scholarly journals Danon disease: A case report and literature overview

2007 ◽  
Vol 135 (3-4) ◽  
pp. 197-200
Author(s):  
Suad Catovic ◽  
Petar Otasevic
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Treatment Strategies ◽  
Glycogen Storage ◽  
Danon Disease ◽  
Appropriate Treatment ◽  
Therapeutic Measures ◽  
Systolic And Diastolic Function ◽  
Ventricular Preexcitation ◽  
Proximal Myopathy

Danon disease, a rare glycogen storage disease, is a dominant X-linked disorder. It is due to mutation in gene for lysosome-associated membrane protein 2 (LAMP 2). The LAMP 2 gene is located on Xq24, and its mutation causes primary deficiency of LAMP 2 and myocyte hypertrophy by accumulations of vacuoles containing glycogen. Danon disease is clinically characterized by the triad of hypertrophic cardiomyopathy (HCM), proximal myopathy and mental retardation. Myopathy and mental retardation can be absent, and cardiomyopathy is usually hypertrophic. This is a case report of the patient with genetically confirmed Danon disease and mixed cardiomyopathy, but without myopathy and mental retardation. ECG showed typical Wolff-Parkinson-White (WPW) pattern while echocardiography demonstrated hypertrophy and dilatation of all cardiac chambers with impaired systolic and diastolic function. Male sex, early onset of symptoms, massive hypertrophy of the myocardium and ventricular preexcitation indicate a genetic basis for HCM. Therapeutic measures, except heart transplantation, do not improve prognosis substantially. Only an accurate diagnosis in patients with unexplained HCM helps in establishing of the appropriate treatment strategies and adequate genetic consultation. .

scholarly journals Asymptomatic Young Man with Danon Disease

2014 ◽  
Vol 41 (3) ◽  
pp. 332-334 ◽  
Author(s):  
Jiwon Kim ◽  
Parag Parikh ◽  
Mohammad Mahboob ◽  
James A. Arrighi ◽  
Michael K. Atalay ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Left Ventricular Hypertrophy ◽  
Ventricular Hypertrophy ◽  
Treatment Plan ◽  
Genetic Disorder ◽  
Left Ventricular ◽  
Danon Disease ◽  
Skeletal Myopathy ◽  
Appropriate Treatment ◽  
Clinically Significant

Danon disease is a rare, codominant X-linked genetic disorder characterized by the triad of left ventricular hypertrophy, mental retardation, and peripheral myopathy. This disease is caused by mutations in the gene that encodes lysosomal associated membrane protein 2 (LAMP2), a deficiency of which results in the accumulation of autophagic granular débris within the vacuoles of muscle cells. This is a report of an asymptomatic 19-year-old man with Danon disease in the absence of mental retardation or clinically significant skeletal myopathy. This case underscores the importance of accurate diagnosis of unexplained left ventricular hypertrophy, in order to establish an appropriate treatment plan and to advise genetic counseling.

scholarly journals Case Report: A Novel LAMP2 Splice-Altering Mutation Causes Cardiac-Only Danon Disease

2021 ◽  
Vol 8 ◽  
Author(s):  
Zongzhe Li ◽  
Fei Ma ◽  
Rui Li ◽  
Zhichao Xiao ◽  
Hesong Zeng ◽  
...  
Keyword(s):  
Ventricular Tachycardia ◽  
Case Report ◽  
Transmembrane Domain ◽  
Stop Codon ◽  
Splice Site Mutation ◽  
Glycogen Storage ◽  
Amino Acid Residues ◽  
Site Mutation ◽  
Lysosomal Disorder ◽  
Danon Disease

Danon disease (DD) is a rare glycogen storage lysosomal disorder caused by mutations in the LAMP2 gene. Patients with DD are usually characterized clinically by severe multisystem syndromes. We describe a specific family with a novel pathogenic splice-altering mutation in the LAMP2 gene (c.741+2T>C) with cardiac-only symptoms (frequent ventricular tachycardia, intraventricular block, and hypertrophic cardiomyopathy). Minigene assays were used to evaluate the consequence of the splice-site mutation in the LAMP2 gene. The results showed that the c.741+2T>C mutation led to extra 6-bp preservation of intron 5 at the junction between exons 5 and 6 during transcriptional processing of the mRNA, which creates a stop codon and truncated the LAMP2 protein to 248-amino-acid residues. The mutant LAMP2 protein was predicted to have a conformational change, lacks the important transmembrane domain, and subsequent protein destabilization.

scholarly journals Bone metastases in an adult patient with diffuse midline glioma: a case report

2020 ◽  
Author(s):  
Li Shaoqun ◽  
Lai Mingyao ◽  
Zhen Junjie ◽  
Deng Guanhua ◽  
Li Hainan ◽  
...  
Keyword(s):  
Case Report ◽  
Bone Metastases ◽  
Adult Patient ◽  
Treatment Strategies ◽  
Chinese Woman ◽  
Diagnostic Methods ◽  
Old Chinese ◽  
Appropriate Treatment ◽  
Multiple Bone Metastases ◽  
Diffuse Midline Glioma

Abstract A 36-year-old Chinese woman was diagnosed with diffuse midline glioma and received radiotherapy and chemotherapy. Ten months later, bone metastases were confirmed by pathological biopsy. This case is one of a handful of cases in which an adult patient with diffuse midline glioma had multiple bone metastases. Better diagnostic methods and more appropriate treatment strategies for diffuse midline glioma are urgently needed, requiring further investigations into the mechanisms underlying metastases.

Non-invasive ultrasound-based imaging of atherosclerosis

VASA ◽  
2019 ◽  
Vol 48 (2) ◽  
pp. 126-133 ◽  
Author(s):  
Mathias Kaspar ◽  
Iris Baumgartner ◽  
Daniel Staub ◽  
Heinz Drexel ◽  
Christoph Thalhammer
Keyword(s):  
Large Population ◽  
Treatment Strategies ◽  
Intima Media Thickness ◽  
Scientific Work ◽  
Flow Mediated Dilation ◽  
Non Invasive ◽  
Grey Scale ◽  
Current Review ◽  
Appropriate Treatment ◽  
Contrast Enhanced

Abstract. Early detection of vascular damage in atherosclerosis and accurate assessment of cardiovascular risk factors are the basis for appropriate treatment strategies in cardiovascular medicine. The current review focuses on non-invasive ultrasound-based methods for imaging of atherosclerosis. Endothelial dysfunction is an accepted early manifestation of atherosclerosis. The most widely used technique to study endothelial function is non-invasive, flow-mediated dilation of the brachial artery under high-resolution ultrasound imaging. Although an increased intima-media thickness value is associated with future cardiovascular events in several large population studies, systematic use is not recommended in clinical practice for risk assessment of individual persons. Carotid plaque analysis with grey-scale median, 3-D ultrasound or contrast-enhanced ultrasound are promising techniques for further scientific work in prevention and therapy of generalized atherosclerosis.

scholarly journals A Closer Look at the Cellular and Molecular Components of the Deep/Muscular Fasciae

2021 ◽  
Vol 22 (3) ◽  
pp. 1411
Author(s):  
Caterina Fede ◽  
Carmelo Pirri ◽  
Chenglei Fan ◽  
Lucia Petrelli ◽  
Diego Guidolin ◽  
...  
Keyword(s):  
Extracellular Matrix ◽  
Connective Tissue ◽  
Treatment Strategies ◽  
Clear Understanding ◽  
Pathological Characteristics ◽  
Appropriate Treatment ◽  
Different Types ◽  
Molecular Components ◽  
Entire Network ◽  
Shed Light

The fascia can be defined as a dynamic highly complex connective tissue network composed of different types of cells embedded in the extracellular matrix and nervous fibers: each component plays a specific role in the fascial system changing and responding to stimuli in different ways. This review intends to discuss the various components of the fascia and their specific roles; this will be carried out in the effort to shed light on the mechanisms by which they affect the entire network and all body systems. A clear understanding of fascial anatomy from a microscopic viewpoint can further elucidate its physiological and pathological characteristics and facilitate the identification of appropriate treatment strategies.

scholarly journals R1352Q CACNA1A Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report

2021 ◽  
pp. 123-130
Author(s):  
Anker Stubberud ◽  
Emer O’Connor ◽  
Erling Tronvik ◽  
Henry Houlden ◽  
Manjit Matharu
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Genetic Testing ◽  
Head Trauma ◽  
Cerebral Oedema ◽  
De Novo ◽  
Minor Head Trauma ◽  
Hemiplegic Migraine ◽  
Wide Range ◽  
History Of

Mutations in the <i>CACNA1A</i> gene show a wide range of neurological phenotypes including hemiplegic migraine, ataxia, mental retardation and epilepsy. In some cases, hemiplegic migraine attacks can be triggered by minor head trauma and culminate in encephalopathy and cerebral oedema. A 37-year-old male without a family history of complex migraine experienced hemiplegic migraine attacks from childhood. The attacks were usually triggered by minor head trauma, and on several occasions complicated with encephalopathy and cerebral oedema. Genetic testing of the proband and unaffected parents revealed a de novo heterozygous nucleotide missense mutation in exon 25 of the <i>CACNA1A</i> gene (c.4055G&#x3e;A, p.R1352Q). The R1352Q <i>CACNA1A</i> variant shares the phenotype with other described <i>CACNA1A</i> mutations and highlights the interesting association of trauma as a precipitant for hemiplegic migraine. Subjects with early-onset sporadic hemiplegic migraine triggered by minor head injury or associated with seizures, ataxia or episodes of encephalopathy should be screened for mutations. These patients should also be advised to avoid activities that may result in head trauma, and anticonvulsants should be considered as prophylactic migraine therapy.

A novel nonsense variant associated with Danon disease in a pediatric male: A case report

2021 ◽  
Vol 132 (2) ◽  
pp. S23
Author(s):  
Daniela Castillo-Garcia ◽  
Magdalena Cerón-Rodriguez ◽  
Carlos Patricio Acosta-Rodriguez-Bueno ◽  
Jesús Aguirre-Hernández ◽  
Judith Almanza-Aranda ◽  
...  
Keyword(s):  
Case Report ◽  
Danon Disease
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