Case of non-alcoholic pellagra following gastrectomy]

A 67-year-old man was admitted to our hospital in May 2006 because of gait disturbance, delirium and myoclonus along with dermatitis and diarrhea. Those symptoms became worse in 3 months. He had undergone a gastrectomy, including a fundectomy and jejunal pouch interposition, for early gastric cancer at the age of 65 years. He had no habit of drinking alcohol or unbalanced diet. The triad of typical dermatitis, delirium, and diarrhea led to a diagnosis of pellagra, and all the symptoms disappeared after intravenous administration of nicotinate and vitamins. With a gastrectomy, fundectomy performed with jejunal pouch interposition has been regarded as a superior method for postoperative nutrition, but may cause vitamin deficiency. Thus, vitamin deficiency must be considered as a potential cause in neurologic patients who underwent surgical treatment for disorders of digestive tract, regardless of the procedure utilized.     

Commentary: Hoarseness in pellagra

Pellagra is the clinical manifestation of niacin deficiency. The classical manifestations of pellagra include diarrhea, dementia, and dermatitis, but not all patients with pellagra present with all three manifestations. In this issue of the Journal of Clinical Neuroscience Hiraga et al. present an interesting patient with pellagra who has laryngitis and hoarseness. Clinicians should remain alert for both the common and uncommon clinical manifestations of pellagra.     

Morel's laminar sclerosis showing apraxia of speech: Distribution of cortical lesions in an autopsy case

A 57‐year old man with chronic alcoholism presented with apraxia of speech and disturbance of consciousness. He had a history of gastrectomy and had been drinking alcohol. The symptoms improved with administration of thiamine, but he later developed diarrhea and delirium, and died approximately 40 days after the onset. Autopsy findings were consistent with Wernicke's encephalopathy and pellagra encephalopathy. Furthermore, laminar cortical necrosis with vacuoles and astrocytosis was found in the second and third layers of the bilateral frontal cortices, suggesting Morel's laminar sclerosis. The lesions were mainly located in the bilateral primary motor cortices. Involvement of the lower part of the left primary motor cortex may be associated with apraxia of speech in our case.     

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.     

Atypical Wernicke's encephalopathy showing lesions in the cranial nerve nuclei and cerebellum.

Wernicke's encephalopathy (WE) is a severe neurological disorder caused by a dietary deficiency of Vitamin B1 and characterized by consciousness changes, ocular abnormalities, and ataxia. Wernicke's encephalopathy is considered a medical emergency and treatment consists of intravenous thiamine administration. Typically in alcoholic and nonalcoholic patients magnetic resonance shows alterations in the mamillary bodies, medial thalami, tectal plate, and periaqueductal regions. We report here on a nonalcoholic atypical case of WE which presented with reversible symmetrical lesions in the cranial nerves nuclei and in the cerebellum alongside the classic neuroradiological findings.     

Pellagra encephalopathy among tuberculous patients: its relation to isoniazid therapy.

Eight cases of pellagra, diagnosed on the grounds of neuropathological findings and retrospective study of clinical data, were found among 106 necropsy cases of tuberculosis. Although these eight patients had shown various mental, neurological and gastrointestinal symptoms, as well as skin lesions, the diagnosis of pellagra had not been made clinically. In all the patients, pellagra symptoms appeared during isoniazid therapy. Death occurred 4 to 16 weeks later. Isoniazid inhibits the conversion of tryptophan to niacin and may induce pellagra, particularly in poorly nourished patients. Pellagra should be suspected whenever tuberculous patients under treatment with isoniazid develop mental, neurological or gastrointestinal symptoms, even in the absence of typical pellagra dermatitis.     

Uraemic myoclonus: an example of reticular reflex myoclonus?

Two patients are described who developed action, reflex myoclonus during acute renal failure. In both cases the myoclonus was abolished after the intravenous administration of clonazepam. We suggest that the characteristic action myoclonus, which occurs in both acute renal failure and postanoxic encephalopathy, is caused by a disturbance of function in the lower brainstem reticular formation.     

Case of prolonged recovery from serotonin syndrome caused by paroxetine]

We report a case of serotonin syndrome in a patient being treated with paroxetine for depression. Despite prompt discontinuation of medication, his serotonin syndrome continued for 10 days before full consciousness was restored. The patient was a 48-year-old male with chief complaints of hypobulia and suicidal thoughts. He consulted as a psychiatric outpatient, and oral paroxetine 20 mg/day, etizolam 1.0 mg/day, and brotizolam 0.25 mg/day were immediately started. Upsurge of feeling and disinhibition state were noted the following day, then on treatment day 6 his condition deteriorated to substupor state and he was admitted for further treatment. On admission, change of mental condition (consciousness disturbance), perspiration, hyperreflexia, myoclonus and tremor were seen, and serotonin syndrome caused by paroxetine was suspected. Paroxetine was thus discontinued, and under intravenous drip his condition gradually improved. However, it was not until the 10th hospital day that he became fully alert. In examinations, no infectious, metabolic or organic diseases were detected. The patient's condition often improves with in 24 hours of discontinuation of the causative medication in serotonin syndrome. Symptoms continued for 10 days in this patient, however, perhaps because paroxetine was administered for 6 days before discontinuation. In addition, interaction with other medications may have occurred. Therefore, when serotonin syndrome is suspected, prompt discontinuation of the suspected causative medication, followed by close monitoring of the pharmacokinetics is warranted.     

Progressive myoclonus ataxia: Time for a new definition?

Background: The clinical demarcation of the syndrome progressive myoclonus ataxia is unclear, leading to a lack of recognition and difficult differentiation from other neurological syndromes. Objectives: The objective of this study was to apply a refined definition of progressive myoclonus ataxia and describe the clinical characteristics in patients with progressive myoclonus ataxia and with isolated cortical myoclonus. Methods: A retro‐ and prospective analysis was performed in our tertiary referral center between 1994 and 2014. Inclusion criteria for progressive myoclonus ataxia patients were the presence of myoclonus and ataxia with or without infrequent (all types, treatment responsive) epileptic seizures. Inclusion criteria for isolated cortical myoclonus was the presence of isolated cortical myoclonus. Clinical and electrophysiological characteristics data were systematically scored. Results: A total of 14 progressive myoclonus ataxia patients (males, 7; females, 7), median age 14.5 years, and 8 isolated cortical myoclonus patients (males, 2; females, 6), median age 23.5 years, were identified. In 93% of the progressive myoclonus ataxia patients, ataxia started first (median 2 years) followed by myoclonus (4 years) and finally infrequent epilepsy (9.3 years), with a progressive course in 93%. In 64% of the progressive myoclonus ataxia patients, a genetic underlying etiology was identified, including 3 not earlier reported causative progressive myoclonus ataxia genes. In isolated cortical myoclonus patients, myoclonus started at (median) 12 years with progression over time in 63% and a single epileptic seizure in 1 patient. No genetic causes were identified. Conclusion: Using a refined definition, we could create a rather homogenous progressive myoclonus ataxia group. Patients with isolated cortical myoclonus have a different course and do not appear to evolve in progressive myoclonus ataxia. The refined progressive myoclonus ataxia definition is a successful first step toward creating a separate syndrome for both clinical practice and future genetic research. © 2018 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.     

慢性海洛因中毒性脑病

目的 :报道 3例 (男 2例 ,女 1例 )慢性海洛因中毒性脑病的临床和 MRI特征 ,并结合文献进行分析。 3例均有明确吸毒史 (吸毒时间 3～ 5年 ) ,表现为进行性智能障碍、言语障碍、肌张力障碍及共济失调等慢性脑损害的特点 ,1例 (女性 )发展为意识障碍。头颅 MRI显示双侧镜像般对称性大脑白质、内囊后肢、内侧丘系、胼胝体、中脑及小脑半球内白质广泛性长 T1 、长 T2 信号 ,无强化 ,似脱髓鞘改变。经皮质激素治疗后 ,2例 (男性 )好转 ,1例无改善。因此 ,认识慢性海洛因中毒性脑病的临床及影像学特征是十分重要的 ,及时诊治可望使病情得到缓解     

Benign brainstem encephalopathy with truncal ataxia--a clinical study of 3 cases]

Three cases (case 1, female, aged 30; case 2, male, aged 32; case 3, male, aged 34) of benign brainstem encephalopathy with truncal ataxia were reported. Two patients had prodromal symptoms Neurological examination revealed truncal ataxia in all cases. As additional neurological signs, anisocoria, mydriasis, nystagmus, ptosis, transient opsoclonus, and facial palsy were seen. There was neither drowsiness nor myoclonus in the three cases. On laboratory examinations, cold agglutination test revealed significant elevation in two cases. The examination of cerebrospinal fluid showed a moderate rise of proteins in one case, but did not revealed pleocytosis in any of the cases. Magnetic resonance imaging of one patient revealed an area of high intensity in the left pontine tegmentum by T2-weighed imaging. The prognosis for all these cases was good, and the reappearance of neurological signs was not present until now. Our cases were different from brainstem encephalitis (Bickerstaff's encephalitis) because of an absence of disturbed consciousness and no pleocytosis in the cerebrospinal fluid. Our cases were also different from "myoclonus-opsoclonus syndrome" because of an absence of myoclonus. We discussed a possibility of a new clinical syndrome which we call "benign brainstem encephalopathy with truncal ataxia".     

Wernicke's encephalopathy associated with hemodialysis: report of two cases and review of the literature.

Two rare cases of Wernicke's encephalopathy (WE) in non-alcoholic patients on hemodialysis (HD) are reported. They presented with the clinical triad of WE (ophthalmoplegia, ataxia and disturbance of consciousness) and intravenous administration of thiamine led to complete elimination of these manifestations. Reduced plasma thiamine levels prior to the administration confirmed the diagnosis of WE. Interestingly, a reduction in plasma thiamine levels by about half was seen in one of the patients on HD, suggesting that thiamine, a water-soluble vitamin, can be depleted with HD. In the literature, nine HD-dependent patients have been reported to develop WE, seven of whom were diagnosed postmortem. Their premortem diagnoses included uremic encephalopathy, dysequilibrium syndrome and dialysis dementia, which can often complicate HD and present symptoms similar to those of WE. We therefore emphasize that WE, even though a rare complication, should be suspected in all patients on HD who present with at least one of the clinical triad of WE.     

Unusual MR findings of Wernicke encephalopathy with cortical involvement]

We report a 48-year-old chronic alcoholic man, who developed consciousness disturbance, oculomotor paresis, and flaccid tetraplegia. His dietary habit was very poor since one month prior to the present admission and he was drinking alcoholic beverage. On admission on April 19, 1999, he showed disturbance of consciousness, tetraparesis without sensory disturbance, gaze paresis, and vertical nystagmus on downward gaze. His blood thiamine level was 12 ng/ml (normal range: 23.8-45.9). MRI demonstrated symmetric hyperintense lesions in the motor and premotor cortices bilaterally, in addition to other changes indicating Wernicke's encephalopathy. His motor weakness and oculomotor disturbance improved after treatment with intravenous thiamine. His cortical MRI also normalized. We believe that his cortical abnormality was responsible for his motor paresis and this is an unusual and unique finding for Wernicke's encephalopathy.     

Effectiveness of trihexyphenidyl against pendular nystagmus and palatal myoclonus: evidence of cholinergic dysfunction

Palatal myoclonus and acquired pendular nystagmus result from lesions in dentatorubroolivary pathways. We have investigated the effect of high doses of the anticholinergic drug trihexyphenidyl in four patients with palatal myoclonus and in four patients with acquired pendular nystagmus. The movements of each patient were videotaped three times: before administration of trihexyphenidyl, at the time of maximum or effective dosage, and after withdrawal from trihexyphenidyl. In five patients the movements were also electrographically recorded. A neurologist not familiar with the patients reviewed the tapes and rated the changes. In seven of eight patients, administration of trihexyphenidyl resulted in marked improvement of both movements and complaints by patients. This observation indicates that disturbance of cholinergic mechanisms plays an important role in the pathophysiology of these two movement disorders.     

Serotonin syndrome caused by tandospirone citrate alone]

We describe a case of serotonin syndrome provoked by tandospirone citrate alone, a serotonergic antianxiety agent. A 42-year-old alcoholic woman started to take tandospirone (30 mg/day in 3 divided doses) because of psychosomatic complaints. One month later, dellirium, marked rigidity and myoclonus in the neck and extremities, fever, hyperhidrosis and diarrhoea developed in succession. Tandospirone was discontinued, and all symptoms disappeared within the following 6 days. We diagnosed her condition as serotonin syndrome, although alcoholic withdrawal syndrome might have superimposed. Serotonin syndrome caused by tandospirone alone has not been reported, although it is widely used in Japan.     

Myoclonic encephalopathy and diabetes mellitus in a boy

We describe an 18-month-old boy with insulin-dependent diabetes mellitus who developed idiopathic myoclonic encephalopathy (dancing eye syndrome) at 26 months of age. The neurological symptomatology (multifocal myoclonus, opsoclonus, ataxia, behavioural disturbance) developed within 10 to 14 days after presentation. Biological, neuroradiological, and scintigraphic examination excluded CNS infectious diseases, intoxication, or tumours. At onset of diabetes mellitus, anti-glutamic-acid decarboxylase (GAD) antibodies were observed, and markedly increased in titre when myoclonic encephalopathy occurred. Corticosteroid treatment resulted in a decrease in anti-GAD autoantibody titres and the disappearance of neurological disturbances. As GAD is expressed both in pancreatic beta-cells and cerebellar Purkinje cells, it is possible that a common autoimmune disorder in this patient may account for both the diabetes and myoclonic encephalopathy.     

Benign type of central pontine myelinolysis in alcoholism

Nine alcoholic patients with central pontine myelinolysis (CPM),who showed a favorable prognosis, are reported. The majority of them had taken part in binge drinking and had a subsequent consciousness disturbance for 18.1±10.9 (mean±SD) days. None of the patients had had acute correction of hyponatremia. Truncal ataxia and gait instability were present in most of the patients after recovery from the disturbance of consciousness. Most of them eventually gained independence, and magnetic resonance imaging showed that their pontine lesions tended to shrink. Electrophysiological studies detected prolonged latency between the I and III waves in auditory brainstem responses and between N11 and P13/14 onsets in the somatosensory evoked potentials. These clinical, radiological and electrophysiological findings should be of use in diagnosing CPM.     

A case of cerebellar ataxia showing severe dystonia masquerading as myoclonic jerky movements on arm extension]

A 43-year-old man was admitted to our hospital due to unstable walking, head tilting to the left and difficulty in extending his arm. He was quite healthy until the age of 20 years, when these symptoms appeared and progressed slowly afterward. Due to his unstable walking, he started to use a wheelchair when he was 39 years old. He had no family history of similar disease. On admission, neurological examination revealed spasmodic torticollis, ataxic speech and marked limb and truncal ataxia. Myoclonic jerky flexion of the forearm was induced when he raised and extended his forearm. He also showed mild hyperreflexia in the lower limbs without pathological reflexes. He had weakness and atrophy of the left supraspinatus, infraspinatus, deltoid and biceps brachii muscles and mild superficial sensory impairment in the left axillary nerve territory due to cervical spondylotic radiculopathy of the left C5 root. MRI of the brain demonstrated severe bilateral atrophy of the cerebellar hemispheres and vermis but minimal atrophy of the cerebrum and brainstem. Because surface electromyography revealed continuous discharge with phasic components in the biceps and wrist flexor muscles on extending the upper limbs, the jerky flexion movement of the forearm was considered to be primarily dystonia. Although no giant SEP was observed, a C-response was detected in the long-loop reflex in response to right median nerve stimulation. Nuclear examinations showed diffuse hypoperfusion and decreased glucose metabolism in the cerebellum. Based on these findings, we hypothesized that cerebellar dysfunction may have induced severe dystonic movement resembling myoclonus. We would like to name this complicated involuntary movement an "arm thrust". This is the first case to be reported of sporadic, chronic, progressive cerebellar ataxia accompanied by severe dystonic movement, especially on stretching the forearms, that mimics myoclonic movement.     

Isopropyl alcohol intoxication

Three patients had neurologic signs due to isopropyl alcohol (IPA) intoxication. Over a several-week period, a known alcoholic developed apathy, confusion, ataxia, and hyperreflexia. During this period, there was no ethanol available to him, and he denied use of other intoxicants. He was found stuporous in the hospital after drinking IPA and admitted to IPA abuse during the preceding weeks. Two other men were admitted in a stupor after large ingestions of IPA. Intoxication with IPA has two different presentations: stupor in a known alcoholic and encephalopathy of unknown cause in individuals who hide their addiction. Ethanol, methanol, IPA, and ethylene glycol intoxications are associated with different clinical and laboratory findings.     

Symptomatic myoclonus

A huge number of neurological disorders are associated with myoclonus. This paper describes these disorders whose diagnosis partly relies on the presence of myoclonus. The diagnostic approach is related to certain clinical features of myoclonus, which, after their integration in the clinical context, help orientate towards diagnosis. Myoclonus is frequent during dementia. Although its presence is well-known to take part in the diagnosis of Creutzfeldt-Jakob disease (CJD), myoclonus can also be present to a significant degree in Alzheimer's disease and Lewy body dementia (LBD), which raises a diagnostic issue. Both its clinical and electrophysiological features may help differential diagnosis, given that myoclonus with fast-evolving dementia and focal neurological signs should favor the diagnosis of CJD. Myoclonus in a context of progressive ataxia suggests one clinical form of the Ramsay-Hunt syndrome (progressive myoclonic ataxia, PMA), whose most frequent causes are: coeliac disease, mitochondriopathies, some spino-cerebellar degenerations, and some late metabolic disorders. In addition to ataxia and myoclonus, the presence of opsoclonus directs diagnosis toward the opsoclonus-myoclonus syndrome (OMS), whose origin, in adult, is idiopathic or paraneoplastic. Palatal tremor (myoclonus) with ataxia may represent either a sporadic pattern, which often reflects the evolution of degenerative or lesional disorders, or a familial pattern in some degenerative affections or metabolic diseases. Of more recent knowledge is the association of progressive ataxia, myoclonus, and renal failure, which corresponds to a recessive autosomic disease. In a context of encephalopathy, myoclonus is frequent in metabolic or hydro-electrolytic disorders, and in brain anoxia. One should distinguish these various forms of myoclonus which may occur in the acute post-anoxic phase, from those occurring as sequels at a later stage, i.e. the Lance and Adams syndrome whose clinical aspects are also multiple. Myoclonus is less frequent during toxic or drug exposures. Irrespective of its acute or insidious onset, Hashimoto's encephalopathy is accompanied by myoclonus and tremor. Myoclonus may also be present during encephalic and/or spinal infectious disorders. Myoclonus with focal neurological signs may be observed in thalamic lesions, responsible for unilateral asterixis or unilateral myoclonus superimposed on dystonic posture. Segmental spinal myoclonus or propriospinal myoclonus may be associated with several spinal-cord disorders. Myoclonus associated with peripheral nerve lesions is exceptional or even questionable for some of these.