Stimulant medication and postural orthostatic tachycardia syndrome: a tale of two cases

Stimulant medication may mimic the tachycardia of postural orthostatic tachycardia syndrome. Two case histories illustrate how missing the clinical distinction between a primary dysautonomia and a medication effect may have avoidable adverse consequences.     

Biogenic amines in 47, XYY syndrome

47, XYYs represent a high percentage of patients admitted in security settings for aggressiveness. By using a polygraphic technique and amine metabolite estimation in the cerebrospinal fluid (CSF), an attempt was made to evaluate the functional activity of the central aminergic system of these patients. No drastic change was observed in sleep patterns of XYYs. The estimation of CSF amine metabolites revealed a normal value for homovanillic acid, but a significant decrease of 5-hydroxyindoleacetic acid turnover.     

Serotoninergic dysfunction in the 47, XYY syndrome

In six XYY patients suffering from aggressiveness and admitted by order of law into a security setting for acts of violence, the estimation of cerebrospinal fluid amine metabolites before and after a probenecid test revealed a clear decrease in the turnover of central serotonin (5-HT) while that of dopamine (DA) was unchanged. The treatment with the 5-HT precursor, L-5-hydroxytryptophan (L-5-HTP), in five of the XYYs resulted in a clinical status equivalent to that observed when the patients were previously treated by conventional neuroleptics.     

Myotonic dystrophy associated with 47 XYY syndrome

A case of myotonic dystrophy with 47 XYY presented with tall stature and mental retardation. The patient was a 37-year-old male. In addition to grip myotonia and percussion myotonia, severe weakness and atrophy were noted in the face and the neck muscles and in the distal muscles of the four limbs. He also had diabetes mellitus, cataracts and sexual behavior abnormalities. He was found to be 47 XYY from chromosomal examinations. The combination of 47 XYY syndrome and myotonic dystrophy has not been reported previously.     

Dyke-Davidoff-Masson syndrome: a report of two cases

Dyke-Davidoff-Masson syndrome is a condition characterized by seizures, facial asymmetry, contralateral hemiplegia or hemiparesis and mental retardation. We report the clinical and imaging features in two patients with epilepsy revealing a Dyke-Davidoff-Masson syndrome. Brain MRI showed unilateral loss of cerebral volume with hypertrophy and hyperpneumatization of the paranasal sinuses and mastoid cells. Ipsilateral fronto-parietal polymicrogyria was present in one patient.     

脊髓灰质炎后综合征二例

目的探讨脊髓灰质炎后综合征(PPS)的临床表现及电生理特征,以利于该病的诊断水平。方法收集河北医科大学第二医院神经内科就诊的2例PPS患者的临床资料,分析该病的主要临床表现及电生理特点。结果例1患者7岁时患脊髓灰质炎,遗留右下肢短小。60年后出现缓慢进展的左下肢无力,肌肉萎缩;例2患者3岁时患脊髓灰质炎,遗留双下肢屈曲畸形,脊柱向右侧弯曲。47年后出现双上肢进行性无力,肌肉萎缩,疼痛,疲乏等表现,2例患者肌电图检查均以轻收缩时运动单位电位时限增宽及电位波幅增高为主,安静状态下自发电位少见。结论 PPS是脊髓灰质炎发病后,临床症状稳定多年后再次出现缓慢进展的迟缓性瘫痪,肌电图主要表现为慢性的神经再生过程。     

Bannwarth syndrome: report of two cases

Report of two cases of Bannwarth syndrome, an apparently neglected condition both in the Italian and in the English literature.     

Moyamoya disease in Down's syndrome: a report of two cases

The case of two children with Down's syndrome and multiple cerebral infarction on CT scan are described. Angiography revealed advanced moyamoya disease.     

Rett's syndrome - a neurodevelopmental disorder: report of two cases

Rett's syndrome (RS), a pervasive neurodevelopmental disorder, is being increasingly recognized all over the world, but there is paucity of reports from India. Due to its manifestations at any stage of development, it is important to arrive at a correct diagnosis. Two cases are presented, highlighting the need to recognize this relatively uncommon disorder and to differentiate it from various other neurodegenerative disorders.     

Posterior pusher syndrome: A report of two cases

“Pusher syndrome” is classically described as a disorder of body orientation in the coronal plane. Although it mainly occurs in stroke patients, non-stroke causes have been described. Pusher behaviour is characterized by a tilt towards the contralesional paretic side and a resistance to external attempts to rectify. It may occur with or without hemispatial neglect, which in itself may be the cause of a usually ipsilesional shift of attention and body orientation in the axial plane.     

复发性Fisher-Bickerstaff综合征2例临床分析

目的探讨复发性Fisher综合征(FS)叠加Bickerstaff脑干脑炎(BBE)的临床特点和疾病命名。方法分析2例复发性Fisher-Bickerstaff综合征的患者的临床资料,并复习相关文献。结果例1表现为复发性睡眠增多、走路不稳、视物成双,肌电图检查提示下肢神经源性损害;例2表现为复发性视物成双、走路不稳,第2次发病出现四肢无力,查体双下肢远端肌力3级,双侧Babinski征阳性,肌电图提示四肢神经源性损害;2例患者除具有眼肌麻痹和共济失调的症状外,都有中枢和周围神经受损的表现;依据患者的病史、查体、临床检测和疾病经过,诊断为复发性Fisher-Bickerstaff综合征,第2例患者叠加吉兰-巴雷综合征。结论具有周围神经损害的BBE和具有中枢神经损害的FS从临床表型上不能截然分开,Fisher-Bickerstaff综合征的概念更能准确地表述这类患者的表型特点。     

Electroclinical findings in four patients with karyotype 47,XYY

47,XYY karyotype is a Y chromosome aneuploidy characterized by an extra copy of the Y chromosome in each of the male cells, with an incidence of 1/1000 males. Most studies about 47,XYY have focused on growth, cognitive development, academic performance, behavioural problems, speech and language skills and neuromuscular status. Up-to-date reports on seizures and EEG characteristics concerning 47,XYY men have been sporadic and poorly detailed. The aim of this study is to describe the particular electroclinical patterns in a group of four subjects with 47,XYY karyotype. We performed neurological examinations, psychometric tests, brain MRIs, prolonged EEG recordings during awake and sleep on four unselected males 47,XYY. All four patients presented various degrees of neuropsychological impairment. An incidence of familial antecedents for epilepsy was confirmed by three families. When present, seizures were very similar to that of benign epilepsy with central-temporal spikes, (BECTS), for age of onset, clinical picture, evolution and good response to antiepileptic drugs. EEG recordings in all four subjects showed normal background activity and sleep organization, particular focal spikes and sharp-waves localized mostly over the vertex and/or central-temporal regions, which increased during sleep. In our opinion, these 47,XYY patients present a particular electroclinical pattern.     

Meige综合征临床误诊二例

Meige综合征属锥体外系的一种少见疾病,在1910年首先由法国神经病学家Meige描述,典型特征是眼睑痉挛及口-下颌肌肉不自主运动等.临床上常被误诊为面肌痉挛、神经官能症、重症肌无力等.为引起同道的高度重视,现将2例误诊的病历报道如下.     

Oculocerebrocutaneous (Delleman) syndrome: report of two cases

We describe two cases of oculocerebrocutaneous syndrome (OCCS) or Delleman syndrome, characterized by congenital anomalies that involve the skin, orbit, and central nervous system (CNS). Complete MRI studies of the orbit, CNS and the entire spinal region must be performed in these cases. New MRI techniques can show cortical malformations, such as polymicrogyria, lissencephaly, or abnormal disposition of cortical sulci and gyri. Lesions can be bilateral or unilateral, as occurred in our patients. In one case, the ocular, skin, cerebral, and cerebellar lesions involved mainly the same side, whereas in the second case, all anomalies were generalized and the patient also showed skin hypopigmented lesions distributed bilaterally. Both patients show severe encephalopathy and Dandy-Walker malformation. One case is blind and shows generalized hydrocephalus, and the other one has vision through an eye, and has complete agenesis of the corpus callosum and severe disorder of neuronal migration and cortical organization with polymicrogyria and abnormal cortical sulci and gyri in a cerebral hemisphere. Our second case shows arachnoid cysts in both temporal, retrocerebellar, and spinal (D(8)-D(11)) regions, and lipoma in the pontomedullary and spinal (D(4)-D(7)) regions. The latter features correspond more to ECCL than to OCCS. The overlap between the two syndromes is unquestionable and it is possible that they constitute different manifestations of the same disorder.