Neurological manifestations in xeroderma pigmentosum

Xeroderma pigmentosum is an unusual neurocutaneous disorder. Recent studies have classified patients with xeroderma pigmentosum into 10 groups by somatic cell hybridization methods. In this report we describe 32 patients with Group A xeroderma pigmentosum, including 1 patient with an atypical case, who were assessed for neurological complications. Of these patients, 17 had microcephaly, 13 short stature, and 21 mental retardation. In patients over 7 years of age, sensorineural deafness and spinocerebellar signs such as nystagmus, dysarthria, tremor, and ataxia were frequently observed; no patients below 7 years of age had such neurological complications. Electroencephalographic studies revealed abnormal slow and low voltage background activity. Two patients had focal abnormal discharges, one of whom developed versive seizures. Cranial computed tomographic scans revealed abnormalities, including ventricular dilatation, cerebral atrophy, cerebellar and brainstem atrophy, and cranial bone thickening. A patient with an atypical case of Group A xeroderma pigmentosum had less skin and neurological involvement, and higher levels of postultraviolet colony-forming ability and host cell reactivation than did a typical Group A case. It is possible that these less severe cytological findings are responsible for the less severe skin lesions and neurological complications noted clinically.     

Neurological manifestations in Fabry's disease

Fabry's disease is an X-linked lysosomal storage disorder caused by a defect in the gene that encodes the lysosomal enzyme alpha-galactosidase A. Symptoms arise because of accumulation of globotriaosylceramide in multiple organs, resulting in severely reduced quality of life and premature death. Neurological symptoms, such as burning sensations (occasionally accompanied by acroparesthesia) and stroke, are among the first to appear, and occur in both male and female patients. A delay in establishing the diagnosis of Fabry's disease can cause unnecessary problems, especially now that enzyme replacement treatment is available to prevent irreversible organ damage. Females with Fabry's disease who present with pain have often been ignored and misdiagnosed because of the disorder's X-linked inheritance. This Review will stress the importance of recognizing neurological symptoms for the diagnosis of Fabry's disease. The possible pathophysiological background will also be discussed.     

神经系统表现为主的肉毒杆菌中毒三例

目的探讨肉毒杆菌中毒的神经系统表现。方法分析3例肉毒杆菌中毒患者的临床资料。结果 3例患者病前均食用变质酸豆酱,以眼肌无力为首发症状。2例(例1,例2)患者出现呼吸困难,经注射A型、B型肉毒抗毒素、机械辅助呼吸后症状好转。3例患者经2年随访均无后遗症及复发。结论肉毒杆菌中毒主要表现为眼部、口咽部麻痹、四肢对称性驰缓性瘫痪等症状,严重者出现呼吸衰竭。早期诊断、尽早、足量使用肉毒抗毒素是救治的关键。     

Neurological manifestations of leprosy

Leprosy, also known as Hansen's disease, is a chronic, infectious disease caused by Mycobacterium leprae. Bacilli localize preferentially in the skin and peripheral nerves and have a propensity to cause nerve damage. The resulting disability has caused great suffering for victims in many countries. Despite recent advances in the immunopathogenesis, epidemiology and prognostic factors of leprosy nerve damage, many aspects of the disease have remained enigmatic. The spectrum of clinical and pathological manifestations of the disease ranges from lepromatous to tuberculoid, depending on the host's T-cell-mediated immune response. Diagnosis is based on three criteria: characteristic skin lesions in association with thickened nerves, demonstration of acid fast bacilli in slit skin smears, and histopathology of skin biopsies. Nerve biopsy is necessary to establish the diagnosis of pure "neural leprosy". In developed countries, the diagnosis is suspected when a patient who has stayed in an endemic area suffers from a peripheral neuropathy of unknown etiology. To facilitate determination of the appropriate antibiotic regimen, patients are classified as either paucibacillary or multibacillary. Some patients may have multibacillary leprosy in nerves and paucibacillary leprosy in skin, which emphasizes the usefulness of nerve biopsy. The course of the disease is often complicated by immune mediated "reactions", which can rapidly lead to further nerve damage, namely reversal reaction and erythema nodosum leprosy. However, nerves are often functionally impaired before developing obvious symptoms such as skin reactions or nevralgia (silent neuropathy). Early recognition and prompt treatment with corticosteroids of leprous reactions and "silent neuropathies" is very important to prevent disability with all its attendant problems. Research progress from clinical trials may improve current methods of prevention and treatment of nerve damage in leprosy.     

Neurological manifestations of Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome (EDS) is more identified for its cutaneous features but its neurological manifestations have not received the focused attention. Four patients of Ehlers-Danlos Syndrome (EDS) with neurological manifestations were evaluated for phenotypic data. These four men were from three families and two had consanguineous parentage. The mean age at onset and presentation of neurological symptoms were 10.5 years and 19 years respectively. Patient 1 presented with bilateral optic atrophy, sensorineural deafness, cerebellar ataxia and neuropathy. Patient 2 had marfanoid habitus, chorea and cerebellar ataxia. Patient 3 had action and percussion myotonia, wasting and weakness of sternocleidomastoid and distal limb muscles. Patient 4 had action myotonia, mirror movements of both hands and neuropathy. MRI of brain showed right parietal polymicrogyria. Neuroaxis involvement at multiple levels in EDS may have prognostic significance.     

Neurological manifestations of malaria.

The involvement of the nervous system in malaria is reviewed in this paper. Cerebral malaria, the acute encephalopathy which complicates exclusively the infection by Plasmodium falciparum commonly affects children and adolescents in hyperendemic areas. Plugging of cerebral capillaries and venules by clumped, parasitized red cells causing sludging in the capillary circulation is one hypothesis to explain its pathogenesis. The other is a humoral hypothesis which proposes nonspecific, immune-mediated, inflammatory responses with release of vasoactive substances capable of producing endothelial damage and alterations of permeability. Cerebral malaria has a mortality rate up to 50%, and also a considerable longterm morbidity, particularly in children. Hypoglycemia, largely in patients treated with quinine, may complicate the cerebral symptomatology. Other central nervous manifestations of malaria include intracranial hemorrhage, cerebral arterial occlusion, and transient extrapyramidal and neuropsychiatric manifestations. A self-limiting, isolated cerebellar ataxia, presumably caused by immunological mechanisms, in patients recovering from falciparum malaria has been recognized in Sri Lanka. Malaria is a common cause of febrile seizures in the tropics, and it also contributes to the development of epilepsy in later life. Several reports of spinal cord and peripheral nerve involvement are also available. A transient muscle paralysis resembling periodic paralysis during febrile episodes of malaria has been described in some patients. The pathogenesis of these neurological manifestations remains unexplored, but offers excellent perspectives for research at a clinical as well as experimental level.     

Neurological manifestations of celiac disease

Celiac disease (CD/ Nontropicalsprue, gluten-sensitive enteropathy) is a malabsortive condition in which an allergic reaction to the cereal grain-protein gluten (present in wheat, rye and barley) causes small intestine mucosal injury. The onset is in the first four decades of life, with a female to male ratio of 2:1. It may be associated with a wide spectrum of neurological manifestations including cerebellar ataxia, epileptic seizures, dementia, neuropathy, myopathy and multifocal leucoencephalopathy. We report three patients with neurological manifestations related with CD: one with cerebellar ataxia, one with epilepsy and one with cognitive impairment. The diagnosis of CD was confirmed by serologic tests (antiendomysial and antigliadin antibodies) and biopsy of the small intestine. In two patients the neurological symptoms preceded the gastrointestinal abnormalities and in all of them gluten restriction failed to improve the neurological disability. CONCLUSION: CD should be ruled out in the differential diagnosis of neurological dysfunction of unknown cause, including ataxia, epilepsy and dementia. A gluten free diet, the mainstay of treatment, failed to improve the neurological disability.     

Neurological manifestations of xeroderma pigmentosum

Xeroderma pigmentosum is a genodermatosis with neurological manifestations in approximately 18p. 100 of cases. Polymorphous and variably associated signs are observed, progressing with the clinical course. The etiology of the neurological breach remains unknown. We report two siblings who had xeroderma pigmentosum with intellectual deficiency, a pyramidal, cerebellar and cordonal syndrome, ophthalmoplegia, and axonal peripheral neuropathy. We discuss the epidemiological, clinical and electrophysiological aspects of the neurological breach in xeroderma pigmentosum.     

Neurological manifestations of falciparum malaria

Plasmodium falciparum remains one of the most common causes of central nervous system infection worldwide. Recently, differences between the pathophysiology of cerebral malaria in African children and nonimmune adults have been discovered, new syndromes occurring after malaria infection described, and mechanisms for the pathogenesis proposed. In addition, new antimalarial agents have been examined worldwide and initial studies on supportive studies conducted. This paper reviews these new advances, putting them into the perspective of the more established knowledge.     

Neurological manifestations of Erdheim-Chester disease

Erdheim-Chester disease is a rare sporadic systemic histiocyticdisease of unknown aetiology that affects multiple organ systems. Thecase records of all patients with Erdheim-Chester disease who had beenseen at the Mayo Clinic between 1975 and 1996 were reviewed to assessthe neurological manifestations of the disease. Two of 10 patients hadneurological involvement. A 42 year old woman developed centraldiabetes insipidus and a progressive cerebellar syndrome. Brain MRIshowed a lesion in the left pons with patchy gadolinium enhancement andT2 weighted signal abnormalities extending into both cerebellarpeduncles and the medulla. Biopsy of the brainstem mass showed axanthogranulomatous lesion. The second patient was a 53 year old manwith retroperitoneal fibrosis secondary to xanthogranulomatousinfiltration. Although he had no neurological symptoms and a normalneurological examination, MRI of the head showed multiple uniformlyenhancing extra-axial masses along the dura of both convexities and thefalx, and a mass in the left orbital apex. Both patients had thecharacteristic radiographic and bone scan findings of Erdheim-Chesterdisease. Review of the literature disclosed a wide variety ofneurological manifestations in Erdheim-Chester disease. The mostfrequent CNS manifestations are diabetes insipidus, cerebellarsyndromes, orbital lesions, and extra-axial masses involving the dura.

     

Neurological manifestations of alveolar echinococcosis

Among 78 cases of alveolar echinococcosis reported in Lorraine, France, 5 had neurologic complications which in 3 cases revealed the disease. Results of parasitic tests are discussed and emphasis is placed on differences between this disease and hydatidosis. Encephalic localizations (3 cases) were multiple making neurosurgery impossible. The outcome was fatal in 2 cases: 1 month after the initial neurologic signs in the absence of treatment (case 1) and 4 months after treatment with flubendazole (case 2). This drug was however effective in the 3rd case (hepatic, pulmonary and cerebral form) with follow-up now at 4 years. Epidemiologic, histopathologic, clinical, diagnostic characteristics and course of these encephalic localizations are reviewed. Spinal localizations (2 cases) presented with a picture of spinal cord compression. After laminectomy and flubendazole, the course was marked by relapse with death in one case and a satisfactory neurologic course with a 4 year follow-up in the other one.