scholarly journals Foix-Alajouanine syndrome: case report

2005 ◽  
Vol 63 (2b) ◽  
pp. 527-529 ◽  
Author(s):  
Kelly C. Bordignon ◽  
María Belén Montú ◽  
Ricardo Ramina ◽  
Walter Oleschko Arruda
Keyword(s):  
Venous Pressure ◽  
Vascular Anomaly ◽  
Definitive Diagnosis ◽  
Clinical Suspicion ◽  
Motor Deficit ◽  
Mri Findings ◽  
Av Fistula ◽  
Spinal Arteriovenous Malformation ◽  
Initial Symptoms ◽  
Leg Weakness

In a 52-year-old woman, spinal arteriovenous malformation (AVM) has been associated with what has been known as Foix-Alajouanine syndrome. The pathophysiology of the AV fistula is probably related to increased venous pressure from the AVM plus thrombotic process.The most common initial symptoms are sensory disturbance, pain and leg weakness. Definitive diagnosis of spinal AVMs requires radiographic demonstration of the vascular anomaly. Nevertheless, in this case, suggestive defects of malformations could not be seen, in contrast to the MRI findings and macroscopical and anatomical-pathological lesion. These findings rise our attention, about the need to keep in mind the clinical suspicion of AVM in cases of back pain and motor deficit, and an early surgical conduct in this situation.

scholarly journals Echocardiography with Elevated Central Venous Pressure Diagnosing Constrictive Pericarditis More Accurately Than Chest CT Scan: A Retrospective Study in 36 Cases

2018 ◽  
Vol 21 (3) ◽  
pp. 190
Author(s):  
Liwen Bao ◽  
Jiechun Huang ◽  
Fangrui Wang ◽  
Liewen Pang ◽  
Yiqing Wang ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Cardiac Function ◽  
Central Venous Pressure ◽  
Constrictive Pericarditis ◽  
Venous Pressure ◽  
Definitive Diagnosis ◽  
Central Venous ◽  
Imaging Results ◽  
Time To Diagnosis

Background: Constrictive pericarditis (CP) is defined as impaired diastolic cardiac function caused by a calcified and thickened pericardium. We assessed the clinical characteristics and time to diagnosis, as well as patient prognosis after pericardiectomy. Methods: We analyzed the records of 36 CP patients who underwent pericardiectomy at Huashan Hospital, China, between 2012 and 2015. Clinical manifestations, length of time to diagnosis, laboratory parameters, and diagnostic imaging results were examined. All patients underwent pericardiectomy, and were assessed post-operatively for quality of life and improvement of cardiac function using the Minnesota Living with Heart Failure Questionnaire (MLHFQ). Results: All patients displayed shortness of breath and polyserous effusion, as well as elevated pro B-type natriuretic peptide and thickened pericardium. Mean time between onset of symptoms and a definitive diagnosis of CP was 9.5 ± 2.1 months. Pericardiectomy was performed within one week of diagnosis. Mean central venous pressure decreased from a pre-operative 19.92 ± 6.6 mmHg to a post-operative 8.5 ± 2.7 mmHg. Within 1.5 ± 0.7 years of surgery, all patients maintained good quality of life and cardiac function, which resulted in a mean score of 0.9 ± 0.6 on the MLHFQ. Conclusion: A definitive diagnosis of CP is usually made long after the onset of symptoms. Early detection and diagnosis by echocardiography with elevated central venous pressure and early treatment by surgery are key to an improved prognosis and resumption of good cardiac function.

Abstract 14851: Under Pressure: Hemodynamics Bringing the Right "fix" to Heart Failure

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
Estefania Oliveros ◽  
Ashish A Correa ◽  
Aditya Parikh ◽  
Robert Leber ◽  
Soheila Talebi ◽  
...  
Keyword(s):  
Heart Failure ◽  
Troponin I ◽  
Heart Sound ◽  
Venous Pressure ◽  
Heart Catheterization ◽  
Av Fistula ◽  
Flow Reserve ◽  
Hemodynamic Assessment ◽  
The Right ◽  
High Output

Introduction: High-output heart failure (HF) develops in the setting of excessive cardiac output. Case Presentation: 65-year-old male with HF (EF 40%), severe right ventricular dysfunction, and emphysema presented with dyspnea and anasarca. On admission, physical examination showed a BP 97/66mmHg, heart rate 109bpm, temperature 97.2F, respiratory rate of 19rpm, 93% on 2-Liters of oxygen. Jugular venous pressure was 20 cm H20 with large V waves. The rhythm was irregular, with a loud second heart sound, audible third heart sound, parasternal heave, and left lower sternal border murmur. Lung exam demonstrated basilar crackles and prolonged expiratory phase. The abdomen was distended with a pulsatile liver and the lower extremities were cool with 3+ pitting edema. There was an audible bruit with thrill at the right groin. Laboratory testing showed sodium=123mEq/L, creatinine=1.25mg/dL, bilirubin=2.2, ALT=135U/L, AST=146u/L, troponin-I=0.097ng/mL, BNP=1528pg/mL. CT and VQ scan were negative for acute/chronic pulmonary embolism. Lower extremity Doppler ultrasound revealed a right common femoral arteriovenous (AV) fistula (Fig.1). After diuretics and milrinone, a left heart catheterization demonstrated known three vessel disease, but without limitations in instant flow reserve. Right heart catheterization demonstrated RA=15mmHg, RV=50/16mmHg, PA=50/24(34)mmHg, PCWP=11mmHg, CO=5.4L/min, PVR=4.25WU, after which the fistula was ligated. On post-op day 2, repeat hemodynamics off inotropes showed an RA=4mmHg, PA=40/18mmHg, PCWP=18 mmHg, CO=4.4L/min and normalization of end-organ function. He was maximized on GDMT. Echocardiogram 5 months later showed improvement of RV function and he was able to go back to work with minimal symptoms. Conclusion: AV fistulas can lead to high-output HF if undiagnosed. A multidisciplinary approach and comprehensive hemodynamic assessment proved essential in allowing improvement of symptoms and resulting outcomes.

Platypnoea-orthodeoxia syndrome: the importance of the patient’s posture for diagnosis

2021 ◽  
Vol 14 (6) ◽  
pp. e243210
Author(s):  
Carla Pereira Fontes ◽  
Samuel Barbosa Fonseca ◽  
Mário Santos
Keyword(s):  
Transthoracic Echocardiography ◽  
Rare Condition ◽  
Definitive Diagnosis ◽  
Clinical Suspicion ◽  
Oxygen Desaturation ◽  
Arterial Oxygen ◽  
Common Cause ◽  
Intracardiac Shunt ◽  
High Clinical Suspicion ◽  
Functional Components

Platypnoea-orthodeoxia syndrome (POS) is a rare condition characterised by the association of dyspnoea and arterial oxygen desaturation induced by standing and relieved by recumbency. The precise mechanism remains poorly understood, but it appears to involve both anatomical and functional components producing a significant right-to-left shunting under certain postural conditions. This syndrome is associated with either intracardiac or extracardiac aetiologies, and the diagnosis depends on high clinical suspicion. Intracardiac shunt is the most common cause of POS and can be identified through echocardiography with bubble study. We report the case of a patient with POS secondary to a paradoxical shunt through the patent foramen oval, whose definitive diagnosis was only possible with contrasted transthoracic echocardiography in the sitting and standing positions.

scholarly journals Two neurologic facets of CTLA4-related haploinsufficiency

2020 ◽  
Vol 7 (4) ◽  
pp. e751
Author(s):  
Xavier Ayrignac ◽  
Radjiv Goulabchand ◽  
Eric Jeziorski ◽  
Patricia Rullier ◽  
Clarissa Carra-Dallière ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Cytotoxic T Lymphocyte ◽  
Wide Spectrum ◽  
Brain Mri ◽  
White Matter Hyperintensity ◽  
Motor Deficit ◽  
Neurologic Manifestations ◽  
Combined Immunodeficiency ◽  
Mri Findings ◽  
Previous Diagnosis

ObjectiveTo describe the clinical and radiologic neurologic characteristics of patients with cytotoxic T-lymphocyte antigen-4 (CTLA4) haploinsufficiency.MethodsThree patients from 2 families had neurologic manifestations in the context of CTLA4 haploinsufficiency. Their clinical and MRI findings are presented.ResultsA 16-year-old boy with a previous diagnosis of combined immunodeficiency presented with severe recurrent episodes of headaches, motor deficit, and seizures associated with waxing and waning gadolinium-enhancing FLAIR cortical/juxtacortical hyperintensities. His sister, who also had combined immunodeficiency, had a brain MRI when she was aged 13 years due to recent headaches and transient right hemianopsia. It revealed a gadolinium-enhancing left occipital white matter hyperintensity. Another 49-year-old woman had progressive visual loss and cerebellar ataxia in the context of recurrent pulmonary infections. All 3 patients were found to have inherited CTLA4 haploinsufficiency. Patient 1's general condition and neurologic manifestations were completely controlled with abatacept (CTLA4-Ig).ConclusionsThese cases suggest that in addition to the variable clinical penetrance and wide spectrum of CTLA4 haploinsufficiency, its neurologic spectrum is broad, ranging from recurrent tumefactive lesions to progressive deficits including cerebellar ataxia and optic atrophy with leukoencephalopathy. These phenotypes must be recognized, and should lead to a complete immunologic workup, because potentially effective targeted immunotherapy exists.

SUPPURATIVE ARTHRITIS INVOLVING THE SYNCHONDROSIS OF AN OS ACROMIALE

Hand Surgery ◽  
2011 ◽  
Vol 16 (03) ◽  
pp. 319-321
Author(s):  
Amir Sadri ◽  
Khaled M. Sarraf ◽  
Giles Stafford ◽  
Jonathan Lavelle
Keyword(s):  
Shoulder Pain ◽  
Anterior Part ◽  
Definitive Diagnosis ◽  
Clinical Suspicion ◽  
High Index ◽  
Favorable Outcome ◽  
Os Acromiale ◽  
Appropriate Treatment ◽  
Early Imaging ◽  
Suppurative Arthritis

Os acromiale is an unfused epiphysis of the anterior part of the acromion occurring in approximately 8% of the population. Infection of this joint has not been previously described in the literature. We report such a case in a 59-year-old woman presenting with shoulder pain. A high index of clinical suspicion, with early imaging of the shoulder leading to prompt and definitive diagnosis, can lead to appropriate treatment and produce a favorable outcome.

Posterior-Lateral Foraminotomy as an Exclusive Operative Technique for Cervical Radiculopathy: A Review of 846 Consecutively Operated Cases

Neurosurgery ◽  
1983 ◽  
Vol 13 (5) ◽  
pp. 504-512 ◽  
Author(s):  
Charles M. Henderson ◽  
Robert G. Hennessy ◽  
Henry M. Shuey ◽  
E. Grant Shackelford
Keyword(s):  
Lumbar Disc ◽  
Operative Procedure ◽  
Venous Pressure ◽  
Air Embolism ◽  
Cervical Radiculopathy ◽  
Clinical Findings ◽  
Motor Deficit ◽  
Arm Pain ◽  
Significant Difference ◽  
The Mean

Abstract Between 1963 and 1980, one or more posterior-lateral foraminotomies were performed for simple cervical radiculopathy as the sole operative procedure for 736 patients. One hundred three patients (14%) required a second posterior procedure, but only 24 (3%) cases represented true recurrent radiculopathy. There were 13 minor complications (1.5%) and no deaths or detectable incidence of air embolism. All operations were done with the patient in the sitting position. Central venous pressure monitoring was used only infrequently. There was a 96% incidence of relief of significant arm pain and/or paresthesia and a 98% incidence of resolution of preoperatively present motor deficit. Eight hundred twenty-eight procedures (98%) were preceded by Pantopaque cervical myelography. There was a 71.5% incidence of correlation between preoperative clinical findings (both sensory and motor) and operative findings. In 13% of the cases, two spaces were thought by the operating surgeon to be equally involved by the spondylotic process. Most (91.5%) of the patients describe themselves as either “good or excellent” postoperatively. There was no significant difference postoperatively regarding results or recurrence between patients with suspected soft or hard disc protrusions and those with strictly spondylotic radiculopathy. Nor was there any statistical difference in results among the three patient population groups (“private” vs. compensation vs. liability). The mean length of time to return to work or other “normal” activities was 9.4 weeks. The mean length of follow-up time was 146 weeks (2.8 years). There was an associated incidence of significant lumbar disc and/or foraminal disease requiring operation of 33.4%.

scholarly journals Retrospective liver histomorphological analysis in dogs in instances of clinical suspicion of congenital portosystemic shunt

2019 ◽  
Vol 63 (2) ◽  
pp. 243-249 ◽  
Author(s):  
Małgorzata Sobczak-Filipiak ◽  
Józef Szarek ◽  
Iwona Badurek ◽  
Jessica Padmanabhan ◽  
Piotr Trębacz ◽  
...  
Keyword(s):  
Portal Vein ◽  
Developmental Disorders ◽  
Clinical Symptoms ◽  
Histopathological Examination ◽  
Vascular Anomaly ◽  
Clinical Suspicion ◽  
Diagnostic Process ◽  
Histopathological Analysis ◽  
Portosystemic Shunts ◽  
Vascular Connections

AbstractIntroduction: The clinical symptoms of portosystemic shunts (PSSs) and hepatic microvascular dysplasia (HMD) – portal vein hypoplasia (PVH) in dogs are similar. PSSs are abnormal vascular connections between the portal vein system and systemic veins. HMD is a very rare developmental vascular anomaly, recognisable during histopathological examination. The study aim was to assess the prevalence of HMD–PVH and hepatocellular and vascular pathologies in the liver. Material and Methods: Liver biopsies from 140 dogs (of different breeds and both sexes) arousing clinical suspicion of PSS were examined histopathologically. Results: An initial PSS diagnosis was confirmed in 125 dogs (89.29%). HMD–PVH was found in 12.32% of dogs, as an isolated disease in 9.29%, especially in Yorkshire terriers, and with extrahepatic PSS in 6.67%. Histopathological analysis of muscles around sublobular veins showed that HMD cases presented hypertrophy or hypertrophy with fibrosis. In 2.17% of all dogs with liver vascular developmental disorders calcification was visible around vessels (without correlation by degenerative changes in those vessels), suggesting prior onset of deep metabolic disorders. Clinical suspicion of PSS was also formed upon quite different pathological processes in young dogs. Conclusion: Histopathological findings diagnosed the type of vascular anomalies (PSS or HMD–PVH) or other pathological changes conclusively, therefore detailed hepatic histopathology is an indispensable component of the clinical diagnostic process.

scholarly journals 1499 The Statistical Value of Different Clinical Characteristics in Evaluation of Suspected Cauda Equina Syndrome

2021 ◽  
Vol 108 (Supplement_6) ◽  
Author(s):  
W Levitt ◽  
B Kamalakannan ◽  
Y Leung
Keyword(s):  
Back Pain ◽  
Cauda Equina Syndrome ◽  
Pain Sensitivity ◽  
Cauda Equina ◽  
Leg Pain ◽  
Statistical Association ◽  
Mri Findings ◽  
Leg Weakness ◽  
Red Flag ◽  
One Year

Abstract Introduction Cauda Equina Syndrome(CES) is a potentially disabling condition caused by compression of the thecal sac in the lumbar spine. Traditional teaching suggests red flags include back pain, sciatica, saddle anaesthesia and bladder disturbance. Current guidelines from the British Association of Spinal Surgeons recommend prompt investigation with MRI should these symptoms be present. Method A retrospective electronic case note review was undertaken from a one-year period to identify patients referred to the on call orthopaedic team with suspected CES and were investigated with MRI. Notes were reviewed for the presence of each clinical characteristic and correlated with MRI findings. Results 334 referrals underwent urgent MRI with 25 scans showing CES. Poor statistical association was observed with unilateral leg pain (sensitivity 0.28, specificity 0.48), back pain (sensitivity 0.92, specificity 0.13) and bladder dysfunction (sensitivity 0.72, specificity 0.36). Much closer statistical association was seen with bilateral leg pain (sensitivity 0.6, specificity 0.7, OR 5.03, 95% CI 2.16-11.68, p0.0002), leg weakness (sensitivity 0.68, specificity of 0.72, OR 5.35, 95% CI 2.23-12.85, p0.0002), leg sensory deficit (sensitivity 0.72, specificity 0.60, OR 3.79, 95% CI 1.54-9.36, p0.004) and altered perianal sensation (sensitivity 0.6, specificity 0.67, OR 3.03, 95% CI 1.31-6.99, p 0.009) Conclusions The diagnostic accuracy for some conventional red flag characteristics in CES is low. In our series back pain, unilateral sciatica and bladder disturbance showed low predictive value while bilateral sciatica, saddle anesthesia and lower limb sensorimotor deficits showed closer association and therefore should be closely evaluated for when reviewing such patients.

scholarly journals First Record Mutations in the Genes ASPA and ARSA Causing Leukodystrophy in Jordan

2019 ◽  
Vol 2019 ◽  
pp. 1-7 ◽  
Author(s):  
Tawfiq Froukh
Keyword(s):  
Metachromatic Leukodystrophy ◽  
Genetic Disorders ◽  
Canavan Disease ◽  
First Record ◽  
Definitive Diagnosis ◽  
Mri Findings ◽  
Whole Exome ◽  
Novel Variant ◽  
The Central Nervous System ◽  
Generation Sequencing

Leukodystrophies (LDs) are heterogeneous genetic disorders characterized by abnormal white matter in the central nervous system. Some of the LDs are progressive and often fatal. In general, LD is primarily diagnosed based on the neuroimaging; however, definitive diagnosis of the LD type is done using genetic testing such as next-generation sequencing. The aim of this study is to identify the genetic causes of LD in two independent Jordanian cases that exhibit MRI findings confirming LD with no definitive diagnosis using whole exome sequencing (WES). The most likely causative variants were identified. In one case, the homozygous pathogenic variant NM_000049.2:c.914C>A;p.Ala305Glu, which is previously reported in ClinVar, in the gene ASPA was identified causing Canavan disease. In the second case, the homozygous novel variant NM_000487.5:c.256C>G;p.Arg86Gly in the gene ARSA was identified causing metachromatic leukodystrophy. The two variants segregate in their families. The phenotypes of the two studied cases overlap with assigned diseases. The present study raises the importance of using WES to identify the precise neurodevelopmental diseases in Jordan.

scholarly journals Spinal Decompression Sickness in an Experienced Scuba Diver: A Case Report and Review of Literature

2019 ◽  
Vol 9 (4) ◽  
pp. 235-238
Author(s):  
Altaf Saadi ◽  
Emily A. Ferenczi ◽  
Haatem Reda
Keyword(s):  
Hyperbaric Oxygen ◽  
Sea Water ◽  
Decompression Sickness ◽  
Spinal Injury ◽  
Partial Recovery ◽  
Mri Findings ◽  
Leg Weakness ◽  
Magnetic Resonance Imaging Mri ◽  
Spinal Cord Decompression

Decompression sickness from diving is a rare but potentially reversible cause of spinal injury. Early treatment with hyperbaric oxygen is associated with a better neurologic outcome, making prompt recognition and management clinically important. We describe a case of a 65-year-old diver who presented with thoracic back pain and bilateral leg weakness after a 70 feet of sea water (fsw) (21 meters of sea water [msw]) dive, with no acute abnormality on spinal magnetic resonance imaging (MRI). He made a partial recovery after extended hyperbaric oxygen therapy. We discuss the epidemiology and pathophysiology of central nervous system injury in decompression sickness, as well as acute management and prognostic factors for recovery, including the role of adjunctive therapies and the implications of negative MRI. Ultimately, clinicians should make the diagnosis of spinal cord decompression sickness based primarily on clinical evaluation, not on MRI findings.

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