scholarly journals Ocular findings in Fabry disease in Colombian patients

Biomédica ◽  
2019 ◽  
Vol 39 (3) ◽  
pp. 434-439 ◽  
Author(s):  
Katherine Rothstein ◽  
Jubby M. Gálvez ◽  
Ángela M. Gutiérrez ◽  
Laura Rico ◽  
Eveling Criollo ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Multidisciplinary Treatment ◽  
Case Series ◽  
Clinical History ◽  
Diagnosis And Treatment ◽  
Ophthalmologic Examination ◽  
Alpha Galactosidase ◽  
Prompt Diagnosis ◽  
Ocular Signs

Fabry disease is a rare X-linked disorder caused by an alpha-galactosidase enzyme deficiency, which leads to a progressive lysosomal glycosphingolipids accumulation, mainly globotriaosylceramide, in multiple organism tissues including the eye.This case series describes the first ophthalmological Colombian report of Fabry disease highlighting the importance of ocular signs as markers of the disease, useful in diagnosis and treatment to avoid long-term complications that lead to a morbi-mortality increment.We describe five cases of Fabry disease from Bogotá, Colombia, including a complete clinical history, ophthalmologic, optometric examination, and photographs. We found that all patients had refractive defects and that in all cases corneal verticillata pattern was found. Four patients presented with posterior capsule lens brown-beige deposits and four patients had conjunctival and retinal tortuous vessels. A complete ophthalmologic examination is important for prompt diagnosis, which is key to starting a multidisciplinary treatment and reducing morbi-mortality.

scholarly journals Diverse phenotypic expression associated with the same genetic variant in female heterozygote patients of Anderson–Fabry disease: a case series

2021 ◽  
Vol 5 (2) ◽  
Author(s):  
Daisuke Tomioka ◽  
Koichi Kato ◽  
Tomoya Ozawa ◽  
Kenji Kodama ◽  
Hiroaki Takahashi ◽  
...  
Keyword(s):  
Coronary Angiography ◽  
Cardiac Hypertrophy ◽  
Fabry Disease ◽  
Genetic Variant ◽  
Case Series ◽  
Provocation Test ◽  
Woman Patient ◽  
Female Patients ◽  
Patient Number ◽  
Alpha Galactosidase

Abstract Background Anderson–Fabry disease (AFD) is an X-linked lysosomal storage disorder resulting from a mutation of alpha-galactosidase A gene (GLA), causing deficiency in alpha-galactosidase activity. The enzyme deficit can lead to storage of globotriaosylceramide in various organs including heart. Studies suggest that vasospastic angina (VSA) is associated with AFD. Case summary This clinical case series aimed to present two female patients with AFD, including progressive cardiac involvement: a 50-year-old woman (patient number 1) and a 39-year-old woman (patient number 2) who are siblings with a male AFD patient harbouring p. Arg342Glu missense variant in alpha-galactosidase A gene (GLA), who suffered VSA and subsequent ventricular fibrillation. Enzymatic tests and genetic analysis confirmed AFD in both female patients and histological tests revealed globotriaosylceramide deposits in their hearts. In patient number 1, a 12-lead electrocardiography and transthoracic echocardiography revealed cardiac hypertrophy. Coronary angiography revealed no organic coronary artery stenosis and vasospasms was induced by spasm provocation test. In patient number 2, no signs of cardiac hypertrophy were found, and coronary arteries had no organic stenosis with negative spasm provocation test. Both patients received enalapril therapy and enzyme replacement therapy (ERT). Discussion Different phenotype of AFD was occurred even with the same genetic variant in female heterozygote patients. The duration of exposing accumulation of Gb3 might affect cardiac hypertrophy and vasospasms. Coronary angiography with acetylcholine provocation test should be considered in female AFD patient, especially in case with cardiac hypertrophy.

Conjunctival lymphangiectasia associated with classic Fabry disease

2017 ◽  
Vol 102 (1) ◽  
pp. 54-58 ◽  
Author(s):  
Melanie D Sivley ◽  
Eric L Wallace ◽  
David G Warnock ◽  
William J Benjamin
Keyword(s):  
Fabry Disease ◽  
Dry Eye ◽  
Imaging System ◽  
University Of Alabama ◽  
Multisystem Disease ◽  
Enzyme Replacement ◽  
Clinical Presentations ◽  
Alpha Galactosidase ◽  
The University

BackgroundFabry disease (FD) is a treatable multisystem disease caused by a defect in the alpha-galactosidase gene. Ocular signs of FD, including corneal verticillata, are among the earliest diagnostic findings. Conjunctival lymphangiectasia (CL) has not previously been associated with FD.MethodsWe examined the eyes of a cohort of 13 adult patients, eight men and five women, with documented classic FD, all treated with enzyme replacement therapy (ERT) at the University of Alabama at Birmingham between February 2014 and April 2015. The average age was 48 years with a range of 35–55 years for men and 21–71 years for women. The mean duration of ERT was 8.4 years (men 8.9 years, women 7.6 years) with a range of 4–14 years. Classical Fabry mutations included Q283X, R227X, W236X and W277X. A high resolution Haag-Streit BQ-900 slit lamp with EyeCap imaging system was used to record conjunctival images.ResultsCL was observed in 11 of the 13 patients (85%) despite long-term ERT. Clinical presentations included single cysts, beaded dilatations and areas of conjunctival oedema. Lesions were located within 6 mm of the corneal limbus. Ten of the 13 subjects (77%) had Fabry-related cataracts and all 13 demonstrated bilateral corneal verticillata. Twelve of the 13 patients had evidence of dry eye, 9 of whom were symptomatic, and 10 had peripheral lymphoedema.ConclusionCL represents a common but under-recognised ocular manifestation of FD, which persists despite ERT, and is often accompanied by peripheral lymphoedema and dry eye syndrome.

scholarly journals Long-Term Effect of Antibodies against Infused Alpha-Galactosidase A in Fabry Disease on Plasma and Urinary (lyso)Gb3 Reduction and Treatment Outcome

PLoS ONE ◽  
2012 ◽  
Vol 7 (10) ◽  
pp. e47805 ◽  
Author(s):  
Saskia M. Rombach ◽  
Johannes M. F. G. Aerts ◽  
Ben J. H. M. Poorthuis ◽  
Johanna E. M. Groener ◽  
Wilma Donker-Koopman ◽  
...  
Keyword(s):  
Treatment Outcome ◽  
Fabry Disease ◽  
Term Effect ◽  
Long Term Effect ◽  
Alpha Galactosidase

scholarly journals Deep brain stimulation reduces (nocturnal) dyskinetic exacerbations in patients with ADCY5 mutation: a case series

2020 ◽  
Vol 267 (12) ◽  
pp. 3624-3631 ◽  
Author(s):  
Ana Luísa de Almeida Marcelino ◽  
Tina Mainka ◽  
Patricia Krause ◽  
Werner Poewe ◽  
Christos Ganos ◽  
...  
Keyword(s):  
Deep Brain Stimulation ◽  
Movement Disorder ◽  
Brain Stimulation ◽  
Rating Scale ◽  
Involuntary Movement ◽  
Case Series ◽  
Clinical History ◽  
Long Term Effects ◽  
Deep Brain

AbstractMutations in the ADCY5 gene can cause a complex hyperkinetic movement disorder. Episodic exacerbations of dyskinesia are a particularly disturbing symptom as they occur predominantly during night and interrupt sleep. We present the clinical short- and long-term effects of pallidal deep brain stimulation (DBS) in three patients with a confirmed pathogenic ADCY5 mutation. Patients were implanted with bilateral pallidal DBS at the age of 34, 20 and 13 years. Medical records were reviewed for clinical history. Pre- and postoperative video files were assessed using the “Abnormal Involuntary Movement Scale” (AIMS) as well as the motor part of the “Burke Fahn Marsden Dystonia Rating Scale” (BFMDRS). All patients reported subjective general improvement ranging from 40 to 60%, especially the reduction of nocturnal episodic dyskinesias (80–90%). Objective scales revealed only a mild decrease of involuntary movements in all and reduced dystonia in one patient. DBS-induced effects were sustained up to 13 years after implantation. We demonstrate that treatment with pallidal DBS was effective in reducing nocturnal dyskinetic exacerbations in patients with ADCY5-related movement disorder, which was sustained over the long term.

Autopsy Findings of Heterozygous Fabry Disease with the Severe Phenotype: A Case Report

Nephron ◽  
2021 ◽  
pp. 1-6
Author(s):  
Maki Hiratsuka ◽  
Katsushi Koyama ◽  
Makoto Ito ◽  
Ryo Sato ◽  
Kodai Suzuki ◽  
...  
Keyword(s):  
Renal Failure ◽  
Fabry Disease ◽  
Cerebral Hemorrhage ◽  
Lysosomal Storage ◽  
Severe Phenotype ◽  
Autopsy Findings ◽  
Enzyme Replacement ◽  
Alpha Galactosidase ◽  
End Stage

Fabry disease (FD) is an inherited X-linked lysosomal storage disorder, with hemizygous males being more severely affected than heterozygous females. Herein, we report a rare case of FD in a heterozygous female with a severe phenotype. The patient had obesity and hyperlipidemia and had her first cerebral infarction at the age of 33 years. She underwent renal biopsy and was diagnosed with FD with morphological features of focal segmental glomerulosclerosis nephropathy at the age of 34 years. Her leukocyte alpha-galactosidase A activity was 2.3 Agal/U (normal: >20 Agal/U), and genetic analysis revealed the presence of the classical phenotype. Enzyme replacement therapy (ERT) was initiated at the age of 35 years; however, peritoneal dialysis owing to end-stage renal failure occurred at the age of 37 years. The patient died of a cerebral hemorrhage at the age of 44 years. Her Mainz Severity Score Index at the time of death was 48/76, suggestive of the severe phenotype. Autopsy findings revealed remarkable globotriaosylceramide accumulation on electron microscopy, particularly in the major organs and their vascular smooth muscle cells. Regarding the vertebral arteries which sourced the cerebral hemorrhage, the effects of FD-induced vascular thickening and long-term renal failure-induced atherosclerosis were confirmed. Furthermore, the patient’s vascular sclerosis was modified with acquired factors such as lifestyle-related disease associated with obesity. We recommend intensified treatment for metabolic factors simultaneous with ERT to help in delaying the progression of FD.

scholarly journals Case Series of Pott’s Spine Diagnosed by ZN Stain and BacTec MGIT in a Tertiary Care Hospital

2019 ◽  
Vol 17 (1) ◽  
pp. 47-50
Author(s):  
Avinash Kumar ◽  
P. Das
Keyword(s):  
High Frequency ◽  
Extrapulmonary Tuberculosis ◽  
Spinal Tuberculosis ◽  
Tertiary Care ◽  
Case Series ◽  
Clinical History ◽  
Care Hospital ◽  
Mgit Culture ◽  
Hiv Negative

Introduction: Pott’s spine is a destructive form of tuberculosis and accounts for approximately half of all cases of musculoskeletal tuberculosis. Spinal Tuberculosis is most often missed due to inadequate sample and lack of clinical history. Most of the Extrapulmonary tuberculosis (EPTB) can be diagnosed by Ziehl Nelson stain (ZN) only, when clinically suspected samples are adequate and optimally stained. We are reporting four case series of spinal tuberculosis diagnosed by ZN stain and confirmed by Bactec MGIT Culture. Material & Methods: These four clinically suspected spinal biopsis were received for ZN stain and MTB culture by MGIT. Results: All the four spinal biopsies were found positive by ZN stain as well as by BacTec MGIT.All the four cases were HIV negative. ESR and CRP of all four cases were raised. Discussion & Conclusion: Spinal tuberculosis can be easily diagnosed by ZN stain in resource constraint lab. Despite its common occurrence and the high frequency of long-term morbidity, there are no straight forward guidelines for the diagnosis and treatment of spinal tuberculosis. Early diagnosis and prompt treatment is necessary to prevent permanent neurological disability and to minimize spinal deformity.

Force Plate Analysis of Dogs with Bilateral Hip Dysplasia Treated with a Unilateral Triple Pelvic Osteotomy: A Long-term Review of Cases

1998 ◽  
Vol 11 (02) ◽  
pp. 85-93 ◽  
Author(s):  
Joanne R. Cockshutt ◽  
H. Dobson ◽  
C. W. Miller ◽  
D. L. Holmberg ◽  
Connie L. Taves ◽  
...  
Keyword(s):  
Gait Analysis ◽  
Hip Dysplasia ◽  
Weight Bearing ◽  
Force Plate ◽  
Case Series ◽  
Pelvic Osteotomy ◽  
Vertical Force ◽  
Long Term Outcome ◽  
Case Series Study

SummaryA retrospective case series study was done to determine the long-term outcome of operations upon dogs treated for canine hip dysplasia by means of a triple pelvic osteotomy (TPO). Twentyfour dogs with bilateral hip dysplasia, that received a unilateral TPO between January 1988 and June 1995, were re-examined at the Ontario Veterinary College. The assessment included physical, orthopedic and lameness examinations, standard blood work, pelvic radiographs and force plate gait analysis. They were compared to bilaterally dysplastic dogs that had not been treated, and also to normal dogs. Force plate data analysis demonstrated a significant increase in peak vertical force (PVF) and mean vertical force over stance (MVF) in the limb that underwent surgical correction by means of a TPO, when compared to the unoperated hip. It was determined that performing a unilateral TPO on a young dysplastic dog resulted in greater forces and weight bearing being projected through the TPO corrected limb when compared to the unoperated limb.Dogs with bilateral hip dysplasia treated with a unilateral triple pelvic osteotomy (TPO) were assessed by force plate gait analysis, radiographs and orthopedic examination. There was a significant increase in hip Norberg angles over time, although degenerative changes did progress. Limbs that had been operated upon had significantly greater peak and mean ground reaction forces than limbs that had not received an operation.

Síndrome da Anca de Ressalto

2018 ◽  
Vol 9 (1) ◽  
pp. 8
Author(s):  
Bernardo Almeida
Keyword(s):  
Surgical Treatment ◽  
Hip Joint ◽  
Scientific Literature ◽  
Therapeutic Targets ◽  
Clinical History ◽  
Disease Diagnosis ◽  
Diagnosis And Treatment ◽  
Snapping Hip ◽  
Predominant Symptom ◽  
Snapping Hip Syndrome

Snapping hip syndrome is a condition in which the predominant symptom is the snapping feelingaround the hip joint caused by a dynamic impingement between muscles or tendons and boneprominences. The etiology of the snapping hip types and consequently the therapeutic targets havebeen subjects of discussion and controversy along the years. A careful clinical history and physicalexamination is frequently enough for this disease diagnosis. Treatment is typically conservative,however when it is not successful surgical treatment is indicated, consisting on the snapping muscleor tendons lengthening. The authors review in this paper the current scientific literature about functionalanatomy, physiopathology, symptoms, diagnosis and treatment of snapping hip.

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