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Congenital polyneuropathy

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https://www.readbyqxmd.com/read/29843966/cd59-deficiency-presenting-as-polyneuropathy-and-moyamoya-syndrome-with-endothelial-abnormalities-of-small-brain-vessels
#1
Christian Klemann, Janbernd Kirschner, Sandra Ammann, Horst Urbach, Olaf Moske-Eick, Barbara Zieger, Myriam Ricarda Lorenz, Klaus Schwarz, Soroush Doostkam, Stephan Ehl, Rudolf Korinthenberg
CD59 is involved in lymphocyte signal transduction and regulates complement-mediated cell lysis by inhibiting the membrane attack complex. In the cases reported so far, congenital isolated CD59 deficiency was associated with recurrent episodes of hemolytic anemia, peripheral neuropathy, and strokes. Here, we report on a patient from a consanguineous Turkish family, who had a first episode of hemolytic anemia at one month of age and presented at 14 months with acute Guillain-Barré syndrome (GBS). The child suffered repeated infection-triggered relapses leading to the diagnosis of chronic inflammatory demyelinating polyneuropathy (CIDP)...
April 13, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29761130/spinal-muscular-atrophy-with-respiratory-distress-type-1-a-child-with-atypical-presentation
#2
Annie Ting Gee Chiu, Sophelia Hoi Shan Chan, Shun Ping Wu, Shun Hin Ting, Brian Hon Yin Chung, Angel On Kei Chan, Virginia Chun Nei Wong
The authors report a child with spinal muscular atrophy with respiratory distress type 1 (SMARD1). She presented atypically with hypothyroidism and heart failure due to septal defects that required early heart surgery and microcephaly in association with cerebral atrophy and thin corpus collosum. The subsequent asymmetrical onset of diaphragmatic paralysis, persistent hypotonia, and generalized muscle weakness led to the suspicion of spinal muscular atrophy with respiratory distress type 1. Sanger sequencing confirmed a compound heterozygous mutation in the Immunoglobulin Mu Binding Protein 2 (IGHMBP2) gene, with a known mutation c...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/29668332/neurological-complications-of-zika-virus-infection
#3
Francisco Javier Carod-Artal
Zika virus (ZIKV) disease is a vector-borne infectious disease transmitted by Aedes mosquitoes. Recently, ZIKV has caused outbreaks in most American countries. Areas covered: Publications about neurological complications of ZIKV infection retrieved from pubmed searchers were reviewed, and reference lists and relevant articles from review articles were also examined. Vertical/intrauterine transmission leads to congenital infection and causes microcephaly and congenital ZIKV syndrome. ZIKV preferentially infects human neural progenitor cells and triggers cell apoptosis...
May 2018: Expert Review of Anti-infective Therapy
https://www.readbyqxmd.com/read/29465610/col6a-and-lama2-mutation-congenital-muscular-dystrophy-a-clinical-and-electrophysiological-study
#4
Sumit Verma, Parul Goyal, Lokesh Guglani, Charlotte Peinhardt, Diane Pelzek, Paul E Barkhaus
OBJECTIVES: COL6A and LAMA2 are subtypes of congenital muscular dystrophy. METHODS: Retrospective chart review of clinical findings, spirometry, muscle histology, muscle ultrasound, neuroimaging, and Electromyography (EMG)/Nerve Conduction Study data in genetically confirmed COL6A and LAMA2 subjects. RESULTS: We identified 8 COL6A and 6 LAMA2 subjects: the female-to-male ratio was 1.3:1 and the mean age was 11.9 ± 3.6 years. Gross motor delays since birth, proximal muscle weakness, and contractures were noted in both groups...
March 2018: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28653176/amino-acid-synthesis-deficiencies
#5
REVIEW
T J de Koning
In recent years the number of disorders known to affect amino acid synthesis has grown rapidly. Nor is it just the number of disorders that has increased: the associated clinical phenotypes have also expanded spectacularly, primarily due to the advances of next generation sequencing diagnostics. In contrast to the "classical" inborn errors of metabolism in catabolic pathways, in which elevated levels of metabolites are easily detected in body fluids, synthesis defects present with low values of metabolites or, confusingly, even completely normal levels of amino acids...
July 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28601976/zika-virus-as-an-emerging-neuropathogen-mechanisms-of-neurovirulence-and-neuro-immune-interactions
#6
REVIEW
Gerwyn Morris, Tatiana Barichello, Brendon Stubbs, Cristiano A Köhler, André F Carvalho, Michael Maes
Zika virus (ZIKV) is an emerging arbovirus of the genus Flaviviridae, which causes a febrile illness and has spread from across the Pacific to the Americas in a short timeframe. Convincing evidence has implicated the ZIKV to incident cases of neonatal microcephaly and a set of neurodevelopmental abnormalities referred to as the congenital Zika virus syndrome. In addition, emerging data points to an association with the ZIKV and the development of the so-called Guillain-Barre syndrome, an acute autoimmune polyneuropathy...
May 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/28247771/poems-syndrome-and-idiopathic-portal-hypertension-a-possible-association
#7
LETTER
Sara Campos, Cláudia Agostinho, Maria Augusta Cipriano
A 48-year old female patient was admitted to the emergency department with upper gastrointestinal bleeding. Endoscopy showed large esophageal varices that were treated with band ligation. She had been treated with cyclophosphamide, melphalan, lenalidomide and corticosteroids for POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy or edema, M protein, skin changes). She had no other risk factors for chronic liver disease. Laboratory and radiological examinations could not confirm the etiology of portal hypertension...
May 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/28221312/what-s-in-the-literature
#8
David Lacomis, Nicholas J Silvestri, Edward J Fine, Gil I Wolfe
In this edition of this column, we review new studies concerning the pathophysiology, treatment, and outcomes of patients with necrotizing myopathy, genetic testing in congenital myopathies, and limb girdle muscular dystrophies, and the incidence of polyneuropathy in the myotonic dystrophies. Various studies in myasthenia gravis, including those concerning antibody testing, clinical features, and quality of life are also reviewed as are recent findings in congenital myasthenic syndromes. Finally, 2 studies concerning polyneuropathy are discussed, including one on the association of polyneuropathy in patients with the metabolic syndrome and one on laboratory testing in patients with otherwise idiopathic small fiber polyneuropathy...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27891585/novel-mutations-in-kars-cause-hypertrophic-cardiomyopathy-and-combined-mitochondrial-respiratory-chain-defect
#9
D Verrigni, D Diodato, M Di Nottia, A Torraco, E Bellacchio, T Rizza, G Tozzi, M Verardo, F Piemonte, G Tasca, A D'Amico, E Bertini, R Carrozzo
Mutations in KARS, which encodes for both mitochondrial and cytoplasmic lysyl-tRNA synthetase, have been so far associated with three different phenotypes: the recessive form of Charcot-Mary-Tooth polyneuropathy, the autosomal recessive nonsyndromic hearing loss and the last recently described condition related to congenital visual impairment and progressive microcephaly. Here we report the case of a 14-year-old girl with severe cardiomyopathy associated to mild psychomotor delay and mild myopathy; moreover, a diffuse reduction of cytochrome C oxidase (COX, complex IV) and a combined enzymatic defect of complex I (CI) and complex IV (CIV) was evident in muscle biopsy...
June 2017: Clinical Genetics
https://www.readbyqxmd.com/read/27527917/combined-heart-liver-transplantation-indications-outcomes-and-current-experience
#10
REVIEW
Eliza W Beal, Khalid Mumtaz, Don Hayes, Bryan A Whitson, Sylvester M Black
Combined heart-liver transplantation is a rare, life-saving procedure that treats complex and often fatal diseases including familial amyloidosis polyneuropathy and late stage congenital heart disease status-post previous repair. There were 159 combined heart-liver transplantations performed between January 1, 1988 and October 3, 2014 in the United States. A multitude of potential techniques to be used for combined heart and liver transplant including: orthotopic heart transplant (OHT) and orthotopic liver transplant (OLT) on full cardiopulmonary bypass (CPB), OHT with CPB and OLT with venovenous bypass (VVB), OHT with CPB and OLT without VVB, en-bloc technique and sequential transplantation...
October 2016: Transplantation Reviews
https://www.readbyqxmd.com/read/27150940/recessive-optic-atrophy-sensorimotor-neuropathy-and-cataract-associated-with-novel-compound-heterozygous-mutations-in-opa1
#11
REVIEW
Jinho Lee, Sung-Chul Jung, Young Bin Hong, Jeong Hyun Yoo, Heasoo Koo, Ja Hyun Lee, Hyun Dae Hong, Sang-Beom Kim, Ki Wha Chung, Byung-Ok Choi
Mutations in the optic atrophy 1 gene (OPA1) are associated with autosomal dominant optic atrophy and 20% of patients demonstrate extra-ocular manifestations. In addition to these autosomal dominant cases, only a few syndromic cases have been reported thus far with compound heterozygous OPA1 mutations, suggestive of either recessive or semi‑dominant patterns of inheritance. The majority of these patients were diagnosed with Behr syndrome, characterized by optic atrophy, ataxia and peripheral neuropathy. The present study describes a 10-year-old boy with Behr syndrome presenting with early‑onset severe optic atrophy, sensorimotor neuropathy, ataxia and congenital cataracts...
July 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/25988079/acute-motor-axonal-neuropathy-in-a-patient-with-prolonged-cd4-depletion-due-to-hiv-a-local-variant-of-macrophage-activation-syndrome
#12
Christopher Dardis
Acute inflammatory demyelinating polyneuropathy or Guillain-Barré syndrome is well recognized as a presenting feature of human immunodeficiency virus (HIV) seroconversion and, to a lesser extent, as a complication of HIV infection, particularly immune reconstitution. Acute motor axonal neuropathy (AMAN) is much rarer in this setting. A case is presented of acute motor neuropathy, with features most consistent with AMAN in the setting of congenital HIV and prolonged non-compliance with antiretroviral treatment...
February 2015: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/25927242/46-xy-gonadal-dysgenesis-due-to-a-homozygous-mutation-in-desert-hedgehog-dhh-identified-by-exome-sequencing
#13
Ralf Werner, Hartmut Merz, Wiebke Birnbaum, Louise Marshall, Tatjana Schröder, Benedikt Reiz, Jennifer M Kavran, Tobias Bäumer, Philipp Capetian, Olaf Hiort
BACKGROUND: 46,XY disorders of sex development (DSD) comprise a heterogeneous group of congenital conditions. Mutations in a variety of genes can affect gonadal development or androgen biosynthesis/action and thereby influence the development of the internal and external genital organs. OBJECTIVE: The objective of the study was to identify the genetic cause in two 46,XY sisters of a consanguineous family with DSD and gonadal tumor formation. METHODS: We used a next-generation sequencing approach by exome sequencing...
July 2015: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/25873783/charcot-marie-tooth-4b2-caused-by-a-novel-mutation-in-the-mtmr13-sbf2-gene-in-two-related-portuguese-families
#14
Luís Negrão, Luciano Almendra, Joana Ribeiro, Anabela Matos, Argemiro Geraldo, Jorge Pinto-Basto
INTRODUCTION: CMT4B2 is a rare subtype of CMT caused by pathogenic mutations in the myotubularin-related protein-13/set binding factor 2 (MTMR13/SBF2) gene. Nerve conduction velocities are markedly reduced and focally folded myelin sheaths are present on nerve biopsies. We presented two patients from two related Portuguese families with peripheral neuropathy caused by a novel mutation in the MTMR13/SBF2 gene. CASE REPORT: Family 1: Patient 1: A 30-year-old woman, with disease onset in early childhood presented pes cavus and hammertoes and walked with a steppage gait...
December 2014: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/25482575/a-family-with-axonal-sensorimotor-polyneuropathy-with-tubb3-mutation
#15
Young Bin Hong, Ja Hyun Lee, Hyung Jun Park, Yu-Ri Choi, Young Se Hyun, Ji Hoon Park, Heasoo Koo, Ki Wha Chung, Byung-Ok Choi
Mutations in the β‑tubulin isotype III (TUBB3) gene result in TUBB3 syndrome that includes congenital fibrosis of the extraocular muscle type 3 (CFEOM3), intellectual impairments and/or an axonal sensorimotor neuropathy. In the present study, a TUBB3 D417N mutation was identified in a family with axonal sensorimotor polyneuropathy by whole exome sequencing. The proband exhibited gait disturbance at the age of 12 years and was wheelchair bound at 40 years. However, the proband's cousin exhibited gait disabilities at 45 years of age and was still able to walk when he was 60 years old...
April 2015: Molecular Medicine Reports
https://www.readbyqxmd.com/read/24943079/-familial-progressive-external-opthalmoplegia-parkinsonism-and-polyneuropathy-associated-with-polg1-mutation
#16
REVIEW
Masako Mukai, Keizo Sugaya, Shiro Matsubara, Huaying Cai, Ichiro Yabe, Hidenao Sasaki, Imaharu Nakano
Multiple mitochondrial DNA (mtDNA) deletions usually occur secondarily to a mutation in one of the enzymes involved in mtDNA maintenance, such as polymerase γ, which is encoded by the nuclear polymerase γ1 gene (POLG1) and POLG2. Patients with multiple mtDNA deletion disorders show clinical heterogeneity of symptoms, in addition to usually seen progressive external ophthalmoplegia (PEO). We conducted clinical, histological and genetic analyses of two affected sisters in a family with the autosomal dominant inheritance pattern of PEO...
2014: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/24486223/atlas-shrugged-cervical-myelopathy-caused-by-congenital-atlantoaxial-dislocation-aggravated-by-child-labor
#17
Roneil N Parikh, Mamta Muranjan, Sunil Karande, Shilpa Sankhe
BACKGROUND: Symptomatic atlantoaxial dislocation is common in predisposing genetic or acquired disorders. However, an isolated atlantoaxial dislocation frequently is congenital and silent unless discovered during course of evaluation for neurological symptoms of cervical spinal cord injury attributed to minor or chronic, repetitive trauma. PATIENT: A 12-year-old girl working as a farm laborer developed calf pain provoked by walking, which increased in severity and progressed to involve the upper limbs...
April 2014: Pediatric Neurology
https://www.readbyqxmd.com/read/24259772/electrophysiological-evaluation-of-chronic-inflammatory-demyelinating-polyneuropathy-and-charcot-marie-tooth-type-1-dispersion-and-correlation-analysis
#18
Ji Hyuk Kang, Hye Jeong Kim, Eun Ryeong Lee
[Purpose] The purpose of this study was to analyze and compare electrophysiological characteristics observed in nerve conduction studies (NCS) of chronic inflammatory demyelinating polyneuropathy (CIDP) and Charcot-Marie-Tooth disease type 1 (CMT 1). [Subjects] A differential diagnosis of acquired and congenital demyelinating neuropathies was based on a study of 35 patients with NCS-confirmed CIDP and 30 patients with CMT 1 genetically proven by peripheral myelin protein-22 (PMP-22) gene analysis, pulsed-field gel electrophoresis (PFGE), and Southern blot analysis...
October 2013: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/24094759/-congenital-insensitivity-to-pain-clinical-and-neurophysiological-study-in-three-sisters-of-a-moroccan-family
#19
N Kissani, H Krrati, G Alarcon, H Belaaidi, R Ouazzani
Congenital insensitivity to pain is a rare hereditary sensory and autonomic neuropathy (HSAN). This disorder is an autosomal recessive condition: since 1996, mutations attributed to this entity have been found in the neurotrophin tyrosine-kinase gene receptor on chromosome 1. The authors report 3 cases of congenital insensitivity to pain. In these 3 sisters of consanguineous parents, the clinical investigation showed total absence of pain and temperature sensations with preservation of all other sensory modalities, mental retardation, but in contrast to HSAN type IV, there was no anhidrosis...
November 2013: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/23938035/adult-centronuclear-myopathies-a-hospital-based-study
#20
A Echaniz-Laguna, V Biancalana, J Böhm, C Tranchant, J-L Mandel, J Laporte
INTRODUCTION: Centronuclear myopathies (CNM) are rare inherited disorders characterized by nuclei placed in rows in the central part of the muscle fibres. Three CNM-causing genes have been identified, with MTM1 mutations provoking X-linked myotubular myopathy, DNM2 mutations provoking autosomal dominant (AD) CNM, and BIN1 mutations provoking autosomal recessive (AR) CNM. METHODS: In this retrospective monocentric study, we describe 14 adult patients (age>18 years) diagnosed with CNM in our hospital in the 2000-2012 interval...
August 2013: Revue Neurologique
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