Rare neurological manifestations in a Saudi Arabian patient with Ehlers–Danlos syndrome and a novel homozygous variant in the TNXB gene

2021 ◽  
Author(s):  
Talal M. Al‐Harbi ◽  
Haya Al‐Rammah ◽  
Naif Al‐Zahrani ◽  
Yichuan Liu ◽  
Patrick M. A. Sleiman ◽  
...  
Keyword(s):  
Saudi Arabian ◽  
Neurological Manifestations ◽  
Ehlers Danlos Syndrome ◽  
Homozygous Variant ◽  
Danlos Syndrome

scholarly journals Further Evidence of a Recessive Variant in COL1A1 as an Underlying Cause of Ehlers–Danlos Syndrome: A Report of a Saudi Founder Mutation

2021 ◽  
Author(s):  
Ahmad Almatrafi ◽  
Jamil A. Hashmi ◽  
Fatima Fadhli ◽  
Asma Alharbi ◽  
Sibtain Afzal ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Homozygous Mutation ◽  
Connective Tissues ◽  
Ehlers Danlos Syndrome ◽  
Col1a1 Gene ◽  
Homozygous Variant ◽  
Whole Exome ◽  
The One ◽  
Danlos Syndrome ◽  
Autosomal Recessive Manner

AbstractEhlers–Danlos syndrome (EDS) is a group of clinically and genetically heterogeneous disorder of soft connective tissues. The hallmark clinical features of the EDS are hyperextensible skin, hypermobile joints, and fragile vessels. It exhibits associated symptoms including contractures of muscles, kyphoscoliosis, spondylodysplasia, dermatosparaxis, periodontitis, and arthrochalasia. The aim of this study is to determine the exact subtype of EDS by molecular genetic testing in a family segregating EDS in an autosomal recessive manner. Herein, we describe a family with two individuals afflicted with EDS. Whole exome sequencing identified a homozygous missense mutation (c.2050G > A; p.Glu684Lys) in the COL1A1 gene in both affected individuals, although heterozygous variants in the COL1A1 are known to cause EDS. Recently, only one report showed homozygous variant as an underlying cause of the EDS in two Saudi families. This is the second report of a homozygous variant in the COL1A1 gene in a family of Saudi origin. Heterozygous carriers of COL1A1 variant are asymptomatic. Interestingly, the homozygous variant identified previously and the one identified in this study are same (c.2050G > A). The identification of a unique homozygous mutation (c.2050G > A) in three Saudi families argues in favor of a founder effect.

scholarly journals Neurological manifestations of Ehlers-Danlos syndrome

2005 ◽  
Vol 53 (3) ◽  
pp. 339 ◽  
Author(s):  
AB Taly ◽  
GR Arunodaya ◽  
SG Srikanth ◽  
T Mathew ◽  
S Sinha
Keyword(s):  
Neurological Manifestations ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

Ehlers—Danlos syndrome and multiple sclerosis: a possible association

2008 ◽  
Vol 14 (4) ◽  
pp. 567-570 ◽  
Author(s):  
J. Vilisaar ◽  
S. Harikrishnan ◽  
M. Suri ◽  
CS Constantinescu
Keyword(s):  
Multiple Sclerosis ◽  
General Population ◽  
Connective Tissue ◽  
Causal Relationship ◽  
Tissue Level ◽  
Outpatient Clinics ◽  
Neurological Manifestations ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

Ehlers—Danlos syndrome (EDS) has various neurological manifestations. Here we present an association of EDS with multiple sclerosis (MS). Four MS patients from a total of 1892 followed up at our MS outpatient clinics had EDS. This frequency suggests 10—11 times increased prevalence of EDS in MS patients compared with the general population ( P = 0.02). Suggested implications include a possible causal relationship on a connective tissue level with a higher susceptibility to MS in EDS. Diagnostic and management considerations are important in coexisting MS and EDS. Our patients had relatively florid lesions on brain MRIs and typical course and features of MS. Multiple Sclerosis 2008; 14 : 567—570. http://msj.sagepub.com

scholarly journals Application of immunotherapy for neurological manifestations in hypermobile Ehlers–Danlos syndrome

2018 ◽  
Vol 11 ◽  
pp. 175628641879376 ◽  
Author(s):  
Manabu Araki ◽  
Youwei Lin ◽  
Hirohiko Ono ◽  
Wakiro Sato ◽  
Takashi Yamamura
Keyword(s):  
Neurological Manifestations ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

Ehlers-Danlos Syndrome, Kyphoscoliotic Type (Formerly Type VI) as Differential Diagnosis to Neuromuscular Diseases

2016 ◽  
Vol 47 (S 01) ◽  
Author(s):  
M. Schroth ◽  
C. Reihle ◽  
M. Wachowsky ◽  
L. Travan ◽  
M. Buob ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Neuromuscular Diseases ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

Psychiatric Manifestations of Ehlers-Danlos Syndrome in Adolescents: A Case Report and Literature Review

2020 ◽  
Vol 16 ◽  
Author(s):  
Daisy Vyas Shirk ◽  
Sarah D. Williams
Keyword(s):  
Chronic Pain ◽  
Literature Review ◽  
Literature Search ◽  
Web Search ◽  
Psychiatric Symptoms ◽  
Connective Tissue Disorders ◽  
Ehlers Danlos Syndrome ◽  
Symptoms Of Depression ◽  
Psychiatric Manifestations ◽  
Danlos Syndrome

Background: Ehlers-Danlos Syndromes (EDS) comprise a group of heterogeneous hereditary connective tissue disorders [1, 2]. Psychiatric disorders such as depression, anxiety, panic disorder, agoraphobia, schizophrenia, neurodevelopmental disorders, personality disorder, eating disorders, substance misuse and interpersonal issues have been reported in the literature to be associated with EDS [1-3]. Objectives: The case of a 15-year -old male who was hospitalized after a suicide attempt by gunshot was discovered to have symptoms suggestive of EDS is presented in this paper along with the results of a literature search of psychiatric manifestations of EDS in children and adolescents. Methods: Literature review was conducted on the UpToDate website on March 11, 2020 to review symptoms of EhlersDanlos Syndrome for the purpose of preliminary diagnosis of this patient. Additional literature search was conducted on PubMed on 4/2/20 at 12:10 P.M. and on 4/9/20 at 10:51 P.M. and on the search engine Google on 4/2/20 at 12:25 P.M. On May 11, 2020 at 2 P.M., another web search was conducted with review of 6 different websites pertaining to EhlersDanlos Syndrome. Results: A systematic review of psychiatric manifestations of Ehlers-Danlos Syndromes revealed a strong incidence of psychiatric symptoms. Conclusion: Our patient’s psychiatric symptoms of depression, suicidal ideations, anxiety and social and educational struggles may have been at least partially due to chronic pain- abdominal, headache and musculoskeletal, and social ostracization associated with Ehlers-Danlos Syndrome. Education regarding this illness helped our patient’s recovery as he came to understand why he was so “odd” and the cause of his multisystemic chronic pain.

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