Pellagra among chronic alcoholics: clinical and pathological study of 20 necropsy cases.

Twenty cases of pellagra, diagnosed on neuropathological grounds, were found amont 74 necropsy cases of chronic alcoholism. Although these patients had presented with various mental, neurological and gastrointestinal symptoms, the diagnosis of pellagra had not been established clinically because, in the majority, there were no skin lesions. It is emphasised that whenever chronic alcoholics exhibit certain mental, neurological or gastrointestinal symptoms, one should strongly suspect pellagra even in the absence of skin lesions (pellagra sine pelle agra).     

Pellagra: a rare complication of anorexia nervosa

Pellagra is a potentially fatal, nutritional disease with cutaneous, gastrointestinal, and neuropsychiatric manifestations. Because of the diversity of pellagra's signs and symptoms, diagnosis is difficult without an appropriate index of suspicion. A case of pellagra in a 14-year-old girl with anorexia nervosa is presented. Signs and symptoms of pellagra were resolved after niacin therapy and dietary treatment.     

A suspected case of alcoholic pellagra encephalopathy with marked response to niacin showing myoclonus and ataxia as chief complaints]

We report a 47-year-old alcoholic man with alcoholic pellagra encephalopathy (APE) showing myoclonus and ataxia as chief complaints. He had been a heavy drinker for 30 years. He had noticed appetite loss and subsequently showed a subacutely progressive gait disturbance. He had no history of diarrhea, dementia, or dermatitis. On admission, he showed severe alcoholic liver cirrhosis with a large amount of ascites, limbs and truncal ataxia, myoclonus of the limbs and areflexia, although his consciousness was alert and there were no sign of dermatitis. Though the plasma level of ammonia was normal, we started administration of amino acids suspecting hepatic encephalopathy. Symptoms showed no improvement, and subsequent administration of thiamine was also ineffective. A decreased serum level of niacin was demonstrated. After administration of nicotinamide, the symptoms improved gradually. This patient received a diagnosis of APE. Endemic pellagra, characterized by the classical triad of dermatitis, diarrhea and dementia, is known to be caused by a dietary deficiency of the niacin, and has now become very rare in developed countries. At present, pellagra is encountered most often in patients with chronic alcoholism, which is called APE. APE patients often show only disturbance of consciousness. Although several reports has described ataxia and myoclonus in patients with APE, APE patients with myoclonus and ataxia as chief complaints have not previously been reported. On autopsy cases, central chromatolysis of neurons in the dentate nucleus of the cerebellum, gracile and cuneate nuclei, and the Clarke's column has been demonstrated. The APE patients would show myoclonus and ataxia as their first symptoms. In conclusion, we would like to emphasize that administration of niacin should be started for the treatment of chronic alcoholic patients showing myoclonus and ataxia even without the classical triads found in endemic pellagra patients.     

Acute intermittent porphyria in a children's psychiatric hospital

Acute intermittent porphyria (AIP) is a rare autosomal disease that presents with gastrointestinal, psychiatric, and neurological symptoms. Bizarre behaviors are common to several illnesses present in a psychiatric setting. Most often these are manifestations of psychotic illness such as schizophrenia or manic-depressive illness, but they can also be seen in cases of organic mental dysfunction and toxic psychotic states. The author describes the disorder and reports on two cases of AIP in children who were initially diagnosed as atypical psychosis in an inpatient children's psychiatric hospital over a 3-year period.     

A case report of multiple intracranial tuberculoma associated with miliary tuberculosis and review of the literature

We reported a case of multiple intracranial tuberculoma associated with miliary tuberculosis and reviewed the cases reported as intracranial tuberculoma in the past 11 years. A 41-year-old diabetic man was admitted to our hospital for the treatment of miliary tuberculosis and respiratory insufficiency. On admissIon, he had no neurological deficits except mild consciousness disturbance due to respiratory failure. He developed headache and mental confusion three weeks after the beginning of antituberculous therapy with isoniazid, streptomycin, rifampicin, and ethambutol. Neurological examination revealed that he had progressive right hemiparesis and was in a confusional state. Enhanced CT showed multiple intracranial nodular lesions. During 6 weeks, he had progressive neurological manifestations in spite of his initial antituberculous treatment. He responded well, however, to the chemotherapy with combination of isoniazid, kanamycin, pyrazinamide and ethionamide that were sensitive to tuberculous bacilli separated from his sputum. He became minimally right-hemiparetic by 6 weeks after the change of antituberculous medication. Serial enhanced CT scan proved to be of great value in the diagnosis and follow-up study of intracranial tuberculoma. From 1978 to 1988, there were 72 reported cases of intracranial tuberculoma in Japan; 37 were male, 32 were female and 3 were uncertain because of no detailed document. The age of onset was distributed from 6 month to 81 years in age and 2 peaks were seen in the second decade and fifth to seventh decade. Thirty-three (48%) out of 69 cases had multiple intracranial lesions. A few reports commented that neurological complications tended to appear even if they were under antituberculous therapy.(ABSTRACT TRUNCATED AT 250 WORDS)     

Somatization in patients newly admitted to a neurological department

The incidence of somatization and sociodemographic, clinical and mental factors in 100 consecutive patients newly admitted to a neurological department was investigated. Forty percent of the neurological inpatients were somatizers; they reported higher levels of distress and hypochondriacal concerns and were more often considered as having significant mental disorders by the neurologists. The somatizers were similar to patients with organic symptoms with respect to sociodemographic factors, duration of and number of symptoms, mode of admission and earlier consultations of psychiatric or other specialists. Most of the patients with somatization only believed that psychological factors influenced their somatic symptoms. No sex differences were found except that female somatizers had shorter duration of admission.     

Pellagra encephalopathy following B-complex vitamin treatment without niacin

Pellagra is caused by nicotinic acid deficiency; it is rarely encountered in developed countries, and it is mainly related to poverty and malnutrition, as well as with chronic alcoholism. We report the case of an alcoholic patient who was diagnosed with pellagra and administered B-complex vitamin tablets that did not contain niacin. A few weeks later, the patient developed nervousness, irritability, insomnia and, consequently, delusional ideas and hallucinations, for which he had to be hospitalized. After his admission, the patient manifested loss of consciousness and myoclonus. All of his symptoms (cutaneous, neurological, and psychiatric) resolved fully with treatment with niacin in combination with other B-complex vitamins. All undiagnosed encephalopathies in alcoholic patients should be treated with multiple vitamin therapy, including nicotinic acid.     

Neurological manifestations of COVID-19 in confirmed and probable cases: A descriptive study from a large tertiary care center

During the early phase of the COVID-19 pandemic, it was thought that virus affects only the respiratory system. However, now it is clear that it can affect other systems too, particularly the nervous system. We aimed to identify the most common neurological symptoms and findings of COVID-19 in hospitalized patients and investigate the relationship between these symptoms and clinical, radiological, and laboratory findings. A total of 307 patients, including 125 women and 182 men, were included in the study. They were classified as “confirmed cases” or “probable cases” based on confirmatory tests, including polymerase chain reaction testing of a nasopharyngeal sample or validated antibody test. All medical records, including medical history, clinical course, laboratory data, and radiographic studies, were evaluated by two expert neurologists. Altered mental status (AMS) is the most common neurological finding in both confirmed (68.1%) and probable cases (71.8%). Pre-existing neurological diseases were detected as an independent risk factor for AMS. The mortality rate of patients with AMS was dramatically higher than normal mental status in both confirmed (43.9% vs. 6.2%) and probable cases (47.3% vs. 6.9%) (for both p:0.001). The frequency of seizure attacks was 13.2% in confirmed and 17.5% in probable cases (p:0.321). The mortality rate was higher in patients with a seizure attack in both groups. We conclude that AMS was one of the most common neurological manifestations in this cohort of COVID-19 patients. The development of mental deterioration increases mortality dramatically. Also, the existence of seizure attacks was associated with a high mortality rate.     

Neurologic complications in inflammatory bowel diseases

Some inflammatory diseases of the gastrointestinal system are associated with neurological symptoms which, in rare cases, may precede the onset of the gastrointestinal manifestation of the disease. Celiac sprue is characterized by an intolerance to the wheat protein gluten. The typical neurological manifestation of celiac sprue is cerebellar ataxia. The ataxia as well as the gastrointestinal symptoms can be treated with a strictly gluten-free diet. The neurological symptoms of Whipple's disease, a disorder caused by gram-positive bacilli, are variable. Typical symptoms of cerebral Whipple's disease include dementia, ophthalmoplegia, movement disorders, and signs of hypothalamic dysfunction. Nowadays, the diagnosis of cerebral Whipple's disease is made by PCR detection of the bacilli in the CSF. Crohn's disease and ulcerative colitis are associated with neurological symptoms to a similar proportion. Various forms of polyneuropathies have been observed. The CNS manifestations of inflammatory bowel diseases include thromboembolic stroke, cerebral venous thrombosis, and cerebral vasculitis.     

An atypic case of acute disseminated encephalomyelitis; presenting with prolonged depressive symptoms

Acute disseminated encephalomyelitis (ADEM) is an inflammatory, immune-mediated disease of central nervous system. Typically, various degrees of mental state alterations and multifocal neurological deficits can be observed in these cases. The disease usually progresses in a few hours to days.Presentation with psychiatric symptoms is not often. Recently there are a few cases reported to have psychotic symptoms as the initial signs.Here we report on an unusual case of ADEM who had presented with depressive symptoms and whose psychiatric symptoms continued for 3 weeks before multifocal neurological deficits occurred.     

The spectrum of neurological disease in patients with systemic cancer.

To ascertain the range of neurological problems in patients with systemic cancer, we prospectively evaluated neurological symptoms, neurological diagnoses, and primary tumors in all patients with a history of systemic cancer examined by the Department of Neurology at the Memorial Sloan-Kettering Cancer Center, from Jul 1, 1990, to Dec 31, 1990. Of the 815 patients seen for neurological symptoms, less than half (45.2%) had metastatic involvement of the nervous system. The three most common symptoms were back pain (18.2%), altered mental status (17.1%), and headache (15.4%). The most common neurological diagnosis was brain metastasis (15.9%), followed by metabolic encephalopathy (10.2%), pain associated with bone metastases only (9.9%), and epidural extension or metastasis of tumor (8.4%). Of 133 patients with undiagnosed back or neck pain, 44 (33%) had epidural extension or metastases from tumor and 40 (30%) had pain associated with vertebral metastases only. In 15 (11%) the cause for the back pain was unrelated to metastatic disease. Of 132 patients seen on initial consultation for altered mental status, metabolic encephalopathy was the major neurological diagnosis (80; 61%); 20 (15%) had intracranial metastases. Of 97 patients with undiagnosed headache, 59 (61%) had a nonstructural cause. Fifty-three of these patients had either migraine, tension headache, or headache related to systemic illness (e.g., fever, sepsis). These results indicate that even in patients with systemic cancer, a group particularly prone to developing neurological disease that can be diagnosed radiologically, the role of clinicians remains important in helping distinguish noncancer-related and nonmetastatic neurological problems.     

Wernicke encephalopathy after gastrointestinal surgery for cancer: causes of diagnostic failure or delay

Wernicke encephalopathy (WE) is a neurological emergency due to thiamine deficiency. We aimed to identify clinical course and causes of diagnostic delay or failure of WE in a group of patients who underwent surgery for gastrointestinal tumors. A retrospective review of clinical, laboratory, neuroimaging, and therapeutic features of 10 patients with WE following abdominal surgery for cancer was carried out. Four patients died; in these subjects, diagnosis was delayed and supplementation of vitamin was absent or likely inadequate. Diagnostic delay or failure was also related to the coexistence of several medical complications at presentation masking typical symptoms of WE. In the surviving patients, outcome was influenced by promptness and type of therapy. Postoperative abdominal bleeding and number of subsequent operations may also had an effect. Postsurgical patients with gastrointestinal tumors may develop a subtle WE. The number of subsequent operations and the severity of postoperative complications may increase the risk of unrecognized WE. The disease should be suspected in postsurgical patients who have unexpected mental status changes, even under prophylactic treatment with vitamins. We suggest that prophylaxis with high doses of thiamine should be undertaken in patients with gastrointestinal tumors before surgery.     

Quantitative evaluation of functional capacity during isoniazid therapy in huntington's disease

Eleven patients with Huntington's disease were treated with high doses of isoniazid. In addition to clinical assessment, the functional capacity was evaluated quantitatively. The symptoms of four of the patients showed a marked improvement and their functional capacity increased. The condition of one patient with the rigid form (Westphal's variant) deteriorated, and the remaining six patients showed no change. Patients with prominent mental disturbances appeared to respond best to isoniazid therapy.     

Is screening for urinary porphobilinogen useful among patients with acute polyneuropathy or encephalopathy?

Acute porphyrias are a group of inherited metabolic disorders representing overproduction syndromes with the formation of neurotoxic haem precursors. Clinical manifestations consist of acute attacks, which include abdominal pain, dysautonomia, mental symptoms, polyneuropathy and seizures mimicking many other acute neurological disorders.Porphyrin metabolites were screened in 108 patients with acute polyneuropathy or encephalopathy associated with pain and/or dysautonomia, who attended neurological wards, in order to evaluate the number of patients with acute porphyria.Urinary porphyrins and their precursors were increased in 21% of the cases. Surprisingly many patients (11%) had previously undiagnosed acute porphyria. Half of these patients had had mild to moderate symptoms of acute porphyria previously. Secondary porphyrinuria, which was mainly transient coproporphyrinuria because of hepatopathy, was also common (10%). Of the 108 patients studied, the levels of urinary porphyrins or their precursors were normal in the majority (79%) of the cases, who commonly had Guillain-Barré syndrome (40%). Epileptic seizures were also frequent (18%), but none of the patients with acute porphyria had solely epileptic seizures without prolonged confusion (>or= 1 day).Based on our findings, acute inherited porphyria is not infrequent among the selected group of neurological patients and screening of urinary PBG is cost-beneficial. Since the correct diagnosis of a hereditary disease is essential, genetic screening should be performed whenever possible for patients with clinically and biochemically confirmed acute porphyria.     

介入栓塞术与开颅夹闭术治疗前交通破裂动脉瘤的疗效与安全性比较

目的比较介入栓塞及开颅夹闭治疗ACoA破裂的疗效。方法将44例ACoA根据动脉瘤解剖特点、临床表现及患者意愿分为治疗组18例和对照组26例,治疗组采用介入栓塞,对照组采用开颅夹闭,比较分析两组疗效。结果介入组成功栓塞17例,再破裂1例,1例因血管迂曲无法栓塞转为开颅夹闭。出院时恢复良好15例,遗有神经功能缺损2例(记忆力减退1例,单侧下肢肌力减退1例)。开颅组成功夹闭27例(1例由介入组转来),术后脑疝2例,神经功能损伤1例(运动性失语),出院时恢复良好18例,遗有神经功能缺损2例(运动性失语1例,精神症状1例),昏迷7例。结论两者均是前交通破裂动脉瘤的有效治疗方法,介入栓塞术后严重并发症较开颅夹闭少,安全性较高。     

Studies on pediatric patients with absent auditory brainstem response (ABR) later components

Eleven pediatric patients with only wave I or waves I and II of their ABR were clinically analyzed. The clinical diagnoses of these patients were as follows: 1) anoxic encephalopathy in two cases; 2) neonatal asphyxia in one; 3) infantile Gaucher's disease in one; 4) mitochondrial encephalomyopathy in one; 5) suspected Pelizaeus-Merzbacher disease in three; 6) degenerative disease of unknown etiology in two (presumptive diagnosis were progressive supranuclear palsy and dentate-rubro-pallido-Luysian atrophy); and 7) infantile spasms with congenital malformation of the brain and bones in one. The incidence of the patients with this type of ABR abnormality was 0.67% among 1,650 of our pediatric patients whose ABRs were examined because of audiological or neurological problems. All eleven patients showed severe mental retardation. Nine of the eleven had convulsions and likewise, eight of eleven showed deterioration in mental and/or motor activities. Furthermore seven of eleven had disturbed consciousness and four of these seven were in deep coma. Other brainstem and bulbar signs and symptoms were frequently found in these patients. In our series, patients without the later components of ABR manifested marked neurological abnormalities inside and outside the brainstem.     

Neurologic presentation of Erdheim-Chester disease

Erdheim-Chester disease is a rare, systemic histiocytosis that involves multiple organ systems and causes symmetric sclerosis of the metaphysis and diaphysis of the long bones. We present 2 cases and reviewed 108 patients reported in the literature who had neurologic manifestations of Erdheim-Chester disease. After eye involvement or diabetes insipidus, cerebellar symptoms were most frequently encountered, followed by tumor, headaches, cord compression, mental status change, seizures, and change in libido. A wide range of neurological symptoms can be seen in ECD. Therefore we hope the review brings more awareness about this disorder.     

Various central nervous system involvements in dystrophinopathy: clinical and genetic considerations

Duchenne and Becker muscular dystrophies, generically called dystrophinopathy, are caused by mutations of the dystrophin gene. It is not surprising that mutations of the dystrophin gene cause various neurological symptoms, since dystrophin protein is found in the brain tissue as well as in the muscle fiber cell membrane. However, few studies have reported on the frequency of central nervous complications other than mental retardation. Also, the relationship between the types of abnormal dystrophin gene and central nervous symptoms remains to be revealed. Medical records of 200 patients with dystrophinopathy from 167 extended families who had visited our institution during the past 15 years were reviewed to elucidate the frequency of central nervous complications. Fifty-four (27%) had mental retardation (an intelligence quotient less than 70), 15 (7.5%) had autism, 12 (6%) had epilepsy. 8 (4%) had febrile convulsion. 131 of these patients also underwent genetic testing. All patients with central nervous symptoms except one pair of siblings had some form of genetic deficiency or duplication distal to exon 44. Central nervous symptoms other than mental retardation are also common in patients with dystrophinopathy. These central nervous complications may be associated with mutations in the isoforms derived from exon 44 to 79.     

Parkinsonism, FXTAS, and FMR1 premutations.

The presence of late-onset neurological symptoms in male carriers of premutation expansions of the fragile X mental retardation 1 (FMR1) gene has been described recently. One of the clinical symptoms in this fragile X-associated tremor/ataxia syndrome (FXTAS) is parkinsonism. To test the possible association between expanded FMR1 alleles and Parkinson's disease (PD), we determined the size of the FMR1 CGG repeat in 414 male cases of clinically diagnosed parkinsonism, the majority of whom had PD. None of our patients had expanded FMR1 repeats within the premutation range (55-200 CGG repeats). Five patients (1.2%) carry intermediate-size alleles (41-54 CGG repeats). Expansions within the FMR1 gene are not associated with PD in our study.     

肝性脊髓病临床诊治分析

目的 分析肝性脊髓病的临床特点及治疗方法.方法 对临床确诊的6例肝性脊髓病的临床资料进行回顾性分析.结果 6例患者均表现为双下肢痉挛性瘫痪,虽经积极降氨等治疗,但恢复差.随访2例死于肝昏迷、消化道大出血,余2例2 a内未好转.结论 HM患者以下肢痉挛性瘫痪为主要表现,多为神经功能不可逆损害,内科治疗效果不佳,肝移植可能为目前最好的治疗方法.