A case of acute severe cryptogenic organic pneumonia with secondary hemophilia / 中南大学学报(医学版)

Cryptogenic organic pneumonia (COP) refers to organic pneumonia that has not been identified a clear cause by current medical methods. A small proportion of COP can exhibit severe and progressive characteristics, while severe COP can cause systemic inflammatory storms and can be secondary to hemophilia. This article reported a case of acute severe COP secondary to hemophilia. A 67-year-old male patient was admitted to the hospital due to cough, shortness of breath, and fever. At first, he was misdiagnosed as severe pneumonia, but failed to receive anti infection treatments. Sputum pathogenetic examination and Macrogene testing of alveolar lavage fluid were performed, and no etiology was found to explain the patient's condition. The condition was gradually worsened and hemophilia occurred to explain, suggesting that acute severe COP was relevant. After receiving hormone treatment, the condition gradually relieved and the absorption of lung lesions improved. Hemophilia secondary to COP is rare, and the specific mechanism needs further study.

Diagnostic analysis of cTTE for patent foramen ovale and the value of combined NLR monitoring in predicting cryptogenic stroke / 中国医师杂志

Objective:To investigate the diagnostic value of transthoracic echocardiographic contrast-enhanced ultrasound (cTTE) in patent foramen ovale (PFO) and the value of combined neutrophil to lymphocyte ratio (NLR) in predicting cryptogenic stroke.Methods:A total of 120 suspected PFO patients admitted to the Affiliated Hospital of Jining Medical College from January 2021 to December 2021 were selected and examined by cTTE and transesophageal echocardiography (TEE) to analyze the diagnostic value of cTTE in PFO. The clinical data and cTTE parameters of PFO patients with and without cryptogenic stroke were analyzed.Results:A total of 69 patients with PFO were confirmed. Among the 69 patients, 23 patients with cryptogenic stroke and 46 patients without cryptogenic stroke were confirmed by magnetic resonance imaging (MRI). The value of cTTE in the diagnosis of PFO was high: the sensitivity, accuracy and negative predictive value of cTTE under Valsalva motion in the diagnosis of PFO were 95.65%, 91.67% and 93.62%, respectively, which were significantly higher than that of cTTE at rest (all P<0.05). The NLR, the proportion of large shunt of PFO right to left shunt (PFO-RLS), the inlet width of patent foramen ovale (PFO) and the outlet width of PFO in patients with PFO complicated with cryptogenic stroke were (3.01±0.89), 43.48%(10/23), (2.54±0.65)mm and (1.51±0.35)mm, respectively, which were significantly higher than those in patients without cryptogenic stroke (all P<0.05). Logistic regression analysis showed that NLR and the degree of PFO-RLS shunt were the influencing factors of patients with PFO complicated with cryptogenic stroke (both P<0.05). The area under the Receiver operating characteristic (ROC) curve predicted by NLR combined with PFO-RLS shunt was 0.905, which was significantly higher than that predicted by NLR and PFO-RLS shunt alone (all P<0.05). Conclusions:cTTE has a good value in the diagnosis of PFO, and cTTE combined with NLR has a certain application value in predicting PFO complicated with cryptogenic stroke.

Organizing pneumonia due to anti-synthetase syndrome: Presentation of a clinical case

Introduction: Organizing pneumonia is a rare clinico-pathological syndrome. This crypto-genic or secondary condition is of unknown origin, and may be infectious, or associated with autoimmune diseases, cancer, drugs, or radiation. Case description: The case is presented of a 52-year-old patient who was diagnosed with organizing pneumonia secondary to anti-synthetase syndrome. Discussion: It is intended to make known that not all pulmonary consolidative clinical pictures correspond to infectious processes. In this case, an organizing pneumonia secondary to anti-synthetase syndrome is documented. Despite being a disorder that is classified as an idiopathic inflammatory myopathy, it manifests as an interstitial lung disease with predominantly respiratory symptoms.

Introducción: La neumonía organizativa es un síndrome clínico-patológico poco frecuente, dentro del cual se desconoce la etiología de la denominada neumonía criptogénica o secundaria, que puede ser infecciosa o asociada con enfermedades autoinmunes, cáncer, fármacos o radiación. Descripción del caso: Se presenta el caso de una paciente de 52 arios a quien se le diagnostica neumonía organizativa secundaria a síndrome antisintetasa. Discusión: Se busca dar a conocer que no todos los cuadros clínicos de consolidación pulmonar corresponden a procesos infecciosos. En este caso se documentó una neumonía organizativa secundaria a síndrome antisintetasa, la cual a pesar de ser una patología que se cataloga como una miopatía inflamatoria idiopática, se manifestó como una enfermedad pulmonar intersticial con síntomas predominantemente respiratorios.

Patrones tomográficos de neumonía en organización. Serie de casos y revisión de la literatura / Tomographic patterns of organizing pneumonia. Case series and review

Resumen La neumonía en organización es un tipo de enfermedad pulmonar intersticial difusa que puede ser idiopática (criptogénica) o secundaria a numerosas etiologías, y se asocia con hallazgos clínicos y de laboratorio inespecíficos. Su diagnóstico y tratamiento exigen un equipo interdisciplinario, en el que las imágenes desempeñan un papel indispensable. Se presenta una serie de nueve casos, haciendo énfasis en las características clínicas y profundizando en los diversos patrones imagenológicos identificados. También se aporta una revisión de las variantes recientemente descritas.

Abstract Organizing pneumonia is a type of diffuse interstitial lung disease that can be idiopathic (cryptogenic) or secondary to numerous etiologies, and is an entity associated with nonspecific clinical and laboratory findings. Its diagnosis and treatment require an interdisciplinary team in which images play an indispensable role. The presentation of a series of nine cases is made, emphasizing the clinical characteristics and delving into the various identified imaging patterns. A review of the recently described variants is also provided.

Scanning of paroxysmal atrial fibrillation as an etiological risk factor in patients with acute ischemic stroke: prospective study

Abstract BACKGROUND: Prevention of recurrence of stroke depends on recognition of the underlying mechanism of ischemia. OBJECTIVE: To screen patients who were hospitalized with diagnosis of acute ischemic stroke in terms of atrial fibrillation (AF) with repeated Holter electrocardiography recordings. DESIGN AND SETTING: Prospective study conducted at Konya Education and Research Hospital, Turkey. METHODS: Patients with a diagnosis of acute ischemic stroke, without atrial fibrillation on electrocardiography (ECG), were evaluated. Their age, gender, histories of previous ischemic attack, occurrences of paroxysmal atrial fibrillation (PAF) and other risks were assessed during the first week after acute ischemic stroke and one month thereafter. ECG recordings were obtained from 130 patients through 24-hour ambulatory Holter. Patients without PAF attack during the first Holter were re-evaluated. RESULTS: PAF was detected through the first Holter in 33 (25.4%) out of 130 acute ischemic stroke patients. A second Holter was planned for 97 patients: 53 (54.6%) of them could not attend due to COVID-19 pandemic; while 44 (45.3%) patients had the second Holter and, among these, 4 (9.1%) had PAF. The only parameter associated with PAF was older age. Four (10.8%) of the 37 patients with PAF had also symptomatic carotid stenosis. CONCLUSIONS: Detecting the presence of PAF by screening patients with no AF in the ECG through Holter ECG examinations is valuable in terms of changing the course of the treatment. It should be kept in mind that the possibility of accompanying PAF cannot be ruled out in the presence of other factors that pose a risk of stroke.

Clinical characteristics and outcomes of patients with COVID-19 infection and acute ischemic stroke at Eka Kotebe general hospital in Addis Ababa, Ethiopia

BACKGROUND: Acute ischemic stroke has been reported to occur in a significantly higher number of COVID-19 patients as compared to healthy controls with variable proposed pathophysiologic mechanisms. To our knowledge, sufficient data regarding this subject is lacking in Ethiopia and the African continent at large. In this case series, we report the clinical characteristics and management of 5 cases with COVID-19 infection and acute ischemic stroke to shed light on the diagnostic and therapeutic challenges in resource-limited setups. METHODS: This is a case series including data collected from the medical records of 5 participants with confirmed RT-PCR positive COVID-19 infection and radiologically confirmed acute ischemic stroke, admitted at Eka Kotebe General Hospital Intensive Care Unit (ICU) in Addis Ababa, Ethiopia from June 10, 2020, to November 04, 2020. RESULTS: Cryptogenic stroke was documented in 4/5 participants included in this series with the most common vascular risk factors identified for stroke being hypertension and diabetes mellitus. The median time from onset of COVID-19 symptoms to the identification of stroke was 07 days. Two fifth of the participants in this series died during their ICU admission with the immediate cause of deaths reported to be related to the severe COVID-19 infection but not stroke. CONCLUSION: Cryptogenic stroke was documented in 4/5 patients in this series despite the presence of vascular risk factors for other stroke subtypes. The overall prevalence, subtypes, and outcomes of stroke in COVID-19 patients in Ethiopia and the African continent as a whole needs additional research to elucidate the local burden of the disease and define the predominant pathophysiologic mechanisms for stroke in COVID-19 in the region

Deficiencia de lipasa ácida lisosomal, una patología infrecuente / Lysosomal acid lipase deficiency, a rare pathology

Resumen El déficit de lipasa ácida lisosomal es una enfermedad genética poco prevalente, con alta morbimortalidad en niños y adultos. Se caracteriza por alteración del metabolismo lipídico que genera depósitos de ésteres de colesterol y triglicéridos en el organismo. La presentación clínica depende de la actividad enzimática. Se debe sospechar en pacientes con alteraciones lipídicas o alteraciones hepáticas después de descartar otros diagnósticos. Actualmente existe la opción de utilizar enzima recombinante, la cual puede mejorar los parámetros lipídicos y hepáticos, así como detener la progresión de la enfermedad. Es imperioso realizar el diagnóstico oportuno para iniciar de forma temprana el tratamiento específico, con el fin de prevenir la morbimortalidad. Se llevó a cabo revisión de la literatura en torno del déficit de lipasa ácida lisosomal, para orientar acerca de su fisiopatología, manifestaciones clínicas, diagnóstico y tratamiento.

Abstract Lysosomal acid lipase deficiency is a genetic disease with a low prevalence and high morbidity and mortality in children and adults. It is characterized by an alteration of lipid metabolism, which generates cholesterol and triglyceride esters deposits in the body. Its clinical presentation depends on enzymatic activity. This condition should be suspected in patients with lipid or liver alterations after ruling out other diagnoses. Currently, there is the option of using a recombinant enzyme, which can improve lipid and liver parameters, as well as disease progression. Establishing a timely diagnosis in order to initiate specific treatment early is imperative for the prevention of morbidity and mortality. The purpose of this work is to perform a review of the literature about lysosomal acid lipase deficiency and to guide about its pathophysiology, clinical manifestations, diagnosis and treatment.

Signo del halo invertido como manifestación inhabitual de neumonía organizada criptogénica: reporte de un caso / Reversed halo sign as an unusual manifestation of cryptogenic organized pneumonia: report of one case

We report a 64 years old female admitted with fever, cough, dyspnea and lung opacities in the chest X ray. A chest tomography scan (CTS) showed multiple-bilateral ring-shaped opacities and the reversed halo sign (RHS). The patient did not improve with antimicrobial therapy (AT). Infection and rheumatologic causes were excluded, therefore Cryptogenic organizing pneumonia (COP) was suspected with compatible percutaneous biopsy. Systemic steroids were started with a good clinical response. The patient was discharged four weeks after admission in good general conditions and practically no lungs opacities.

The prevalence and associated factors of viral hepatitis and cryptogenic related hepatocellular carcinoma at King Abdulaziz Medical city-Riyadh

Background: Worldwide, viral hepatitis is the major risk factor for HCC with hepatitis B (HBV) being more than hepatitis C (HCV). Saudi Arabia is one of the endemic areas of viral hepatitis. Cryptogenic HCC is thought to arias from unknown causes of liver cancers. Thus, the purpose of this study was to find the prevalence of viral and cryptogenic HCC in King Abdulaziz Medical City-Riyadh (KAMC-R).Methods: A retrospective chart review was performed for all HCC patients diagnosed between 2010 to 2017 at KAMC-R. Information regarding age, gender, comorbidity, alcohol consumption, serology tests, liver enzymes, body mass index, model for end-stage liver disease score, alpha-fetoprotein and Child-Turcotte-Pugh score were included. The Chi-square test was used to determine the differences between categorical data. A p<0.05 was considered statistically significant.Results: Total of 294 patients with HCC charts were reviewed. HCV and HBV were found in 42.85% and 20.74% of the patients, respectively. Co-infection with HBV and HCV were reported in 1.7% whereas cryptogenic HCC was found in 32.65% of the patients. High BMI and DLP were noticeably higher in cryptogenic group (p=0.045 and p=0.022 respectively). Multiple lesions were noticed more in HCV group whereas single lesion was more in the cryptogenic group (p=0.0343). Also, large lesions (>5 cm) were remarkably found more in cryptogenic HCC whereas small lesions were more in HCV group (p=0.006).Conclusions: Hepatitis C was the major risk factor associated with HCC, followed by Cryptogenic HCC. High BMI and DLP were common features of cryptogenic HCC.

Latest diagnosis and treatment strategy for patent foramen ovale and cryptogenic stroke / 中国实用内科杂志

The diagnosis and treatment of cryptogenic stroke(CS) has always been the direction of clinical researchers, and its relationship with patent foramen ovale(PFO) has become a research hotspot in recent years. It is essential to correctly understand its cause and carry out targeted treatment. This article discusses the relationship between PFO and CS and the latest diagnosis and treatment strategies, aiming to standardize and guide PFO closure, so that the true CS patients with PFO can benefit from the closure treatment.

The clinical thinking of diagnosis and treatment of cryptogenic cirrhosis / 医学研究生学报

Cryptogenic cirrhosis (CC), cirrhosis of unknown cause, is common in clinic. With the improvement of the level of diagnosis and the diversification of the diagnosis and treatment, the incidence of CC is gradually declining. In the process of diagnosis and treatment, perfect clinical thinking can help clinicians to analyze and evaluate the existing clinical data, and it is expected to further improve the diagnostic rate of CC. In this paper, the clinical thinking of CC diagnosis and treatment is expounded from the aspects of disease spectrum thinking, anatomy thinking and macroscopic micro thinking.

Simplified percutaneous closure of patent foramen ovale and atrial septal defect with use of plain fluoroscopy: Single operator experience in 110 consecutive patients

Objective Percutaneous closure of patent foramen ovale (PFO) and atrial septal defect (ASD) is routinely performed under general anesthesia or deep sedation and use of transesophageal (TEE) or intracardiac echocardiography, incurring longer duration and higher cost. We have used a simplified, economical, fluoroscopy-only guided approach with local anesthesia, and herein report our data. Methods The study includes 112 procedures in 110 patients with PFO (n = 75) or ASD (n = 35), with use of an Amplatzer occluder, heparin and prophylactic antibiotics. Balloon sizing guided ASD-device selection. All patients received aspirin and clopidogrel for 6 months, when they all underwent TEE. Results All PFOs but one (98.7%) and all (100%) ASDs were successfully closed with only one complication (local pseudoaneurysm). At the 6-month TEE, there was no residual shunt in PFO patients, but 2 ASD patients had residual shunts. During long-term (4.3-year) follow-up, no stroke recurrence in PFO patients, and no other problems were encountered. Among 54 patients suffering from migraine, symptom relief or resolution was reported by 45 (83.3%) patients. Conclusion Percutaneous placement of an Amplatzer occluder was safe and effective with use of local anesthesia and fluoroscopy alone. There were no recurrent strokes over >4 years. Migraine relief was reported by >80% of patients.

Research progress in treatment of cryptogenic stroke associated with patent foramen ovale / 解放军医学杂志

Patent foramen ovale (PFO) is a common congenital heart disease that can cause cryptogenic stroke through paradoxical embolization.For patients with PFO combined with cryptogenic stroke,whether anticoagulant therapy is superior to antiplatelet therapy in the prevention of recurrent stroke? And whether PFO closure can significantly reduce the risk of stroke recurrence compared with medical therapy alone? All those raised the clinical problems to be solved urgently.The advances in treatment of cryptogenic stroke associated with PFO are herewith summarized in present paper by reviewing randomized trials,meta-analyses and the guidelines or expert consensus about PFO and cryptogenic stroke.

The clinical significance of plasma D-dimer levels in cryptogenic stroke with occult systemic malignancy patients / 中国神经精神疾病杂志

Objective This study aimed to investigate the clinical characteristics of cryptogenic stroke as the first manifestation of occult systemic malignancy (OSM) and to determine whether plasma D-dimer levels and lesions in multiple vascular regions could predict occult systemic malignancy in patients with cryptogenic stroke. Methods Data from 83 patients including 9 patients with OSM and 74 patients without OSM were extracted from the stroke database of Beijing Shijitan Hospital. Clinical variables were analyzed between cryptogenic stroke patients with OSM and without OSM. The relationshiop between plasma D-dimer levels or lesions in multiple vascular regions and OSM were analyzed by multiple logistic regression analysis. Results Compare to patients without OSM, patients with OSM was older (66.8± 7.5 vs.56.4±15.7,P=0.004)and had lower hemoglobin levels (127.9±19.8 vs.143.6±17.7,P=0.015),higher conut score [3(1,3) vs. 1(0,2), P=0.011], higher plasma D-dimer levels (77.7% vs. 13.5%, P<0.001) and more common lesions in multiple vascular regions(100% vs.23.0%, P<0.001).Multiple logistic regression analysis revealed that high plasma D-dimer levels are independent risk factors for OSM (OR=26.250,95%CI:3.041-226.604,P=0.003).Conclusions Patients with OSM are elderly people and have poorer nutritional status, higher plasma D-dimer levels and more common lesions in multiple vascular regions. High plasma D-dimer levels can be useful to predict OSM in patients with cryptogenic stroke at earlier stages.

Correlation between RoPE score and right-to-left shunt severity in patients with cryptogenic stroke / 西安交通大学学报(医学版)

Objective To compare the clinical features between cryptogenic stoke(CS)with and without right-to-left shunt(RLS)so as to determine whether shunt severity determined by control-enhanced transcranial Doppler(c-TCD)is correlated with the risk of paradoxical embolism(RoPE)score.Methods We made a retrospective analysis of clinical characteristics of 138 CS patients with and without RLS admitted to our department between January 2014 and November 2016.For patients documented by c-TCD,we evaluated whether there was a correlation between RLS severity and RoPE score. RLS was diagnosed by c-TCD and contrast-enhanced transthoracic echocardiography(c-TTE).We compared every modality for detecting RLS with and without Valsalva maneuver.For patients found with RLS in c-TCD and c-TTE,we judged whether there was an agreement in grading RLS between two modalities.Results For patients with CS,shunt severity by c-TCD was positively correlated with RoPE score(r= 0.26,P= 0.05).The clinical features were different between CS patients with RLS and without RLS.Compared with the positive results of c-TCD and c-TTE at rest,the positive rate was higher in Valsalva maneuver,respectively(P＜0.01).There was a moderate agreement between shunt grades identified by the two techniques(Kappa=0.428).Conclusion There is a positive correlation between RoPE score and RLS severity determined by c-TCD in CS patients.Valsalva maneuver can significantly increase the positive rate of RLS detected by c-TCD and c-TTE.

Clinical characteristics of patients with cryptogenic stroke and patent foramen ovale / 第二军医大学学报

Objective To investigate the clinical characteristics of patients with cryptogenic stroke and patent foramen ovale (PFO). Methods The clinical features, imaging findings and therapeutic outcomes of 51 patients with cryptogenic stroke and PFO, who received treatment in Stroke Center of Changhai Hospital of Navy Medical University (Second Military Medical University) between Sep. 2013 and Jan. 2018, were retrospectively analyzed. Results Of the 51 cases, 41 were male and 10 were female; and the mean age was (53.92±14.83) years (ranging from 21 to 84 years). Diffusion weighted imaging (DWI) showed that 46 patients developed new infarction including 20 cases (43.5%) of single lesion and 26 cases (56.5%) of multiple lesions, of which 15 cases (57.7%) involved single arterial territory and 11 cases (42.3%) involved two or more arterial territories (4 cases of bilateral anterior circulation, and 7 cases of both the anterior and posterior circulations). Thirty-seven patients underwent contrast-enhanced transcranial Doppler (cTCD) examination, which showed that 31 cases (83.8%) had microbubble sign (air microbubble emboli of 4 cases looked like raindrops or curtains). In 50 patients undergoing transesophageal echocardiography (TEE) examination, 49 cases (98.0%) were accompanied with PFO. Nine patients received intravenous thrombolysis. In secondary prevention, 18 patients received single antiplatelet therapy, 12 dual antiplatelet therapy, 8 anticoagulation therapy, and 13 PFO closure+single antiplatelet therapy. One patient with single antiplatelet therapy had recurrent ischemic stroke, 2 patients with dual antiplatelet therapy had recurrent ischemic stroke, and the patients with percutaneous closure of PFO had no recurrent stroke. Conclusion The infarction of cryptogenic stroke with PFO involves single or multiple arterial territories, cTCD and TEE have high positive diagnosis rate for PFO, and the patients with selective antithrombotic therapy and PFO closure have a low risk of recurrent stroke.

Foramen oval permeable, un diagnóstico posible en manos del neurólogo. Descripción de caso / Patent Foramen Ovale, A Possible Diagnosis From The Neurologist. Case Report

Resumen Introducción: En pacientes con ictus isquémico criptogénico se ha descrito una alta prevalencia de alteraciones del septum auricular relacionadas con un riesgo aumentado de presentar recurrencia. Objetivo: Presentar la historia clínica de un paciente joven con antecedente de diabetes mellitus e ictus isquémico en el que no se demuestran alteraciones arteriales. A partir de la realización de un estudio de Doppler trasncraneal con test de burbujas se diagnostica un foramen oval permeable. Conclusión: En el paciente que describimos, la realización de un estudio de DTC como parte de la evaluación inicial ayudó a precisar la etiología. La demostración de un foramen ovale permeable tiene implicaciones en la prevención secundaria del ictus.

Abstract Introduction: A high prevalence of atrial septal defects is reported in patients with cryptogenic ischemic stroke, also related to an increase of the risk of recurrence. Objective: To report case of a young patient with a history of diabetes mellitus and ischemic stroke without arterial changes proven. A transcraneal Doppler study with a bubble test helped to diagnose a patent foramen ovale. Conclusion: As part of the initial evaluation of this patient, a TCD study has helped to clarify the stroke etiology. The demonstration of a patent foramen ovale has implications for the secondary prevention of stroke.

Síndrome de May Thurner con accidente cerebrovascular isquémico y foramen oval permeable / May Thurner syndrome with ischemic cerebrovascular accident and permeable oval foramen

La asociación de accidente cerebral isquémico con foramen oval permeable, no ha sido extensamente estudiada, y frecuentemente el sitio de origen de la embolia no se detecta a pesar de los estudios de rutina. Se presenta el caso de un paciente joven con accidente cerebral vascular isquémico y foramen oval permeable en el contexto de síndrome de May Thurner. El síndrome de May Thurner es una entidad poco estudiada en la literatura médica y además se lo ha relacionado poco con accidente cerebral vascular isquémico, pero en pacientes con foramen oval permeable sin evidencia de la fuente embolígena, es interesante descartarlo como causa de embolia paradojal.

The association of cerebral ischemic attack with patent foramen ovale has not been extensively studied, and frequently the site of origin of embolism is not detected despite routine studies. We present the case of a young patient with ischemic stroke and permeable oval foramen in the context of May Thurner syndrome. The May Thurner syndrome is an entity scarcely studied in the medical literature and it has also been infrequently related to ischemic vascular cerebral accident, but in patients with permeable oval foramen without evidence of the emboligen source, it is interesting to rule it out as a cause of paradoxical embolism.

Mutaciones heterocigóticas en el gen de la α -galactosidasa A en dos pacientes con ACV criptogénico / α -galactosidase A Heterozygous mutations gene in two patients with cryptogenic stroke

RESUMEN La enfermedad de Fabry es una enfermedad genética con herencia ligada al cromosoma X recesiva, en la que se encuentra afectada la actividad de la enzima lisosomal a-galactosidasa A (GLA), con acumulación de diferentes metabolitos como la globotriaosilceramida (GL 3) y la globotriaosilceramida deacilada (liso GL 3), responsables de la disfunción multiorgánica y de las diversas manifestaciones fenotípicas, comprometiendo principalmente: sistema nervioso, piel tracto gastrointestinal, corazón y riñón. La manifestación neurológica más temprana es el dolor neuropático, sin embargo se pueden encontrar síntomas gastrointestinales, en piel y ojo, mientras que el daño renal y cardiaco se presentan como manifestaciones tardías al igual que el ataque cerebrovascular (ACV) que se presenta en la adultez. A continuación presentamos dos casos clínicos de pacientes con ACV criptogénico con mutaciones hetero-cigotas en el gen de la a-galactosidasa A

SUMMARY Fabry's disease is a recessive X linked genetic disorder in which lysosomal enzyme alpha-galactosidase A activity is affected, with accumulation of different kind of metabolites such as globotriaosylceramide and the deacylated globotriaosylceramide which are responsible for the multi-organ dysfunction that is seen in this disease, and also of the several phenotypic manifestations, mainly in nervous system, skin, gastrointestinal tract, heart and kidney. Earlier neurological manifestation is neuropathic pain could finding also gastrointestinal tract, skin and eye complaints while Cardiac and renal damage present later like as cerebrovascular disease which presents in adulthood. Two clinical cases of young patients with cryptogenic stroke with heterozygous mutations for Fabry's disease are presenting below.