2-Hydroxyglutaric Acidurias

2016 ◽  
Author(s):  
Eduard A. Struys ◽  
Marjo S. van der Knaap ◽  
Gajja S. Salomons
Keyword(s):  
Acid Metabolism ◽  
Clinical Presentation ◽  
Treatment Options ◽  
Type I ◽  
Neonatal Encephalopathy ◽  
Congenital Diseases ◽  
Motor Delay ◽  
Open Treatment ◽  
Disease Entities ◽  
Hydroxyglutaric Acid

The group of congenital diseases related to 2-hydroxyglutaric acid metabolism consists of five disease entities: D-2-hydroxyglutaric aciduria Type I (D2HGA-I), D-2-hydroxyglutaric aciduria Type II (D2HGA-II), metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA), L-2-hydroxyglutaric aciduria (L2HGA), and combined D,L-2-hydroxyglutaric aciduria (DL2HGA). Overall, the clinical presentation varies from early onset with mostly lethal neonatal encephalopathy in DL2HGA to slowly progressive mental and motor delay with white matter abnormalities, with an insidious and sometimes adult clinical presentation in L2HGA. Currently no proven treatment options are available for these diseases, although recently gained novel biochemical and genetic insights open treatment perspectives.

An Overview of Dementias

2012 ◽  
Vol 21 (3) ◽  
pp. 75-84
Author(s):  
Venkata Vijaya K. Dalai ◽  
Jason E. Childress ◽  
Paul E Schulz
Keyword(s):  
Clinical Presentation ◽  
Treatment Options ◽  
Current Treatment ◽  
Great Variability ◽  
Health Concern ◽  
Public Health Concern ◽  
Life Threatening ◽  
The Common ◽  
Neurodegenerative Dementias ◽  
Made In

Dementia is a major public health concern that afflicts an estimated 24.3 million people worldwide. Great strides are being made in order to better diagnose, prevent, and treat these disorders. Dementia is associated with multiple complications, some of which can be life-threatening, such as dysphagia. There is great variability between dementias in terms of when dysphagia and other swallowing disorders occur. In order to prepare the reader for the other articles in this publication discussing swallowing issues in depth, the authors of this article will provide a brief overview of the prevalence, risk factors, pathogenesis, clinical presentation, diagnosis, current treatment options, and implications for eating for the common forms of neurodegenerative dementias.

Phlegmasia cerulea dolens – an uncommon but alarming manifestation of deep vein thrombosis

VASA ◽  
2020 ◽  
Vol 49 (5) ◽  
pp. 422-426
Author(s):  
Manuela Nickler ◽  
Sebastian Haubitz ◽  
Adriana Méndez ◽  
Martin Gissler ◽  
Peter Stierli ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Treatment Options ◽  
Bleeding Risk ◽  
Venous Intervention ◽  
Aggressive Treatment ◽  
Vein Thrombosis ◽  
Prompt Treatment ◽  
Surgical Thrombectomy ◽  
Deep Vein ◽  
Phlegmasia Cerulea Dolens

Summary: In phlegmasia cerulea dolens (PCD), immediate diagnosis and prompt treatment is crucial for limb salvage. Aggressive treatment options including venous intervention, thrombolysis and/or surgical thrombectomy should be considered. Due to the lack of data, the most appropriate intervention depends upon etiology of PCD, clinical presentation and patient’s bleeding risk.

Hydrocephalus in Spinal Muscular Atrophy: A Case Report and Review of the Literature

2020 ◽  
Author(s):  
Jeetendra P. Sah ◽  
Aaron W. Abrams ◽  
Geetha Chari ◽  
Craig Linden ◽  
Yaacov Anziska
Keyword(s):  
Spinal Muscular Atrophy ◽  
Clinical Characteristics ◽  
Clinical Presentation ◽  
Muscular Atrophy ◽  
Communicating Hydrocephalus ◽  
Type I ◽  
Review Of The Literature ◽  
Radiographic Findings ◽  
Comprehensive Review ◽  
The Relationship

AbstractIn this article, we reported a case of spinal muscular atrophy (SMA) type I noted to have tetraventricular hydrocephalus with Blake's pouch cyst at 8 months of age following intrathecal nusinersen therapy. The association of hydrocephalus with SMA is rarely reported in the literature. Development of hydrocephalus after intrathecal nusinersen therapy is also reported in some cases, but a cause–effect relationship is not yet established. The aim of this study was to describe the clinical characteristics of a patient with SMA type I and hydrocephalus, to review similar cases reported in the literature, and to explore the relationship between nusinersen therapy and development of hydrocephalus. The clinical presentation and radiographic findings of the patient are described and a comprehensive review of the literature was conducted. The adverse effect of communicating hydrocephalus related to nusinersen therapy is being reported and the authors suggest carefully monitoring for features of hydrocephalus developing during the course of nusinersen therapy.

scholarly journals Cardiovascular involvement in alpha-n-acetyl neuraminidase deficiency syndromes (sialidosis type I and II)

2021 ◽  
pp. 1-3
Author(s):  
Priyanka Prasanna ◽  
Chenni S. Sriram ◽  
Sarah H. Rodriguez ◽  
Utkarsh Kohli
Keyword(s):  
Autosomal Recessive ◽  
Ventricular Dysfunction ◽  
Clinical Presentation ◽  
Clinical Course ◽  
Rare Condition ◽  
Autosomal Recessive Disorder ◽  
Left Ventricular ◽  
Type I ◽  
Neonatal Onset ◽  
Cardiovascular Involvement

Abstract Sialidosis, a rare autosomal recessive disorder, is caused by a deficiency of NEU1 encoded enzyme alpha-N-acetyl neuraminidase. We report a premature male with neonatal-onset type II sialidosis which was associated with left ventricular dysfunction. The clinical presentation and subsequent progression which culminated in his untimely death at 16 months of age are succinctly described. Early-onset cardiovascular involvement as noted in this patient is not well characterised. The case report is supplemented by a comprehensive review of the determinants, characteristics, and the clinical course of cardiovascular involvement in this rare condition.

Efficiency of diffusion-weighted MRI for differentiating radiologically similar simple and type I hydatid cysts of the liver

2021 ◽  
pp. 028418512098813
Author(s):  
Ilyas Dundar ◽  
Mesut Ozgokce ◽  
Fatma Durmaz ◽  
Sercan Ozkacmaz ◽  
Saim Turkoglu ◽  
...  
Keyword(s):  
Treatment Options ◽  
Type I ◽  
Hydatid Cysts ◽  
Liver Cysts ◽  
Diffusion Weighted ◽  
Significant Difference ◽  
Mean Diameter ◽  
Apparent Diffusion ◽  
Adc Values ◽  
Hepatic Lesions

Background Determining the nature of purely cystic hepatic lesions is essential because different kinds have different follow-ups, treatment options, and complications. Purpose To explore the potential of apparent diffusion coefficient (ADC) values of diffusion-weighted imaging (DWI) for the differentiation of type I hydatid cysts (HC) and simple liver cysts (SLC), which have similar radiological appearances. Material and Methods This single-center prospective study was conducted during 2016–2019. Round, homogenous, anechoic liver cysts >1 cm were classified according to at least two years of imaging follow-up, radiological features, serology, as well as puncture aspiration injection reaspiration procedure and pathology results. ADC values of 95 cysts (50 type I HCs and 45 SLCs) were calculated on DWI. The differences in ADC values were analyzed by independent t-test. Results Of 51 patients, 28 were female, 23 were male (mean age 32.07 ± 22.95 years; age range 5–82 years). Mean diameter of 45 SLCs was 2.59 ± 1.23 cm (range 1.2–7.6 cm) and ADCmean value was 3.03 ± 0.47 (range 2.64–5.85) while mean diameter of 50 type I HCs was 7.49 ± 2.95 cm (range 2.8–14 cm) and ADCmean value was 2.99 ± 0.29 (range 2.36–3.83). There was no statistically significant difference in ADC values between type I HCs and SLCs Conclusion Some studies report that ADC values of type I HCs are statistically significantly lower than those of SLCs. Others suggest no significant difference. In our study with a higher number of cases, using ADC parameters similar to those in previous studies, we did not find any statistically significant difference.

scholarly journals Management of Amelogenesis Imperfecta in Childhood: Two Case Reports

2021 ◽  
Vol 18 (13) ◽  
pp. 7204
Author(s):  
Mirja Möhn ◽  
Julia Camilla Bulski ◽  
Norbert Krämer ◽  
Alexander Rahman ◽  
Nelly Schulz-Weidner
Keyword(s):  
Case Reports ◽  
Treatment Options ◽  
Permanent Dentition ◽  
Amelogenesis Imperfecta ◽  
Structural Defects ◽  
Type I ◽  
Oral Rehabilitation ◽  
Self Confidence ◽  
Health Quality ◽  
Masticatory System

Amelogenesis imperfecta (AI) is defined as an interruption of enamel formation due to genetic inheritance. To prevent malfunction of the masticatory system and an unaesthetic appearance, various treatment options are described. While restoration with a compomer in the anterior region and stainless steel crowns in the posterior region is recommended for deciduous dentition, the challenges when treating such structural defects in mixed or permanent dentition are changing teeth and growing jaw, allowing only temporary restoration. The purpose of this case report is to demonstrate oral rehabilitation from mixed to permanent dentition. The dentition of a 7-year-old patient with AI type I and a 12-year-old patient with AI type II was restored under general anesthesia to improve their poor aesthetics and increase vertical dimension, which are related to problems with self-confidence and reduced oral health quality of life. These two cases show the complexity of dental care for structural anomalies of genetic origin and the challenges in rehabilitating the different phases of dentition.

scholarly journals Surgical Management of Pediatric Gastroesophageal Reflux Disease

2013 ◽  
Vol 2013 ◽  
pp. 1-8 ◽  
Author(s):  
Hope T. Jackson ◽  
Timothy D. Kane
Keyword(s):  
Gastroesophageal Reflux Disease ◽  
Gastroesophageal Reflux ◽  
Surgical Management ◽  
Reflux Disease ◽  
Clinical Presentation ◽  
Pediatric Population ◽  
Treatment Options ◽  
Failure To Thrive ◽  
Solid Diet ◽  
Esophageal Sphincter

Gastroesophageal reflux (GER) is common in the pediatric population. Most cases represent physiologic GER and as the lower esophageal sphincter (LES) matures and a solid diet is introduced, many of these patients (>65%) experience spontaneous resolution of symptoms by two years of age. Those who continue to have symptoms and develop complications such as failure to thrive, secondary respiratory disease, and others are classified as having gastroesophageal reflux disease (GERD). Goals of GERD treatment include the resolution of symptoms and prevention of complications. Treatment options to achieve these goals include dietary or behavioral modifications, pharmacologic intervention, and surgical therapy. This paper will review the clinical presentation of GERD and discuss options for surgical management and outcomes in these patients.

Non-malignant gall bladder perforation: Our experience from an institution-based retrospective analysis of 25 cases

2021 ◽  
pp. 004947552110365
Author(s):  
Abhijeet Kumar ◽  
Nirmal Prasad Shah ◽  
Narendra Pandit ◽  
Suresh Prasad Sah ◽  
Rakesh Kumar Gupta ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Gall Bladder ◽  
Clinical Presentation ◽  
Gallbladder Perforation ◽  
Type I ◽  
Computed Tomography Scan ◽  
Duration Of Hospital Stay ◽  
Symptoms And Signs ◽  
Tomography Scan ◽  
Better Than

Gallbladder perforation still continues to perplex surgeons; 25 such patients diagnosed either pre- or intra-operatively and managed at our institute over the last 10 years period were analysed. Only eight were diagnosed pre-operatively, while a large majority (17) had a wrong initial working diagnosis. Symptoms and signs were variable. No blood investigation was specific. A computed tomography scan was generally better than ultrasound in detecting the perforation. All our cases were managed operatively with no mortality and a mean duration of hospital stay of 6.8 days. Most perforations were extra-hepatic (84%) and those of Niemeier’s type I (52.2%). Because of its varied clinical presentation, gallbladder perforation is often an intra-operative diagnosis, but early intervention carries a good outcome.

Spinal artery aneurysms: clinical presentation, radiological findings and outcome

2018 ◽  
Vol 10 (7) ◽  
pp. 644-648 ◽  
Author(s):  
Leonardo Renieri ◽  
Eytan Raz ◽  
Giuseppe Lanzino ◽  
Timo Krings ◽  
Maksim Shapiro ◽  
...  
Keyword(s):  
Back Pain ◽  
Retrospective Review ◽  
Clinical Presentation ◽  
Treated Patient ◽  
Demographic Data ◽  
Treatment Options ◽  
Treatment Strategies ◽  
Imaging Characteristics ◽  
Arterial Aneurysms

Background and purposeSpinal arterial aneurysms are a rare cause of spinal subarachnoid hemorrhage (SAH). We performed a retrospective review of spinal arterial aneurysms not associated with spinal arteriovenus shunts from three institutions in order to better understand the clinical and imaging characteristics of these lesions.Materials and methodsWe performed a retrospective review of spinal arterial aneurysms managed at three North American institutions. For each patient, the following information was collected: demographic data, clinical presentation, comorbidities, imaging findings, and neurological status at the last follow-up. Treatment strategies and outcomes were reported.Results11 patients were included; 7 were women and median age was 60 years. The most common presentation was sudden back pain (81.8%). We found 3 aneurysms on the radiculomedullary artery and 8 along the radiculopial arteries. Of the 3 aneurysms on the radiculomedullary artery, 1 was treated conservatively, 1 was treated with coiling of the aneurysm and sacrifice of the radiculomedullary artery, and 1 was treated with surgical trapping. The 8 aneurysms on the radiculopial artery were treated endovascularly in 4 cases, surgically in 1 case, and conservatively in 3 cases. One surgically treated patient had a spinal subdural hematoma. There were no other complications. Mean clinical follow-up time was 20 months, and 87.5% of patients were functionally independent.ConclusionsSpinal arterial aneurysms are lesions which commonly present with sudden back pain and spinal SAH. Conservative, surgical, and endovascular treatment options are safe and effective. Long term outcomes in these patients are generally good.

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