Cockayne syndrome: report of two siblings and review of literature in Japan

Typical Cockayne syndrome was seen in a boy and his younger sister and these two cases are reported here, and reported cases of the syndrome in Japan are summarized. Both cases (an 11-year-old boy and a 7-year-old girl) had dwarfism, a senile face, retinitis pigmentosa, photosensitivity, and mental retardation. Calcium deposition in the basal ganglia was seen by CT scan. In both cases nerve conduction velocities were reduced suggesting peripheral neuropathy, but segmental demyelination on sural nerve biopsy was not demonstrated. Twenty seven cases of the syndrome has now been reported in Japan in 21 families (including the above two cases), consisting of 14 males and 12 females (the sex of one case was unknown): consanguineous marriage was confirmed in 14 families. Eleven cases in five families were siblings. The estimated ages of onset were from 1 month to 3 years, and in most cases photosensitivity was the initial symptom. Clinical manifestations were mental retardation in 25 cases (93%), dwarfism in 24 cases (89%), photosensitivity in 23 cases (85%), articular contracture in 22 cases (81%), sunken eyes in 20 cases (74%), retinitis pigmentosa in 17 cases (63%), deafness in 16 cases (59%), and intracranial calcification in 14 cases (51%). Intracranial calcification will be more often detected in future following the development of CT scanning.     

Peripheral neuropathy in CADASIL

Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a hereditary cerebral microangiopathy associated with mutations in the Notch 3 gene. The clinical phenotype is characterized by cerebral impairment even though typical microvascular changes are diffuse. Objective To assess peripheral neuropathy in patients with CADASIL. Patients and Methods We enrolled eleven CADASIL patients with variable phenotype including clinical signs of peripheral nerve involvement. In all patients electromyography and nerve conduction velocities were performed. Peripheral nerve biopsy was performed in three cases. Results We found sensory motor neuropathy in 7/11 patients. Nerve biopsy revealed axonal and demyelinated findings. Conclusion Our findings suggest that peripheral neuropathy may be part of the CADASIL phenotype.     

Peripheral nerves in Fisher''s syndrome

A case is presented of a 33-year-old male with ophthalmoplegia, ataxia and areflexia followed by complete recovery. There was no clinical evidence of motor weakness or sensory disturbances in the limbs. Electromyography and nerve conduction studies were normal. Sural nerve biopsy during the sixth week of illness revealed no abnormalities.     

多发性硬化脊髓型合并周围神经病变

目的：评价多发性硬化（MS）脊髓型的临床特征,脊髓磁共振成像（MRI）,神经电生理检查和腓肠神经活检的诊断价值。方法：分析14例MS脊髓型临床表现,脊髓MRI,神经电生理和腓神经活组织病理检查。结果：其临床表现为两侧肢体不对称性运动和感觉障碍的脊髓内部损害,可伴有发作性症状,有缓解和复发,脊髓MRI可以明确脱髓鞘部位,表现髓内纵行条带状或斑片状长T1长T2信号,脊髓略增粗,诱发电位有极高的敏感性,肌电图和腓肠神经病理提示周围神经脱髓鞘改变。结论：MRI、神经电生理检查及周围神经活检对MS脊髓型的早期诊断和治疗起重要作用。     

Demyelinating Peripheral Neuropathy in Devic Disease

Abstract: This is a report of a 20-year-old man with typical features of Devic disease (neuromyelitis optica) associated with demyelinating peripheral neuropathy. A sural nerve biopsy showed markedly decreased myelinated fibers of a large diameter. Teased fiber preparations showed segmental remyelination in 50% of examined fibers, as well as a few demyelination. Demyelination of bilateral optic nerves, spinal cord, and peripheral nerves at the same time suggests a possibility of common pathogenetic mechanisms in both the central and peripheral nervous systems.     

Peripheral neuropathy in Marinesco-Sjögren syndrome

A case of Marinesco-Sj?gren syndrome manifesting cataract, short stature, psychomotor retardation, hypogonadism, and progressive ataxia was described. The result of electrophysiological study reflected the presence of peripheral nerve involvement, which was clearly confirmed by sural nerve biopsy. The conspicuous abnormality observed in the peripheral nerve was the presence of segmental demyelination. The process of axonal degeneration was not remarkable. Results confirmed that Marinesco-Sj?gren syndrome is a disorder which may involve both central and peripheral nervous system.     

Peripheral neuropathy in the Chediak-Higashi syndrome

Summary The clinical features of a brother and sister with the Chediak-Higashi syndrome (CHS) are reported. Both showed evidence of a sensory neuropathy associated with central nervous system involvement. Nerve conduction studies indicated an axonal neuropathy. Sural nerve biopsy in the brother demonstrated a loss of myelinated nerve fibres, particularly those of larger size, and of unmyelinated axons. In contradistinction to some previous reports, giant lysosomes in Schwann cells were not observed and there were no inflammatory changes. Electron microscopy and teased-fibre studies showed no evidence of demyelination. It is concluded that the neuropathy of CHS is of axonal type. Its mechanism remains obscure.Supported in part by grants from the Medical Research Council of Great Britain, Ciba-Geigy Ltd, Basel and the Central Research Fund of London University. Financial support was also received from Mr. Michael Holmes. V.P.M. is an Efamol Research fellow     

Sural neuropathy: etiologies and predisposing factors

Isolated sural neuropathy is an uncommon diagnosis. We identified 36 patients with isolated sural neuropathy. Sixteen had various forms of ankle trauma, in three of whom the associated sural neuropathies developed following medical intervention. Three patients developed sural neuropathy associated with vasculitis, and there were single patients with schwannoma and ganglionic cyst. In patients without a history of trauma, structural causes, such as schwannoma or ganglionic cysts and vasculitis, should be considered and managed as appropriate.     

Occupational neuropathy of the sural nerve

A 20-year-old carpet-layer with compression of the right sural nerve due to the peculiar posture maintained during his work is described, and electromyographic findings are presented.

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Sommario Il presente lavoro riporta i risultati ottenuti dallo studio elettromiografico eseguito su un posatore di “moquette” di 20 anni affetto da una compressione del nervo surale destro causata dalla peculiare postura mantenuta durante il lavoro.

     

Peripheral neuropathy in myotonic dystrophy type 1

Myotonic dystrophy 1 (DM1) is characterized by a wide range of clinical features. We aimed to verify the presence of peripheral nerve involvement in a large cohort of DM1 patients and to determine clinical consequences. A total of 93 patients underwent detailed neurological examination and nerve conduction studies. Additionally, balance impairment was assessed with the Berg Balance Scale and health status was evaluated with the SF-36 health survey. Sensory symptoms were not reported and mild sensory signs were found in six patients. Electrophysiological abnormalities consistent with a diagnosis of neuropathy were found in 16 patients (17%). Peripheral nerve involvement was significantly associated with decreased muscle strength (p = 0.001) and absence of Achilles-tendon reflexes (p = 0.003), but not with age or duration of neuromuscular symptoms. It had no significant effect on balance, mental or physical health. In conclusion, peripheral nerve involvement may be one of the multisystemic manifestations of DM1, but is usually subclinical. Other causes should be excluded when sensory symptoms or signs are severe.     

甲状腺功能亢进并发周围神经病(附一例报告并文献复习)

目的　探讨甲状腺功能亢进并发周围神经病的临床表现、发病机制、电生理 (EMG)和病理特点、治疗以及预后。方法　详细收集病史及体格检查资料并进行随访观察 ,动态观察甲状腺功能 ,对比肌电图检查结果 ,并电镜观察腓肠神经活检标本。结果　此例甲状腺功能亢进并发周围神经病表现为运动重于感觉、远端重于近端 ;肌电图提示运动感觉传导速度均减慢 ;神经活检证实同时有脱髓鞘和轴索变性。甲状腺功能亢进控制后肌无力明显改善 ,神经传导速度亦明显恢复。结论　甲状腺功能亢进可并发周围神经病 ,但较罕见 ,其机制可能为自身免疫和代谢异常 ,预后与甲状腺功能亢进控制情况密切相关     

Clinical utility of dorsal sural nerve conduction studies

A technique of testing sensory nerve conduction of the dorsal sural nerve in the foot was used in 38 normal subjects and 70 patients with peripheral neuropathies. The normal dorsal sural sensory nerve action potential (SNAP) had a mean amplitude of 8.9 microV (range 5-15 microV), mean latency to negative peak of 4.0 ms (range 3.2-4.7 ms), and mean conduction velocity of 34.8 m/s (range 30-44 m/s). Optimal placement of the recording electrodes to obtain a maximal nerve action potential was proximal to digits 4 and 5. Cooling to below 25 degrees C prolonged the latency but did not decrease the SNAP amplitude. Among the patients with peripheral neuropathy, dorsal sural SNAP was absent in 68 (97%), whereas only 54 (77%) showed abnormalities of sural sensory conduction. The diagnostic sensitivity of sensory nerve conduction studies in peripheral neuropathies may be significantly improved by the use of this technique for evaluating the action potential of the dorsal sural nerve.     

Myasthenia gravis associated with Charcot-Marie-Tooth neuropathy: report of a case

We report the case of a 24 year old woman who developed myasthenia gravis in the course of a mild form of Charcot-Marie-Tooth neuropathy. We describe the clinical manifestations together with the neurophysiological, pathological, serological findings and response to therapy and discuss the unusual association in the light of the relevant literature.

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Sommario Si riferisce di un caso di Miastenia Gravis in una donna di 24 anni affetta da una forma non invalidante di malattia di Charcot-Marie-Tooth. Vengono riportate le manifestazioni cliniche, i risultati elettrofisiologici, bioptici e sierologici, nonché l'approccio terapeutico utilizzato. Questa inusuale associazione viene discussa alla luce dei dati riportati in letteratura.

     

Porphyric neuropathies in an acute intermittent porphyria family

The objective of this study was to investigate two patients with porphyric neuropathy in a family with acute intermittent porphyria. Molecular analysis of the porphobilinogen deaminase (PBGD) gene was performed. We analyzed the clinical course of peripheral neuropathy and serial changes in nerve conduction studies (NCS) of the two patients. We also examined the pathological findings of sural nerve biopsy in one patient. Molecular analysis of the PBGD gene revealed a missense mutation (Arg26His) in exon 2 for two patients and their family members. Distal polyneuropathy was noted in the patients with chronic porphyric neuropathy. In the follow‐up NCS, recovery was relatively poor in the lower limb in one patient with severe polyneuropathy, and NCS evidence of deterioration was found following frequent hormone‐related porphyric attacks in another patient. The sural nerve biopsy showed marked loss of myelinated and unmyelinated fibers in one patient with chronic porphyric neuropathy. In contrast to radial and fibular motor nerves in acute porphyric neuropathy, the sural nerve is vulnerable to involvement in chronic porphyric neuropathy following repeated porphyric attack as seen in the NCS.     

Endoneurial edema in sural nerve may indicate recent onset inflammatory neuropathy

Introduction: Sural nerve biopsy is an important means of establishing the diagnosis of inflammatory neuropathies. We investigated the diagnostic value of endoneurial edema. Methods: Diagnostic sural nerve biopsies from 42 patients with inflammatory and 28 patients with noninflammatory neuropathies were re‐evaluated for the presence of endoneurial edema. Edema was assessed on hematoxylin‐eosin stained paraffin and frozen sections and on azure II‐methylene blue stained semithin sections. We determined the area of endoneurial edema on digitized images in relation to the entire endoneurial area of each fascicle. Results: Edema was more extensive in neuropathies with short disease duration (≤12 months) as compared to long duration (>12 months; P < 0.01). Edema in inflammatory neuropathies of ≤12 months duration covered a larger area than in noninflammatory neuropathies (P < 0.01), and the extent of edema correlated negatively with disease duration (P < 0.05). Conclusions: Endoneurial edema may be a useful additional disease marker in inflammatory neuropathies of recent onset. Muscle Nerve 53 : 705–710, 2016     

The additional yield of combined nerve/muscle biopsy in vasculitic neuropathy

Background: Vasculitic neuropathy can be confirmed by demonstrating vasculitis in a nerve biopsy, but it is uncertain to what extent combined (i.e. nerve/muscle) biopsy improves the yield. Methods: A random‐effects meta‐analysis was performed to assess the additional yield of combined biopsy in vasculitic neuropathy. Medline, Embase, LILACS and ISI were searched from January 1980 until January 2009 for relevant articles on the yield of nerve, muscle or combined biopsy to diagnose vasculitic neuropathy. Fourteen (15%) studies were included. Methodological quality was scored using a modified Quality Assessment for Diagnostic Accuracy Studies tool. Results: In patients clinically suspected of vasculitic neuropathy, the additional yield of definite vasculitis in combined biopsy was 5.1% (95% CI 1.1–9.2%; P = 0.013). In patients diagnosed with vasculitic neuropathy, the additional yield of definite vasculitis in combined biopsy was 15% (95% CI 2.1–28%; P = 0.023). Conclusions: There is a modest additional yield of definite vasculitis in combined biopsy compared to nerve biopsy alone. Because of methodological flaws in analysed studies, the findings should be validated in a prospective study.     

Median nerve ultrasound in diabetic peripheral neuropathy with and without carpal tunnel syndrome

Introduction: Median nerve ultrasound shows increased cross‐sectional area (CSA) in carpal tunnel syndrome (CTS) and diabetic peripheral neuropathy (PN). The role of ultrasound in diagnosing CTS superimposed on diabetic PN is unknown. The objective of this study is to evaluate ultrasound for diagnosis of CTS in diabetic PN. Methods: Prospective recruitment of diabetics with electrodiagnostically proven PN, subdivided into cases (with CTS) or controls (without CTS). The gold standard for CTS was clinical diagnosis. NCS were correlated with blinded median nerve CSA ultrasound measurements. Results: Eight cases (CTS) and eight controls (no CTS) were recruited. Nerve conduction studies (NCS): Median nerve distal latencies (antidromic sensory; palmar; lumbrical motor; and lumbrical motor to ulnar interosseous difference) were significantly prolonged in CTS cases. No ultrasound measurement (distal median CSA, wrist‐forearm ratio, wrist‐forearm difference) reached significance to detect CTS. Area under the curve was greatest for lumbrical distal latency by receiver operator characteristic analysis (0.85). Conclusions: In this pilot study, NCS may be superior to ultrasound for identification of superimposed CTS in diabetic PN patients, but larger numbers are needed for confirmation. Muscle Nerve 47: 437–439, 2013     

Vasculitic neuropathy: Comparison of clinical predictors with histopathological outcome

Introduction:To improve diagnostic accuracy, in this study we compared prebiopsy clinical parameters with subsequent pathological confirmation of peripheral nerve vasculitis. Methods: Clinical, laboratory, and neurophysiological parameters were analyzed for consecutive patients referred for nerve biopsy with suspected vasculitis. Patients were assigned pathological categories of definite, probable, possible, or absent vasculitis using validated guidelines. Patients with definite or probable vasculitis were considered to have pathologically confirmed vasculitis. Results: From a cohort of 78 patients, biopsy confirmed vasculitis in 29.5%. Parameters that best differentiated between pathologically confirmed and pathologically unlikely vasculitis were stepwise clinical progression (34.8% vs. 5.6%), the presence of serum anti-myeloperoxidase antibody (28.6% vs. 2.2%) and rheumatoid factor seropositivity (38.1% vs. 10.7%). Pathologically absent vasculitis was frequent in patients with normal (100%) or primarily demyelinating (87.5%) nerve conduction studies. Discussion: Factoring the negative predictors of pathologically confirmed vasculitis into decision-making can reduce the frequency of diagnostically unhelpful nerve biopsies. Muscle Nerve 59:643–649, 2019