: étude de deux cas et revue de la littérature.

The involvement of the peripheral nervous system in systemic lupus erythematosus (SLE) is rare and is dominated by distal symmetric axonal polyneuropathy and multiple mononeuropathy. It usually occurs in late course of the disease. Acute polyradiculoneuropathy of Guillain-Barré syndrome type is very rare and can frequently constitute the first symptom of systemic lupus. We report two cases of acute inflammatory demyelinating polyradiculoneuropathy (AIDP) complicated by respiratory failure due to systemic lupus. In the first case, the pure motor AIDP was the first manifestation of the SLE. The outcome under prednisone treatment was dramatically good with regression of clinical deficit and normalisation of nerve conduction within one month and 12 months of treatment respectively. In the second case the AIDP occurred only one week after diagnosis of SLE and corticotherapy. It was a demyelinating sensory-motor neuropathy. Clinical improvement was obtained after two cures of intravenous gammaglobulin (IVIg). The normalisation of nerve conduction was obtained within 8 months. AIDP is a very rare complication of SLE, but it should be searched as an aetiology of Guillain-Barré syndrome associated to systemic clinical symptoms or to blood inflammation. Corticotherapy could be sufficient, but in some cases the addition of IVIg or plasmapheresis might be necessary.

[Favorable course of Lance-Adams postanoxic action myoclonus]. / Syndrome de Lance et Adams d'évolution favorable.

Clinical and electrophysiologic data concerning the postanoxic action myoclonus syndrome were described by Lance and Adams in 1963. A patient presented myoclonus involving all parts of the body after laryngospasm. The myoclonus was worsened by emotion and voluntary activity and was clearly attenuated by sleep. Spectacular improvement was observed within one week after valproate and piracetam administration. Clinicians should be aware of this syndrome in order to propose appropriate treatment and avoid delay in the therapeutic decision.

[Chronic inflammatory demyelinating polyradiculoneuropathy with hypertrophy of spinal roots, brachial plexus and cranial nerves]. / Polyradiculoneuropathie inflammatoire démyélinisante chronique hypertrophique avec atteinte des nerfs crâniens: à propos de deux observations.

We report two patients who presented an atypical chronic inflammatory demyelinating polyradiculoneuropathy with massive nerve root and brachial plexus hypertrophy, and pseudotumoral supraclavicular mass. They also presented an hypertrophy of oculomotor and trigeminal nerves causing an exophthalmos and ocular palsy. Spinal root enlargement and cranial nerve hypertrophy was demonstrated by CT scanner and MRI. Brachial plexus biopsy showed a similar aspect of sural nerve, with an extensive onion bulb formation and perivascular inflammatory cell infiltration. There was an excellent response to steroids in both patients.

[Wilson's disease. Clinical presentation, treatment and evolution in 21 cases]. / La maladie de Wilson. Etude clinique, thérapeutique et évolutive de 21 cas.

PURPOSE: Wilson's disease is characterized by neuropsychiatric symptoms with frequent extrapyramidal and intellectual presentations. They have an insidious evolution that leads to a late diagnosis and less therapeutic effectiveness in the advanced forms. METHODS: We report 21 cases of Wilson's disease with neurological complications, emphasizing clinical semiology, diagnostic means and problems of the therapeutics in our country. RESULTS: The average age at the beginning of the disease was 17.6 years, with a female prevalence (8/13). The signs at first were mostly all neurological (71.4%), then psychiatric (19%) or hepatic (19%). The most common neurological signs were dystonia of members (81%), dysarthria (76%), tremors (76%) or disorders of motoricity (71.4%). Sometimes there were sialorrhea or disorders of the handwriting. The Kayser-Fleischer ring was present in 19 patients. Eighteen patients had clinical and/or biological hepatic involvement. The diagnosis was confirmed by biochemical examinations, which found a low rate of copper in blood, a sinking rate of ceruloplasmin and a very high rate of urinary copper. The cerebral computer tomography shows a cortical and/or subcortical atrophy (37%), and/or a low density of the central grey cores (35%). The treatment was based on D-penicillamine and/or zinc sulfate, according to the availability of the drugs. The evolution was favourable among 18 patients (85%) and not good in 42.8% of the cases. Six of the first patients had poor evolution after many years of follow-up. Finally, only 12 patients (57%) had a very good outcome. The family investigation made among 17 patients revealed 13 family cases. The only predictive factor of a poor evolution was the therapeutic noncompliance (P = 0.006). CONCLUSIONS: The neurological presentations are traditional during the Wilson's disease, but are often ignored. We must suspect the disease in children when faced with disorders of handwriting or school failures and in the adult, when faced with neurological symptoms in a patient having a hepatic disease. We must not hesitate to consider it even given purely psychiatric signs, and we had better know to seek the neurological ones.

[Late discovery of Lafora disease: a family study]. / La maladie de Lafora à révélation tardive.

Lafora disease is a progressive myoclonic epilepsy, Clinically defined by the association of myoclonic, epileptic fits and dementia. We report a case with an atypical Lafora disease, marked by delayed onset at 25 years of age, prolonged course, associated with secondary cognitive impairment and myoclonic features.

[Acute meningomyelitis and polyradiculoneuritis disclosing systemic lupus erythematosus]. / Méningomyélite et polyradiculonévrite aiguës révélant un lupus érythémateux disséminé

A 25-year-old male presented purulent meningitis associated with transverse myelitis. Spinal T2-weighted MRI showed a large spinal cord with an intramedullary high signal. Infection resolved with antibiotic therapy but spastic paraplegia persisted. Four months later, he developed a Guillain-Barré syndrome with clinical and biological signs of systemic lupus erythematosus. Final outcome was fatal despite corticosteroid and immunoglobulin treatment.

[Childhood Behçet's disease: clinical and evolutive aspects. About 13 cases]. / La maladie de Behçet chez l'enfant, aspects cliniques et évolutifs Agrave; propos de 13 cas.

INTRODUCTION: Behçet's disease is a systemic vasculitis which rarely occurs in childhood. The aim of this study was to evaluate clinical characteristics and outcome of Behçet's disease in Moroccan children. MATERIAL AND METHODS: A retrospective study of 13 cases of children, 10 males and 3 females with Behçet's disease followed up between 1990 and 1998. The diagnosis of Behçet's disease was based on the criteria of the international study group for Behçet's disease. All patients were studied by a complete clinical, ophthalmological and laboratory staging and treated with appropriate therapy. RESULTS: The mean age at diagnosis of Behçet's disease was 13.9 years. Familial forms were found in 30.7% of cases. Oral aphtae were noted in all cases while genital ulcers were present in 76% of cases. Cutaneous lesions were found in only 1 case and 53.8% of children had a pathergy test. Articular involvement was found in 30.7%, neurological features in 46% and vascular manifestations in 38.4%. Only one case of intestinal involvement was noted. Ocular features (76%) were bilateral in all cases and were dominated by panuveitis complicated by macular edema ant retinal vasculitis. CONCLUSION: Behçet's disease seems to have particular characteristics in childhood. Familial forms, articular and digestive manifestations appear to be more frequent in early stages of Behçet's disease in children. Neurological and vascular involvement with panuveitis seems more frequent in the older children.

[Neuropsychological disorders after bithalamic infarct caused by deep venous thrombosis]. / Troubles neuro-psychologiques après infarctus bi-thalamique par thrombose veineuse profonde.

We report a case of deep cerebral venous thrombosis with bithalamic infarction that led to neuropsychological disorders including left side visuospatial neglect, aphasia and amnesia, as well as frontal and intellectual disorders. After a six month course, the patient showed only slight intellectual deficit and mild anterograde amnesia. Deep cerebral venous thrombosis is uncommon and prognosis is poor. Reports in the literature illustrate the neuropsychological disturbances they provoke but provide little analyzable data. The positive progress in our case demonstrates that bithalamic lesions of venous origin can have a good prognosis.

[Epileptic seizures and epilepsy in subacute sclerosing panencephalitis (report of 30 cases]. / Crises épileptiques et épilepsie dans le cadre d'une panencéphalite sclérosante subaiguë (à propos de 30 cas).

Subacute Sclerosing Panencephalitis (SSPE) is becoming less frequent in Morocco since the generalization of measles vaccination in 1982. The aim of this study was first to analyze the semiological and elecrophysiological profiles of epilepsy in SSPE in both 'disease-revealing' seizures and sequellar ones, and second, to study the evolution of epilepsy and its possible prognostic value in SSPE. Among the neurological manifestations of SSPE, epilepsy is not as rare as frequently reported in the literature. In this longitudinal series concerning 70 cases of SSPE, 30 developed epilepsy. In two-thirds of our patients the epileptic seizures started in the first year of evolution; they revealed the SSPE in 23% of the cases and were sequellar in the rest. Seizures revealing the SSPE were widely dominated by partial seizures, secondarily generalized or not (86%), suggesting a focalized encephalitic process. Conversely, sequellar seizures were in most cases generalized tonic-clonic (43%), and therefore compatible with an already spread process. The EEG contributed both to the diagnosis of SSPE and to that of the epilepsy, showing epileptic abnormalities in ten patients. The outcome of epileptic seizures was very favorable under antiepileptic drugs, while that of SSPE remained severe and not modified by epilepsy. The authors underline the relative frequency of epilepsy in SSPE, the interest of the distinction between revealing and sequellar seizures, the good prognosis of epilepsy under adequate therapy, and the absence of prognostic value of epilepsy in SSPE.

[Relapsing polyneuropathy in the post-partum period]. / Polyradiculonévrite à rechutes du post-partum.

A patient had five relapses of polyneuropathy: four developed during post-partum. The rapid onset of symptoms with subsequent complete recovery are in favor of a recurrent Guillain-Barré syndrome rather than a chronic relapsing inflammatory polyneuropathy.

[Akinetic mutism and progressive supranuclear palsy-like syndrome after the shunt of an obstructive hydrocephalus. Successful treatment with bromocriptine: 2 cases]. / Mutisme akinétique et pseudo-paralysie supranucléaire progressive secondaires à la dérivation d'une hydrocéphalie obstructive. Effet bénéfique de la bromocriptine : 2 cas.

Two cases of obstructive hydrocephalus who suffered multiple shunt failures and shunt revisions are presented. The patients developed after the neurochirurgical treatment a clinical syndrome of akinetic mutism followed by a Progressive Supranuclear Palsy-like (PSP) syndrome. The akinetic mutism and the PSP-like syndrome were remarkably improved with bromocriptine.