scholarly journals Peripheral Nervous System Involvement in Late-Onset Cobalamin C Disease?

2020 ◽  
Vol 11 ◽  
Author(s):  
Xujun Chu ◽  
Lingchao Meng ◽  
Wei Zhang ◽  
Jinjun Luo ◽  
Zhaoxia Wang ◽  
...  
Keyword(s):  
Nervous System ◽  
Peripheral Nervous System ◽  
Methylenetetrahydrofolate Reductase ◽  
Late Onset ◽  
Hot Spot ◽  
Axonal Neuropathy ◽  
Methylmalonic Aciduria ◽  
Lower Limbs ◽  
Compound Heterozygous ◽  
Limb Weakness

Background: Cobalamin C (cblC) has a fundamental role in both central and peripheral nervous system function at any age. Neurologic manifestations may be the earliest and often the only manifestation of hereditary or acquired cblC defect. Peripheral neuropathy remains a classical but underdiagnosed complication of cblC defect, especially in late-onset cblC disease caused by mutations in the methylmalonic aciduria type C and homocysteinemia (MMACHC) gene. So the clinical, electrophysiological, and pathological characteristics of late-onset cblC disease are not well-known.Methods: A retrospective study of patients with late-onset cblC disease was conducted at our hospital on a 3-year period. The neuropathy was confirmed by the nerve conduction study. Sural biopsies were performed in 2 patients.Results: Eight patients were identified, with a mean onset age of 16.25 ± 6.07 years. All patients had methylmalonic aciduria, homocysteinemia, compound heterozygous MMACHC gene mutations were detected in all patients, and 7/8 patients with c.482G>A mutation. One patient concomitant with homozygote c.665C>T mutation in 5,10-methylenetetrahydrofolate reductase (MTHFR) gene. All patients showed limb weakness and cognitive impairment. Five patients had possible sensorimotor axonal polyneuropathy predominantly in the distal lower limbs. Sural biopsies showed loss of myelinated and unmyelinated fibers. Electro microscopy revealed crystalline-like inclusions bodies in Schwann cells and axonal degeneration.Conclusion: Late-onset cblC disease had possible heterogeneous group of distal axonal neuropathy. c.482G>A mutation is a hot spot mutation in late-onset cblC disease.

Myasthenia Gravis and Hypothyroidism in a Dog With Meningomyelitis

2005 ◽  
Vol 41 (4) ◽  
pp. 247-251 ◽  
Author(s):  
Jonathan M. Levine ◽  
Robert L. Bergman ◽  
Joan R. Coates ◽  
G. Diane Shelton
Keyword(s):  
Nervous System ◽  
Myasthenia Gravis ◽  
Peripheral Nervous System ◽  
Neurological Assessment ◽  
Limb Weakness ◽  
History Of ◽  
Pelvic Limb

A 12-year-old, spayed female miniature poodle was evaluated because of a 4-day history of paraparesis, dysuria, and tenesmus. Neurological assessment suggested peripheral nervous system dysfunction, predominantly pelvic limb weakness with a possible concurrent sixth lumbar (L6) to second sacral (S2) myelopathy. Further studies supported the diagnoses of myasthenia gravis, hypothyroidism, and meningomyelitis. To the authors’ knowledge, this is the first reported case of concurrent myasthenia gravis and meningomyelitis in the dog. It was unclear whether the identified conditions evolved from a shared etiopathogenesis or were merely coincidental.

scholarly journals Syringomyelia Developing as an Acute Complication of Tuberculous Meningitis

1997 ◽  
Vol 24 (1) ◽  
pp. 73-76 ◽  
Author(s):  
Abdu Kader Daif ◽  
Al Rajeh ◽  
Adesola Ogunniy ◽  
Amer Al Boukai ◽  
Abdulrahman Al Tahan
Keyword(s):  
Nervous System ◽  
Tuberculous Meningitis ◽  
Early Onset ◽  
Late Onset ◽  
Acute Onset ◽  
Limb Weakness ◽  
Inflammatory Edema ◽  
Underlying Mechanisms ◽  
Tuberculosis Meningitis ◽  
Uncommon Complication

ABSTRACT:Background:Tuberculosis of the nervous system has protean manifestations. Syringomyelia, though an uncommon complication of it, is usually of late onset.Methods:We report two patients with tuberculosis meningitis who developed syringomyelia acutely. The diagnosis was supported by neuroimaging and findings at laminectomy.Results:The two patients developed syringomyelia between 11 days and 6 weeks of the onset of tuberculous meningitis. They both had cord swelling and softeningConclusions:Acute-onset syringomyelia should be suspected in any patient being treated for tuberculosis meningitis who subsequently develops limb weakness and/or sphincteric dysfunction. Inflammatory edema and cord ischemia appeared to be the underlying mechanisms in these early onset cases rather than arachnoiditis which is important in late-onset cases.

scholarly journals A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine

Neurology ◽  
2018 ◽  
Vol 91 (4) ◽  
pp. e339-e348 ◽  
Author(s):  
Macarena Cabrera-Serrano ◽  
Fabiola Mavillard ◽  
Valerie Biancalana ◽  
Eloy Rivas ◽  
Bharti Morar ◽  
...  
Keyword(s):  
Neuromuscular Disease ◽  
Haplotype Analysis ◽  
Founder Mutation ◽  
Late Onset ◽  
Compound Heterozygous ◽  
Centronuclear Myopathy ◽  
Limb Weakness ◽  
Roma Population ◽  
Paravertebral Muscles ◽  
Genetic Features

ObjectiveTo describe a large series of BIN1 patients, in which a novel founder mutation in the Roma population of southern Spain has been identified.MethodsPatients diagnosed with centronuclear myopathy (CNM) at 5 major reference centers for neuromuscular disease in Spain (n = 53) were screened for BIN1 mutations. Clinical, histologic, radiologic, and genetic features were analyzed.ResultsEighteen patients from 13 families carried the p.Arg234Cys variant; 16 of them were homozygous for it and 2 had compound heterozygous p.Arg234Cys/p.Arg145Cys mutations. Both BIN1 variants have only been identified in Roma, causing 100% of CNM in this ethnic group in our cohort. The haplotype analysis confirmed all families are related. In addition to clinical features typical of CNM, such as proximal limb weakness and ophthalmoplegia, most patients in our cohort presented with prominent axial weakness, often associated with rigid spine. Severe fat replacement of paravertebral muscles was demonstrated by muscle imaging. This phenotype seems to be specific to the p.Arg234Cys mutation, not reported in other BIN1 mutations. Extreme clinical variability was observed in the 2 compound heterozygous patients for the p.Arg234Cys/p.Arg145Cys mutations, from a congenital onset with catastrophic outcome to a late-onset disease. Screening of European Roma controls (n = 758) for the p.Arg234Cys variant identified a carrier frequency of 3.5% among the Spanish Roma.ConclusionWe have identified a BIN1 founder Roma mutation associated with a highly specific phenotype, which is, from the present cohort, the main cause of CNM in Spain.

Giant axonal neuropathy: A clinical entity affecting the central as well as the peripheral nervous system

Neurology ◽  
1975 ◽  
Vol 25 (8) ◽  
pp. 717-717 ◽  
Author(s):  
H. IGISU ◽  
M. OHTA ◽  
T. TABIRA ◽  
S. HOSOKAWA ◽  
I. GOTO ◽  
...  
Keyword(s):  
Nervous System ◽  
Peripheral Nervous System ◽  
Axonal Neuropathy ◽  
Clinical Entity ◽  
Giant Axonal Neuropathy

scholarly journals Botulinum Toxin Treatment for Painful Diabetic Neuropathy A Review

2019 ◽  
pp. 01-04
Author(s):  
Bahman Jabbari ◽  
Yasaman Safarpour
Keyword(s):  
Nervous System ◽  
Neuropathic Pain ◽  
Diabetic Neuropathy ◽  
Late Onset ◽  
Lower Limbs ◽  
Type I ◽  
Type Ii ◽  
Painful Diabetic Neuropathy ◽  
Onset Diabetes ◽  
Botulinum Toxin Treatment

Diabetic neuropathy (DN) is one of the most common peripheral nervous system disorders. It affects 16% of individuals with type I (young onset) diabetes and 25-26% of individuals with type II (late onset) diabetes [1]. Pain and numbness of the feet and, in advanced cases, weakness in the feet or hands are the usual symptoms. These symptoms are typically more prominent in the lower limbs. The skin in the affected areas is sensitive to touch (hyperesthesia); sometimes touch evokes pain (allodynia). The pain of diabetic neuropathy may develop spontaneously or may be provoked by touch or motion. Pain often interferes with patient’s rest and sleep and has typical characteristics of a neuropathic pain i.e having a sharp and burning quality. Dorsum of the foot and toes are most commonly affected in diabetic neuropathy. On examination, the patients demonstrate decreased sensations (heat, cold, touch, position) in the affected limb. Diabetic neuropathy (DN) is usually bilateral and presents in form of a polyneuropathy.

scholarly journals Late adult-onset Hereditary Sensory and Motor Neuropathy due to TECPR2 mutations

2020 ◽  
Vol 28 ◽  
pp. 1-6
Author(s):  
Paulo Victor Sgobbi de Souza ◽  
Bruno De Mattos Lombardi Badia ◽  
Eduardo Augusto Gonçalves ◽  
Roberta Ismael Lacerda Machado ◽  
José Marcos Vieira de Albuquerque Filho ◽  
...  
Keyword(s):  
Late Onset ◽  
Lower Limbs ◽  
Compound Heterozygous ◽  
Motor Neuropathy ◽  
Charcot Marie Tooth Disease ◽  
Pathogenic Variants ◽  
Brazilian Woman ◽  
Neurophysiological Studies ◽  
History Of ◽  
Tendon Reflexes

Objective: The description of a new genetic association with late-onset axonal Charcot-Marie-Tooth disease (CMT). Method. A 57-year-old Brazilian woman presented with a slowly progressive history of paresthesia, muscle wasting and weakness in her lower limbs since age 50 years. Examination disclosed peroneal amyotrophy, bilateral pes cavus, mild distal weakness, reduced vibration, pain and temperature sensation in the the lower limbs and brisk tendon reflexes. Results. Neurophysiological studies showed chronic sensorimotor axonal polyneuropathy. Whole-genome sequencing showed compound heterozygous pathogenic variants in the TECPR2 gene (14q32.31). Conclusion. This novel genetic presentation of late-onset axonal CMT with brisk tendon reflexes associated with TECPR2.

scholarly journals Peripheral nervous system manifestations of Shiga toxin-producing E. coli-induced haemolytic uremic syndrome in children

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Luisa Santangelo ◽  
Giuseppe Stefano Netti ◽  
Diletta Domenica Torres ◽  
Giovanni Piscopo ◽  
Vincenza Carbone ◽  
...  
Keyword(s):  
Nervous System ◽  
Peripheral Nervous System ◽  
Functional Recovery ◽  
Shiga Toxin ◽  
Rehabilitation Program ◽  
Lower Limbs ◽  
Motor Deficit ◽  
E Coli ◽  
Renal Complication ◽  
Uremic Syndrome

Abstract Background The Neurological involvement is the most common extra-renal complication of Shiga toxin-producing E. coli-hemolytic uremic syndrome (HUS) or typical HUS. On brain magnetic resonance examination, main neurological signs encompass acute lesions of the basal ganglia and the white matter, which could usually regress after Eculizumab infusion. In contrast, peripheral nervous system (PNS) manifestations in typical HUS are very rare and, when occurring, they require a careful management of neurological sequelae and an intensive multidisciplinary neuro-rehabilitation program. Case presentation Here, we present two pediatric cases of severe and complicated typical HUS with PNS manifestations who required therapeutic treatment and an intensive multidisciplinary neuro-rehabilitation program. In both cases, PNS manifestations were followed by the recovery from typical HUS-related severe central neurological damage and manifested mainly with marked bilateral motor deficit and hyporeflexia/areflexia in the lower limbs. The peripheral polyneuropathy was treated with immunosuppressive therapy (methylprednisolone boluses, i.v. immunoglobulins, plasma exchange), followed by a prolonged intensive neuro-rehabilitation program. After 8 months of rehabilitation, both patients gained complete functional recovery. Conclusions PNS manifestations during typical HUS are a rare event and potentially leading to severe disability. A timely clinical assessment is mandatory to set up a prompt therapeutic and rehabilitation program and to obtain a complete clinical and functional recovery.

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