A family of hereditary neuropathy with liability to pressure palsies with a proband who developed right and left foot drop successively following the left radial nerve palsy

A 41-year-old man developed multifocal mononeuropathies manifesting right and left foot drop successively, following the left radial nerve palsy as an initial symptom. Based on the neurological findings and the results of the genetic study of peripheral myelin protein (PMP) 22 gene and the histological study of the sural nerve on biopsy, the diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) was made. Two asymptomatic carriers were found among his family members based on the genetic study. The diagnosis of HNPP can be definitely established by the genetic study and this disease is relatively rare. In this report it is important to note that there are a few patients who show radial nerve palsy as an initial symptom, that we should carefully study the family members to obtain the prevalence of HNPP because asymptomatic carriers may be present, and that the carriers should be advised to avoid strenuous exercises and works which may produce excessive extension or compression of nerve trunks with the subsequent development of clinical symptoms.     

Facial paresis in children; consider Lyme disease]

Three girls, aged 3, 7 and 13 years, developed acute peripheral facial palsy. The first patient was initially diagnosed as having Bell's palsy. The third patient had negative serology at first assessment, on the basis of which the diagnosis of Lyme disease was temporarily rejected. Ultimately, all three appeared to have neuroborreliosis. They were treated with intravenous ceftriaxone and recovered well. Facial palsy in childhood is frequently caused by Lyme borreliosis and infection with Borrelia burgdorferi should therefore be investigated, even if there are no signs of a tick bite or erythema migrans. Diagnosis is made by serology, followed by immunoblotting to confirm a positive result. In case of strong suspicion based on the patient's history or physical examination or a positive serology, lumbar puncture should be carried out. Antibiotic treatment facilitates recovery and prevents complications.     

Facial nerve palsy after acute exposure to dichloromethane

BACKGROUND: Dichloromethane poisoning affects predominantly the central nervous and the cardiovascular systems, and results from both carboxyhemoglobin formation and direct solvent-related narcosis. Exposure is frequently occupational and related to paint-stripping. Several reports have described severe adverse effects as well as fatalities. Conflicting reports regarding peripheral nerve toxicity have been found with no reports of clinical acute toxicity heretofore. METHODS: We present a case report of a patient who developed a facial nerve palsy after acute occupational exposure to Dichloromethane. The patient was part of a paint removing crew who have worked without proper protecting measures and were thus exposed to high levels of Dichoromethane. RESULTS: The patient was involved in paint stripping with Dichloromethane, and developed facial nerve palsy. Other known causes of facial palsy were excluded, and although idiopathic palsy cannot be ruled out, there were no corroborating findings. Carboxyhemoglobin levels taken after a significant delay were normal. CONCLUSION: This is the first article that describes a case of Facial Nerve Palsy related to acute dichloromethane exposure, indicating a possible peripheral neurotoxic effect of this solvent.     

Ramsay Hunt syndrome

Ramsay Hunt syndrome is a special form of herpes zoster which is typically characterized by peripheral facial palsy and unilateral herpetic vesicles on the ear. These symptoms are often accompanied by vestibulocochlear dysfunction and other neurological and ophthalmological symptoms. The diagnosis and therapy requires a multidisciplinary approach. The authors present a typical case where the early administration of combined antiviral and systemic corticosteroid therapy led to complete recovery. The authors emphasize the importance of early diagnosis and adequate combination therapy, which improves the prognosis of this disease.     

河南省致死性家族性失眠症家系的流行病学调查及遗传规律研究

目的 调查致死性家族性失眠症(FFI)家系谱特征及家族发病史;分析病例的临床特点和病理学改变;研究FFI家系的流行病学特征及相关基因遗传规律.方法 通过7代135名家族成员的流行病学调查,了解家族史、家族迁徙史及发病史;对患者及部分家族成员抽取静脉血进行PRNP基因PCR扩增,序列测定和Nsp I酶切鉴定;尸检采集脑组织进行神经病理学检测和Western blot法PrPCc蛋白检测.结果 2例确诊患者临床症状典型;11名家族成员死于相似的神经性疾病;32名家族成员血标本检测,其中11人出现PRNP基因178位密码子点突变(D178N),突变检出率34.38%,第129位密码子为甲硫氨酸;病例脑组织海绵样变性和神经元缺失,可检测到PrPSc蛋白.结论 该家系为FFI家系,病例临床症状典型,病理特征明显.流行病学调查、基因特征分析、神经病理学和Westernblot法检测对确立FFI病例和家系有至关重要的作用.     

The impact of truncation and missing family links in population-based registers on familial risk estimates

Family history information is often incomplete in population-based disease registers because of truncation and/or missing family links. In this study, the authors simulated complete populations of related individuals with realistic age, family structure, and incidence rates. After mimicking the realities of register-based data, such as left truncation of family history and missing family links due to death, the authors explored recovery of familial association parameters from standard epidemiologic models. Truncation of family history produced almost no bias for a familial risk of 2 and 50 years of follow-up, but it had a dramatic impact when the familial risk was 10. The age distribution of disease and the magnitude of background incidence rates also affected family history loss and thus the magnitude of bias. One can safeguard against bias by starting follow-up later, with the number of registration years to be ignored in the analysis depending on the value of familial risk. The missing familial links due to death had no effect, except when there was differential mortality for cases with and without a family history of disease. In summary, truncation, and to a lesser extent missing family links, induces bias in familial risk estimates from population-based registers.     

Familial hemiplegic migraine resulting in recurrent coma

A 71-year-old woman presented with recurrent episodes of headache accompanied by hemihypoesthesia, fever, aphasia, reduced consciousness and worsening of pre-existing ataxia. Brain imaging revealed atrophy of the cerebellum. The white cell count in the cerebrospinal fluid was slightly increased. The patient had a family history of migraine and cerebellar ataxia. DNA testing revealed a missense mutation in the CACNA1A gene, confirming the diagnosis of familial hemiplegic migraine. Familial hemiplegic migraine is a rare subtype of migraine with aura. It follows an autosomal dominant pattern of inheritance. Patients with familial hemiplegic migraine exhibit a wide spectrum of symptoms, which can hinder the diagnosis. If a patient presents with recurrent coma or encephalitis with or without cerebellar ataxia, familial hemiplegic migraine should be included in the differential diagnosis.     

Neuroborreliosis in the South West of England

Although Lyme borreliosis is increasingly diagnosed in the United Kingdom, few systematic studies have been performed there. UK data suggest that the commonest complications are neurological, but inadequate information exists about their nature and the incidence of late neuroborreliosis. Local data are necessary because clinical presentations may show geographical variation. This study aimed to provide data on clinical manifestations in an area of South West England and to estimate treatment delay. We reviewed clinical records of 88 patients in the Royal Devon and Exeter Hospital catchment area who had positive Borrelia antibody tests during a 5-year period. Fifty-six (64%) reported tick bites. The commonest presentations were erythema migrans (65%) and arthralgia/myalgia (27%). However, 22 patients (25%) had neurological symptoms other than headache alone. Fourteen had facial palsy, eight had confusion/drowsiness, four had meningism, five had radiculopathy, two had sixth nerve palsies, and two had peripheral neuropathies. No late, progressive or atypical neurological syndromes were found. Neurological manifestations were generally predictable and usually included either (or all) of meningoencephalitis, facial palsy or radiculopathy.     

A型肉毒毒素用于口角歪斜和鼻唇沟不对称的研究

目的在面瘫患者健侧部分面肌中注射A型肉毒毒素用以矫正口角歪斜和不对称的鼻唇沟,以满足美容的需要。方法将2001年1月￣2005年12月来在门诊和住院的部分面瘫患者作为观察对象,除对照组外治疗组分别在健侧面肌中注射A型肉毒毒素,依据注射剂量随机分为5个治疗组:A组(各肌注射1.25U)、B组(各肌注射2.50U)、C组(各肌注射5.00U)、D组(降、提口角肌和颧大、小肌各注射2.50U,笑肌注射5.00U)和E组(降、提口角肌和颧大、小肌各注射5.00U,笑肌注射2.50U),3d后定期观测每例患者双侧口角到门齿中缝的距离差。结果除A组外,各治疗组的口角歪斜和鼻唇沟不对称均得到不同程度的纠正,注射剂量越大起效越快,持续时间越长,但表情动作受到的影响也略大。结论根据口角歪斜和鼻唇沟不对称的程度,在健侧面肌注射相应剂量的A型肉毒毒素,既可以较好地纠正面瘫患者的口角歪斜和鼻唇沟的不对称,又可以避免并发症的发生。     

儿童色素沉着息肉综合征及文献复习

目的:对3例以腹痛、贫血、便血、肠梗阻为首诊的儿童少见疾病进行确诊。方法:根据患儿家族史、临床观察、肠镜、X线检查、病理检查、手术确诊。结果:儿童色素沉着息肉综合征常以贫血、腹痛、便血、肠梗阻等为主要表现。可有遗传性,可散发。常伴恶性病变。结论:应提高对儿童色素沉着息肉综合征的认识,以利早期诊断,恰当治疗、随访。     

Melkersson-Rosenthal syndrome. Report of five cases and review of the literature

The goal of this work is to report five cases of Melkersson-Rosenthal syndrom with a literature review. It is a rare entity and is characterized in its complete presentation, by the association of reccurent orofacial swelling, peripheral facial palsy and plicated tongue. Incomplete forms are more frequent and more difficult to establish its diagnosis. This latter is based on major and minor clinical and histological critieria sorted in three levels. There is four forms of MRS. The pathogenesis of this syndrome is still unknown; treatment remains random. It is based on topical or systemic steroids with or without cheiloplastic procedure. We must think of MRS in presence of any recurrent peripheral facial palsy and/or chronic facial swelling.     

Progressive supranuclear palsy; an unusual form of parkinsonism

Progressive supranuclear palsy is a neurodegenerative disorder accompanied by parkinsonism, disturbances of eye movements, pseudobulbar palsy and often cognitive decline. Onset of disease is usually between 50-70 years of age and mean survival is 5-8 years. The prevalence of PSP has been estimated at around 5 per 100,000, although exact figures for the population of the Netherlands are not yet available. International consensus criteria differentiate between possible, probable and definite PSP; the latter requiring neuropathological confirmation. An extensive differential diagnosis may be made early in the course of the disease, but at a later stage development of the characteristic symptoms will make diagnosis easier. Imaging techniques can lend support to the clinical diagnosis to a limited extent, although they lack sufficient specificity to confirm it. PSP is a 'tauopathy' characterized by aggregates of abnormal tau protein in the basal ganglia and brainstem. Some mutations in the tau gene can cause a clinical and pathological picture similar to that of PSP, although most patients with sporadic and familial PSP do not have tau mutations. Various studies have found a strong association between PSP and a specific tau haplotype (H1 haplotype), but its role in the pathophysiological mechanism of PSP is still unclear and needs further research.     

High familial risks for cerebral palsy implicate partial heritable aetiology

Cerebral palsy is the commonest cause of severe childhood disability, the aetiology of which is largely unknown. Data on familial aggregation of cerebral palsy are very limited. We defined familial risks for siblings who were hospitalised because of cerebral palsy in Sweden. A nationwide database for neurological diseases was constructed by linking the Multigeneration Register to the Hospital Discharge Register for the years 1987-2001. Standardised hospitalisation ratios (SHRs) were calculated for affected singletons and twins by comparing them with siblings who had no cerebral palsy. A total of 3997 patients were recorded with cerebral palsy. Familial cerebral palsy was uncommon, and it accounted for 1.6% of all cerebral palsy cases. However, for parents who had had one affected child the risk of recurrence in another child was considerably increased. Parents of one affected child had a 4.8-fold risk of having a second affected child, and where the siblings were twins, the risk was 29-fold. These familial risks were particularly high in some clinical subgroups: 17-25 in singletons and 37-155 in twins, including hemiplegia, diplegia and quadriplegia. The remarkably high familial risks are difficult to explain without some contribution of heritable factors. The lack of discordant pairs may suggest that heritable factors are disorder type-specific. Affected concordant sibling pairs should be subjected to molecular studies aiming at identifying the susceptibility gene.     

Peripheral facial palsy in children: test for lyme borreliosis only in the presence of other clinical signs

Peripheral facial palsy (PFP) may be the only sign of Lyme borreliosis in children. A literature study prompted by three children with PFP showed that a positive test for Borrelia burgdorferi antibodies in the blood or cerebrospinal fluid in combination with pleocytosis in the cerebrospinal fluid makes a diagnosis of Lyme borreliosis extremely probable. At least half of the children with PFP as a result of Lyme borreliosis show other signs or symptoms suggesting this disease. No data are available on the prevalence of Lyme borreliosis among children with PFP in the Netherlands; in adults, however, the prevalence is very low. Therefore, assuming a similar low prevalence in children with PFP, the predictive value of serological testing in children may be limited, in which case serological screening is not useful. Moreover, treatment with antibiotics does not seem to improve the prognosis of PFP significantly. Based on these data, serological testing and lumbar puncture is justified only in children with PFP associated with other signs or symptoms of Lyme borreliosis, such as bilaterality of the PFP, signs of meningeal irritation, a recent history of erythema migrans, arthritis or a recent tick bite.     

Unique Clinical,Immune, and Genetic Signature in Patients with Borrelial Meningoradiculoneuritis

Lyme neuroborreliosis (LNB) in Europe may manifest with painful meningoradiculoneuritis (also known as Bannwarth syndrome) or lymphocytic meningitis with or without cranial neuritis (peripheral facial palsy). We assessed host immune responses and the prevalence of TLR1 (toll-like receptor 1)–1805GG polymorphism to gain insights into the pathophysiology of these conditions. Regardless of LNB manifestation, most mediators associated with innate and adaptive immune responses were concentrated in cerebrospinal fluid; serum levels were unremarkable. When stratified by specific clinical manifestation, patients with meningoradiculoneuritis had higher levels of B-cell chemoattractants CXC motif chemokine ligand (CXCL) 12 and CXCL13 and T-cell–associated mediators CXCL9, CXCL10, and interleukin 17, compared with those without radicular pain. Moreover, these patients had a higher frequency of TLR1–1805GG polymorphism and more constitutional symptoms. These findings demonstrate that meningoradiculoneuritis is a distinct clinical entity with unique immune and genetic pathophysiology, providing new considerations for the study of LNB and borrelial meningoradiculitis.     

Arguments against the pharmacotherapy of Bells' palsy

Bell's palsy is the most frequent type of peripheral facial paresis. Its cause is unknown. The prognosis is good in 85% of patients. Based on theories about its pathogenesis, antivirals and corticosteroids have been tried. In 6 studies with antivirals and 9 with corticosteroids (most ofthe studies were methodologically flawed), the efficacy of these treatments was not demonstrated.     

Familial risks for nerve, nerve root and plexus disorders in siblings based on hospitalisations in Sweden

BACKGROUND: Nerve, nerve root and plexus disorders are common diseases, but little is known about familial clustering in these diseases. This is, to our knowledge, the first systematic family study carried out on these diseases. METHODS: Familial risks for siblings who were hospitalised for nerve, nerve root and plexus disorders in Sweden were defined. A nationwide database for neurological diseases was constructed by linking the Multigeneration Register on 0-69-year-old siblings to the Hospital Discharge Register covering the years 1987-2001. Standardised risk ratios (SIRs) were calculated for affected sibling pairs by comparing them with those whose siblings had no neurological disease. RESULTS: 29,686 patients, 43% men and 57% women, were diagnosed at a mean age of 37.5 years. 191 siblings were hospitalised for these disorders, giving an overall SIR of 2.59 (95% CI 1.58 to 4.22), with no sex difference. Plantar nerve mononeuritis and carpal tunnel syndrome showed the highest familial risks: 4.82 (1.08 to 16.04) and 4.08 (2.07 to 7.84), respectively. Lateral poplitean and plantar nerve neuritis preferentially affected women, with SIRs of >8; disorders of the other cranial nerves affected only men, with an SIR of >10. Concordant trigeminal neuralgia, Bell's palsy and carpal tunnel syndrome showed familial risks, but, with the exception of Bell's palsy, they also showed correlation between spouses, implying environmental sharing of risk factors. CONCLUSIONS: The results cannot distinguish between inheritable or shared environmental factors, or their interactions, but they clearly show familial clustering, suggestive of multifactorial aetiology and inviting for aetiological research.     

Chest pain in anorexia nervosa

OBJECTIVE: To determine the incidence and characteristics of chest pain in patients with anorexia nervosa. METHOD: A cross-sectional survey of 54 patients. A pain history according to a diagnostic algorithm that was constructed from a Medline search (1966-1996) was used. RESULTS: Eighty-seven percent of patients had experienced chest pain. The most common diagnosis was idiopathic, occurring in 38% of participants. The incidence of typical and atypical angina was 11% and 9%, respectively. Increasing age, smoking history, and a family history of chest pain were more common in those with the atypical or typical angina. CONCLUSIONS: Chest pain is a common symptom in patients with eating disorders, and the incidence of typical and atypical angina is surprisingly high. All patients with eating disorders should be screened for chest pain and other risk factors for coronary heart disease.     

Multiple chemical sensitivity and idiopathic environmental intolerance (part one)

Multiple chemical sensitivity/idiopathic environmental intolerance (MCS/IEI) is a commonly used diagnostic term for a group of symptoms. These symptoms have been described and commented on for more than 15 years in the USA. Recently, it has also been observed in Japan. The main features of this syndrome are multiple symptoms involving in multiple organ systems that are precipitated by a variety of chemical substances with relapses and exacerbation under certain conditions when exposed to very low levels which do not affect the population at large. There are no laboratory markers or specific investigative findings. Although traditional medical organizations have not agreed on a definition for this syndrome due to the lack of obvious evidence to demonstrate the existence of these symptoms, it is being increasingly recognized. It constitutes an increasing percentage of the caseload at occupational/environmental medical clinics. Part one of this review article discusses pathophysiological theories, substances which cause symptoms, prevalence in the general and specific populations, past history and family history, and clinical symptoms of MCS/IEI patients.