P092 Infantile osteopetrosis: a case report Traduction en Anglais

Rheumatology ◽  
2021 ◽  
Vol 60 (Supplement_5) ◽  
Author(s):  
A Sakhi ◽  
R Scholastique ◽  
N Moussali ◽  
K Bouayed
Keyword(s):  
Case Report ◽  
Complete Blood Count ◽  
Genetic Disorder ◽  
Ossicular Chain ◽  
Marrow Transplant ◽  
Osteoclastic Resorption ◽  
Normocytic Anaemia ◽  
Orthopedic Care ◽  
Life Threatening ◽  
Duct Stenosis

Abstract Background Infantile osteopetrosis is a rare genetic disorder characterized by increased bone density due to defective osteoclastic resorption. Case report We report the case of a 6 years old girl, born of a consanguineous marriage, hospitalized in our department for bone deformations and visual disturbances. On clinical examination, there was conjunctival pallor, thoracic deformity, genu-valgum and dentigenesis disorder as well as nystagmus and severe loss of visual acuity. The complete blood count showed regenerative normochromic normocytic anaemia as well as thrombocytopenia. Assessment for infectious disorders was negative. The skeletal X-ray revealed diffuse osteocondensation of the skeleton. The CT scan of the rock bones of cranial bases revealed bilateral segmental stenosis of the facial canal with densification of the ossicular chain and thickening of the stapes. Cranio-orbital MRI revealed bilateral optic duct stenosis with atrophy of the optic nerves and chiasma. The diagnosis of osteopetrosis was retained according to this set of clinical and radiological arguments. Unfortunately, the genetic study could not be performed. Histocompatible bone marrow transplant may be curative but was not available for our patient. Genetic counseling was offered for the family as well as dental and orthopedic care. Conclusion Infantile osteopetrosis is a rare but serious pathology that can have severe functional repercussion and even be life-threatening, requiring early diagnosis and management.

scholarly journals A Rare and Fatal Complication of a Self-Limiting Infection: A Case Report on Dengue Associated Hemophagocytic Lymphohistiocytosis

2019 ◽  
Vol 30 (2) ◽  
pp. 93-95
Author(s):  
Alvin Oliver Payus ◽  
Cheong Lei Wah ◽  
Syahrul Sazliyana Shaharir
Keyword(s):  
Case Report ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Autosomal Recessive ◽  
De Novo ◽  
Medical Condition ◽  
Early Recognition ◽  
Genetic Disorder ◽  
Intravenous Methylprednisolone ◽  
Appropriate Treatment ◽  
Life Threatening

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening medical condition characterized by hyperphagocytosis secondary to an inappropriate over-activation of macrophages and lymphocytes that driven by excessive cytokines production which resulted in cellular destructions. It can arise de novo as a result of an autosomal recessive genetic disorder, or in the background of an infection, malignancy or autoimmune disease. Dengue fever is one of the uncommon causes of infection related secondary HLH. Here, we present a case of a Dengue associated HLH which was successfully treated with intravenous methylprednisolone and immunoglobulin G. In conclusion, the purpose of this case report is to illustrate the importance of early recognition and prompt initiation of the appropriate treatment for HLH suspected patient whom otherwise has high mortality rate. Bangladesh J Medicine July 2019; 30(2) : 93-95

scholarly journals Hereditary angioedema: the challenges of cross-border family investigation and treatment

2020 ◽  
Vol 13 (4) ◽  
pp. e231906
Author(s):  
Anna Trier Heiberg Brix ◽  
Trine Mehlbye Svensson ◽  
Malin Sandberg ◽  
Anette Bygum
Keyword(s):  
Case Report ◽  
Family History ◽  
Hereditary Angioedema ◽  
Genetic Disorder ◽  
Upper Airway ◽  
Index Patient ◽  
Cross Border ◽  
The Family ◽  
Life Threatening ◽  
Family Investigation

Hereditary angioedema (HAE) is a rare genetic disorder characterised by recurrent swellings involving subcutaneous and submucosal tissue that can be potentially life threatening in cases involving the upper airway. In this case report, we present a Syrian refugee family with HAE who have lived in Denmark since 2014. The index patient is an 8-year-old girl diagnosed with HAE after being hospitalised in Denmark with an angioedema attack. Her younger sister and father were diagnosed later, following investigation of the family. Exploring the family history, deaths due to suffocation were described in previous generations and other family members based in Sweden, Germany, Turkey, Saudi Arabia, USA and Syria could also potentially be affected. This highlights the need for a cross-border effort to diagnose and treat this inherited disorder.

Presentation of Gall Stone Ileus as Gut Obstruction

JMS SKIMS ◽  
2019 ◽  
Vol 21 (2) ◽  
pp. 117-119
Author(s):  
Munir Ahmad Wani ◽  
Mubarak Ahmad Shan ◽  
Syed Muzamil Andrabi ◽  
Ajaz Ahmad Malik
Keyword(s):  
Abdominal Pain ◽  
Case Report ◽  
Ct Scan ◽  
Bowel Obstruction ◽  
Emergency Surgery ◽  
Gallstone Ileus ◽  
Gall Stone ◽  
Life Threatening ◽  
Life Threatening Complication ◽  
Gall Stone Ileus

Gallstone ileus is an uncommon and often life-threatening complication of cholelithiasis. In this case report, we discuss a difficult diagnostic case of gallstone ileus presenting as small gut obstruction with ischemia. A 56-year-old female presented with abdominal pain and vomiting. A CT scan was performed and showed an evolving bowel obstruction with features of gut ischemia with pneumobilia although no frank hyper density suggestive of a gallstone was noted. The patient underwent emergency surgery and a 60 mm obstructing calculus was removed from the patient's jejunum, with a formal tube cholecystostomy. JMS 2018: 21 (2):117-119

Laron syndrome – A case Report

JMS SKIMS ◽  
2017 ◽  
Vol 20 (2) ◽  
pp. 104-106
Author(s):  
Javaid Ahmad Bhat ◽  
Moomin Hussain Bhat ◽  
Hilal Bhat ◽  
Mona Sood ◽  
Shariq Rashid Masoodi
Keyword(s):  
Growth Hormone ◽  
Case Report ◽  
Hormone Receptor ◽  
Growth Hormone Receptor ◽  
Genetic Disorder ◽  
Female Child ◽  
Receptor Signaling ◽  
Laron Syndrome ◽  
Rare Genetic Disorder ◽  
Igf I

Background : Laron & colleagues (1966) reported a rare genetic disorder in Israliei Jewish sublings which was characterized by insensitivity to growth hormone due to abnormality in growth hormone receptor or post receptor signaling pathway.Case Report: We hereby report a case of a 5 year old female child who presented to us with features similar to Laron syndrome. The diagnosis was made & confirmed by various Lab. investigations like low IGF-I levels and managed accordingly. JMS 2017; 20 (2):104-106  

Anesthesia in Carvajal syndrome; the first case report

2020 ◽  
Vol 24 (1) ◽  
pp. 105-107
Author(s):  
Sedighe Shahhosseini ◽  
Reza Aminnejad ◽  
Amir Shafa ◽  
Mehrdad Memarzade
Keyword(s):  
Intensive Care ◽  
Case Report ◽  
Surgical Resection ◽  
Genetic Disorder ◽  
Anesthetic Technique ◽  
Close Monitoring ◽  
Anesthesia Management ◽  
Rare Genetic Disorder ◽  
First Case ◽  
Anesthetic Considerations

Carvajal syndrome is a rare genetic disorder. Patients reporting for surgery pose some difficulties in anesthesia management. In this case report we present the case of a 12-year-old boy, who was a known case of Carvajal syndrome, referred for surgical resection of perianal condyloma. Close monitoring of hemodynamic status is the mainstay of anesthetic considerations in such patients. As in any other challenging scenario, it should be kept in mind that ‘there is no safest anesthetic agent, nor the safest anesthetic technique; there is only the safest anesthesiologist’. Citation: Shahhosseini S, Aminnejad R, Shafa A, Memarzadeh M. Anesthesia in Carvajal syndrome; the first case report. Anaesth pain intensive care 2020;24(1):___ DOI: https://doi.org/10.35975/apic.v24i1.

Burkitt lymphoma of the nasopharynx causing life-threatening airway obstruction: A case report

2021 ◽  
Vol 42 (4) ◽  
pp. 102977
Author(s):  
Alexander N. Goel ◽  
Andrey Filimonov ◽  
Julie Teruya-Feldstein ◽  
Christian Salib ◽  
Joseph J. Rousso ◽  
...  
Keyword(s):  
Case Report ◽  
Airway Obstruction ◽  
Burkitt Lymphoma ◽  
Life Threatening

scholarly journals Thermal burns in electroconvulsive therapy

2021 ◽  
pp. 201010582110310
Author(s):  
Ernest Weisheng Ho ◽  
Eng Leonard ◽  
Lee Tih-Shih ◽  
Gregory James Meredith
Keyword(s):  
Case Report ◽  
Mood Disorders ◽  
Electroconvulsive Therapy ◽  
Ignition Source ◽  
Thermal Burns ◽  
High Impedance ◽  
Temporal Placement ◽  
Close Proximity ◽  
Life Threatening

Electroconvulsive therapy (ECT) is effective for mood disorders and schizophrenia. Thermal burns, while rare, are potentially sight and life threatening. The three elements necessary for a fire are often in close proximity during a session: an oxidiser (oxygen), an ignition source (faulty electrodes, poor contact with skin producing a spark) and fuel (hair, residual alcohol cleanser). This case report describes one such incident when a patient sustained a burn during ECT, with poor contact of electrode pad with skin, high impedance and an oxygen-rich environment possibly contributing. Given that ECT is conducted relatively frequently (once every 2–3 days) in a usual regimen, we make recommendations for safe application of electrode pads for temporal placement ECT.

scholarly journals Asymptomatic mediastinal extra-adrenal paraganglioma as a cause of sudden death: a case Report

2019 ◽  
Vol 14 (1) ◽  
pp. 564-567
Author(s):  
Qiancheng Xu ◽  
Yingya Cao ◽  
Hongzhen Yin ◽  
Rongrong Wu ◽  
Tao Yu ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Case Report ◽  
Respiratory Failure ◽  
Pressure Drop ◽  
Thoracic Cavity ◽  
Severe Hypotension ◽  
Life Threatening ◽  
History Of ◽  
Posterior Mediastinal ◽  
Extra Adrenal Paraganglioma

AbstractA 23-year-old female patient was referred for treatment of a posterior mediastinal tumour. There was no history of hypertension or headache and no other complaints. The patient’s blood pressure increased to 210/125 mmHg after surgically manipulating the tumour, subsequently reversing to severe hypotension (25/15 mmHg) immediately after the tumour was removed. The life-threatening and irreversible blood pressure drop was difficult to treat with fluid and vasopressors, and the patient ultimately died of cardio-respiratory failure. Asymptomatic paraganglioma can be non-functional but can also be fatal. For any lump in the thoracic cavity, paraganglioma should be ruled out.

scholarly journals Perforation of the atrial wall and aortic sinus after closure of an atrial septal defect with an Atriasept occluder: a case report

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Zai-Qiang Zhang ◽  
Jia-Wang Ding
Keyword(s):  
Case Report ◽  
Atrial Septal Defect ◽  
Septal Defect ◽  
Emergency Operation ◽  
Atrial Wall ◽  
Aortic Sinus ◽  
Case Presentation ◽  
Lethal Complications ◽  
Life Threatening

Abstract Background While the perforation of the atrial wall and aortic sinus after closure of an atrial septal defect (ASD) is rare, it’s life-threatening, with rapid progress and high mortality. To the best of our knowledge, 21 similar cases have been reported since 1976. Case presentation We report a 16-year-old male whose atrial septal defect (ASD) was closed using a 12-mm Amplatzer septal occluder (ASO). Atrial wall and aortic sinus perforation occurred 3 months after transcatheter closure, and the patient was discharged after emergency operation. He was discharged on the 12th postoperative day in good overall condition. Conclusions With this case report, we want to illustrate that although percutaneous closure of ASD is regarded as a routine procedure, we should not forget the potentially lethal complications, especially cardiac erosion. Therefore, we should carefully evaluate the risk of erosion before surgery, and careful lifelong follow-up is needed.

scholarly journals Death of unknown cause? Post-mortem diagnosis of fulminant course of an EBV-associated secondary hemophagocytic lymphohistiocytosis

2021 ◽  
Author(s):  
Josia Fauser ◽  
Stefan Köck ◽  
Eberhard Gunsilius ◽  
Andreas Chott ◽  
Andreas Peer ◽  
...  
Keyword(s):  
Immune Response ◽  
Case Report ◽  
Macrophage Activation ◽  
Post Mortem ◽  
Life Threatening ◽  
Appropriate Therapy ◽  
Diagnostic Work ◽  
Work Up ◽  
Diagnostic Work Up ◽  
Secondary Hemophagocytic Lymphohistiocytosis

SummaryHLH is a life-threatening disease, which is characterized by a dysregulated immune response with uncontrolled T cell and macrophage activation. The often fulminant course of the disease needs a fast diagnostic work-up to initiate as soon as possible the appropriate therapy. We present herein the case of a 71-year-old patient with rapidly progressive hyperinflammatory syndrome, which post mortem resulted in the diagnosis of EBV-associated HLH. With this case report, we intend to highlight the relevance of the HScore in the diagnosis of HLH, to create a greater awareness for EBV as a trigger of HLH, and to demonstrate the importance of treating EBV-associated HLH as early as possible.

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