scholarly journals Lung Involvement in Gaucher Disease

Author(s):  
Mahnaz PejmanSani ◽  
Keivan GohariMoghadam ◽  
Mahbube Ebrahimpur

Introduction: Gaucher Disease is an autosomal recessive lysosomal storage disease. Pulmonary involvement in Gaucher Disease is rare and often seen in the severe form of the disease with the worst outcome. Case Presentation: A 30-year-old man and known case of Gaucher Disease presented to our clinic with history of progressive dyspnea since 8 months ago. Pulmonary function test showed restrictive pattern. Chest CT scan revealed diffuse bilateral interlobular septal thickening and small interstitial nodules with ground glass opacities in lower lobes. Conclusion: Patients with Gaucher Disease that present with progressive dyspnea may have a manifestation of interstitial or alveolar lung disease.

2022 ◽  
Vol 71 (6) ◽  
pp. 2247-48
Author(s):  
Muhammad Mohsin Sajjad ◽  
Sidra Yousaf

Metachromatic Leukodystrophy is a lysosomal storage autosomal recessive disease characterized by arylsulphatase enzyme deficiency, with central and peripheral demyelination. We report a case of a 15-year-old girl with 6 months history of progressive muscular weakness, poor school performance, gradual memory loss and gait disturbance. Neurological examination was grossly normal, except mild muscle wastage in both upper and lower limbs and slight reduction of power globally in all limbs. Routine bloods including a lumbar puncture was normal and the diagnosis of metachromatic leukodystrophy was made on the findings of magnetic resonance imaging (MRI) brain.


2021 ◽  
Vol 26 (1) ◽  
Author(s):  
Sérgio Henrique Bastos Damous ◽  
Jones Pessoa dos Santos Junior ◽  
Álvaro Vicente Alvarez Pezzano ◽  
Mohamad Abdul Majid Chams ◽  
Nathaly Haritov ◽  
...  

Abstract Background Pneumomediastinum is a rare complication of COVID-19 pneumonia, which may or may not be associated with invasive ventilatory support. Therefore, the report and findings associated with its evolution can be of great contribution in the management of this unknown disease. Case presentation Here, we present a series of four patients with severe pneumomediastinum requiring intensive care unit. These patients developed pneumomediastinum before or during orotracheal intubation (OTI) or without OTI. The four patients were three men and one woman with a mean age of 60.5 years (48–74 years). No patients had a known history of lung disease or traumatic events, except for one patient who had a history of smoking, but who was without parenchymal disease. All intubations were performed without complications. No cases of pneumomediastinum occurred after tracheostomy, and none of the patients had tomographic or bronchoscopic evidence of tracheal injury. Although the pneumomediastinum observed in our cases was apparently not related to a violation of the aerodigestive track, this complication was associated with a worse prognosis. Conclusion Pneumomediastinum is a rare complication of COVID-19 pneumonia, and the most likely etiopathogenesis is severe pulmonary involvement, which may or may not be associated with invasive ventilatory support. Future studies with a greater number of cases should elucidate the relationship of pneumomediastinum to a probable prognostic factor.


2017 ◽  
Vol 27 (7) ◽  
pp. 1426-1429 ◽  
Author(s):  
Yılmaz Kör ◽  
Mehmet Keskin ◽  
Osman Başpınar

AbstractGaucher disease is an autosomal-recessive lysosomal storage disease characterised by the accumulation of glucocerebroside in macrophages; it is caused by mutations in glucocerebrosidase gene-1 in many organ tissues such as the liver, spleen, and bone marrow. Its different clinical subtypes, according to the presence and severity of neurological symptoms, are as follows: type I, non-neuronopathic (95%); type II, acute neuronopathic; and type III, chronic neuronopathic. Type IIIC is a rare subgroup characterised by cardiovascular involvement as well as eye-movement disorders and late-onset neurological symptoms. In such cases, homozygous D409H is the most frequently detected mutation. In this article, we report the case of a patient, aged 15 years and 8 months, with complaints of syncope and a diagnosis of type IIIC Gaucher disease.


2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Afshin Rakhsha ◽  
Zahra Mahboubi-Fooladi ◽  
Anya Jafari

Abstract Background The outbreak of coronavirus disease 2019 (COVID-19) started in December 2020, and is a global problem now. There are several sets of established data regarding computed tomography (CT) findings in COVID-19 pneumonia with many differential diagnoses. During the early days of the pandemic, there was little data regarding lung CT features of COVID-19 in a cancer patient. In this paper, we described a rare case of simultaneous presentation of COVID-19 with pulmonary metastasis. Case presentation A Persian patient with a history of chondrosarcoma presented to our clinic during the COVID-19 pandemic with a new-onset cough. He had experienced no recurrence during previous follow-up visits. Chest CT scan revealed numerous bilateral small peripheral and perilymphatic pulmonary nodules, unilateral ground-glass patch, and nodular interlobular septal thickening. Biopsy of the pulmonary nodules established pulmonary metastasis of chondrosarcoma origin, and pharyngeal reverse transcription polymerase chain reaction (RT-PCR) was positive for COVID-19. Conclusion Pulmonary metastasis should be considered as a differential diagnosis of COVID-19 features in cancer patients in the pandemic era.


2021 ◽  
Vol 73 (1) ◽  
Author(s):  
Saeed Ghodsi ◽  
Sara Taghi ◽  
Zahra Alizadeh-Sani ◽  
Yaser Jenab ◽  
Zahra Hosseini ◽  
...  

Abstract Background Multiple intra-atrial thrombi are found rarely except in the presence of prosthetic valves, intra-cardiac devices, structural connections like foramen ovale and thrombophilia. Case presentation We reported acute thrombosis formation in right and left atrial appendages of a 66-year old man admitted due to progressive dyspnea since 7 days earlier. He had a history of prior laryngeal Squamous Cell Carcinoma, apical hypertrophic cardiomyopathy (HCM), and atrial fibrillation (AF). Infection with COVID-19 was confirmed thereafter. Cardiac Magnetic Resonance Imaging (CMR) suggested the diagnosis of atrial clot superior to neoplasm. After surgical removal of the thrombi, symptoms as well as imaging features of pneumonia were resolved. Conclusions We should focus on different presentations and complications of systemic inflammation especially in the setting of COVID-19 infection. Although risk factors of thrombosis are present in some of these patients, rapid progression as well as unusual types of involvement may indicate to a new trigger.


2017 ◽  
Vol 45 ◽  
pp. 5
Author(s):  
Vinícius Bentivóglio Costa Silva ◽  
Simone Tostes de Oliveira Stedile ◽  
Renato Silva De Sousa ◽  
Marlos Gonçalves Sousa

Background: Leptospirosis is probably the most widespread and prevalent zoonosis in the world, being classified as an emerging infectious disease for humans and dogs. Sporadically, dogs may present with cough and dyspnea, indicative of pulmonary involvement, associated with interstitial pneumonia and pulmonary hemorrhage with alveolar consolidation. Such changes stem from pulmonary haemorrhagic syndrome, which has emerged as a fatal complication, being documented in some areas in Europe and little described in North America. In this sense, the present study aims to report pulmonary hemorrhagic syndrome in a dog with leptospirosis.Case: A dog with no defined breed, aged 45 days, weighing 2.2 kg, with a history of apathy, anorexia, jaundice, hematochezia and vocalisation with a two day evolution was seen. Physical examination revealed a rectal temperature of 37.2°C, icteric mucosa, capillary filling time of two seconds, respiratory rate of 80 movements per minute and heart rate of 140 beats per minute, dehydration rate estimated at 8%, prostration, adequate body score, normal cardiac sounds and clean lung fields, in addition to petechiae in the abdominal region, whose palpation evidenced the presence of fluid in intestinal loops. The blood sample sent to the macroscopic serum agglutination was reagent for the serovar Icterohaemorragiae, titration of 200. Blood count revealed leukocytosis due to neutrophilia, with left-sided deviation, eosinopenia, presence of rare hypersegmentated neutrophils, rare toxic neutrophils, mild cytoplasmic basophilia and rare reactive lymphocytes. Platelet estimation demonstrated thrombocytopenia. No haemoparasites were seen. Regarding the biochemical evaluation, there were changes in liver enzymes and markers of renal failure. Fluid therapy was used with 0.9% NaCl solution, 5 mg/ kg doxycycline intravenously every 12 h and nasogastric probe for administration of nutritional support. One day after the initial evaluation, hemoptysis and diffuse crackling occurred in pulmonary lobes on auscultation. In the radiograph of the chest, pulmonary fields were characterized by a diffuse interstitial bronchial pattern and a focal area, located in the left caudal lobe, with opacification tending to the alveolar pattern. Due to pulmonary alterations, the animal presented respiratory arrest and evolved to death. During necropsy, the macroscopic evaluation revealed a pinkish coloration pattern, with multifocal reddish areas with coalescent interspersed in the parenchyma and hypocrepitation. Regarding the morphology, multifocal hemorrhagic pneumonia was observed, focally extensive, moderate to severe.Discussion: Recently, pulmonary haemorrhagic syndrome has emerged as a severe form of leptospirosis in many species, including humans and dogs. Patients may develop fulminant pulmonary haemorrhage and result in a high mortality rate. Physiopathogenesis is poorly understood, however, it is believed that there is a multifactorial pathogenesis involving factors related to both pathogen and host, such as immunological mechanisms and coagulopathies. Studies in humans have shown a better evolution after the use of cyclophosphamide, but the benefits of this therapy have not yet been determined in dogs. Therefore, pulmonary haemorrhagic syndrome should be considered in patients with leptospirosis who show respiratory changes, due to the severity of the clinical signs and the high lethality associated with this clinical condition.


Gaucher disease is the most common lysosomal storage disease. It is marked by deficient glucocerebrosidase enzyme activity, leading to elective accumulation of its substrate in the lysosomes of macrophages. Macrophages are most often deposited in the liver, spleen and bone marrow, creating typical symptomatology in these organs. It is a genetic disorder with autosomal recessive inheritance pattern. The extent of the damage and severity of the symptoms increase in proportion to the genetic damage in the culprit gene, GBA1. As a result, the symptoms and course of the disease may range from mild to quite acute, with potential death of the patient at a young age. Case: Patient, 29, was diagnosed with Gaucher disease type 1 and underwent enzyme replacement therapy, with satisfactory response. Along with the common symptoms of the disease, he had also developed the rare Erlenmeyer flask deformity.


US Neurology ◽  
2018 ◽  
Vol 14 (2) ◽  
pp. 108 ◽  
Author(s):  
Mukesh Dube ◽  
Akshay Navalkishor Lakhotia ◽  
Vaibhav Yadav ◽  
Rahul Jain ◽  
◽  
...  

Sporadic hemiplegic migraine (SHM) is a subtype of hemiplegic migraine, characterized by episodes of migraine with a reversible motor aura, without a positive family history, and is a mimicker of an atypical severe form of migraine, stroke, epilepsy, multiple sclerosis, metabolic disorders, or conversion disorder.Case presentation:We present the case of a young 28-year-old female, who had a history of recurrent reversible attacks of headache with sensory aura accompanied with left hemiparesis for the past 5 years, with no positive family history of similar symptoms. The work-up ruled out differential diagnoses and genetic work-up found a novelSCN1Agene missense variation in exon 26 (c.4855A>G; p.Met1619Val) in a case of SHM. She was discharged on flunarizine for prophylaxis.Conclusions:We describe, for the first time, a case of SHM with a mutation in theSCN1Agene.


Author(s):  
Dylan Vellas ◽  
Baptiste Gramont ◽  
Rémi Grange ◽  
Pascal Cathébras

Type 1 Gaucher disease (GD) is a rare autosomal recessive lysosomal storage disorder caused by deficient activity of beta-glucocerebrosidase, leading to accumulation of its substrate (glucosylceramide) in macrophages of the reticuloendothelial system, which are then referred to as Gaucher cells. The most frequent symptoms are asthenia, spleen and liver enlargement, bone abnormalities and cytopenia due to bone marrow infiltration. Lung involvement in GD is a rare finding, and it is unclear whether it may regress under enzyme replacement therapy (ERT) or substrate reduction therapy (SRT). Here we report a case of type 1 GD recently diagnosed in an elderly patient complicated by infiltrative lung disease, which responded to ERT.


2021 ◽  
Author(s):  
Fatemeh Jahanshahi ◽  
Sam Zeraatian Nejad Davani ◽  
Amirhossein Parsaei

Abstract Background Cardiac metastasis with origin of gastric adenocarcinoma is extremely rare. This type of metastasis tends to involve the pericardium through lymphatic seeding. Currently, no reports of solitary tumor emboli to the heart cavity with possible transvenous pathway of seeding has been made. Due to initial dyspnea and accompanying symptoms, cardiac tumor embli may be mistaken with covid-19 infection. Case presentation: A sixty-year-old female with known inoperable diffuse gastric adenocarcinoma receiving chemotherapy from eight months ago, presented to hospital with progressive dyspnea. Other sign and symptoms included chest pain, hypotension, tachycardia and muffled heart sounds. The patients had no fever or other common covid-19 infection symptoms. The RT-PCR for Covid-19 RNA was negative. Initial chest CT-scan showed no sign of infection. A transesophageal echocardiography was performed and revealed a > 6cm vermiform mass free-floating in the right atrium protruding to the tricuspid valve and right ventricle compatible with emboli. By urgent cardiac surgery the mass was removed. The postoperative course was uneventful. The pathology results confirmed a tumor emboli originated from gastric carcinoma. Whole body PET-scan shoed no evidence of other metastasis. Conclusions However cardiac metastasis are extremely rare, in gastric cancer cases with cardiopulmonary manifestation should be considered as a probable differential diagnoses. Regarding to ongoing covid-19 pandemic the present case misdiagnosed with coronavirus infection.


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