scholarly journals Retinoblastoma and mosaic 13q deletion: a case report

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Pablo Gargallo ◽  
Silvestre Oltra ◽  
Julia Balaguer ◽  
Honorio Barranco ◽  
Yania Yáñez ◽  
...  
Keyword(s):  
Molecular Data ◽  
Clinical Suspicion ◽  
Deletion Syndrome ◽  
Mild Mosaic ◽  
Chromosomal Band ◽  
Case Presentation ◽  
Molecular Events ◽  
High Clinical Suspicion ◽  
The Right ◽  
13Q Deletion

Abstract Background Patients with 13q-syndrome are at risk of retinoblastoma when the RB1 gene, located in the chromosomal band 13q14.2, is deleted. This syndrome is frequently associated with congenital malformations and developmental delay, although these signs could be mild. Mosaic 13q-deletion patients have been previously reported in the literature; their phenotype is variable, and they may not be recognized. Case presentation Retinoblastoma diagnosed in a child with 13q-mosaicism confirmed in blood, oral mucosa, healthy retina and retinoblastoma. A second RB1 hit is present exclusively in the retinoblastoma sample (RB1 c.958C>T p.Arg320Ter). Other detected molecular events in retinoblastoma are 6p12.3pter gain and 6q25.3qter loss. Clinical examination is unremarkable except for clinodactyly of the right fifth finger. Discussion and conclusions We describe a case of mosaic 13q deletion syndrome affected by retinoblastoma. Molecular data obtained from the tumor analysis are similar to previous data available about this malignancy. High clinical suspicion is essential for an adequate diagnosis of mosaic cases.

scholarly journals Giant dermoid cyst mimicking posterior fossa tumors in a child: A Case Report and Review of the Literature

2020 ◽  
Vol 2 (2(May-August)) ◽  
pp. e452020
Author(s):  
Leopoldo Mandic Ferreira Furtado ◽  
José Aloysio da Costa Val Filho ◽  
Bruno Lacerda Sandes ◽  
Plínio Duarte Mendes ◽  
Patrícia Salomé Gouvea Braga
Keyword(s):  
Case Report ◽  
Dermoid Cyst ◽  
Clinical Suspicion ◽  
Review Of The Literature ◽  
Benign Lesions ◽  
Posterior Fossa Tumors ◽  
Case Presentation ◽  
High Clinical Suspicion ◽  
Neuroimaging Data ◽  
Epidemiological Characteristics

Introduction: Intracranial dermoid cysts are rare, congenital and, benign lesions. The etiology of these lesions is related to an embryonic defect during neurulation. Case presentation: The present study describes a case of a 3-year-old girl with a giant cerebellar dermoid cyst, which initially manifested as hydrocephalus. Discussion: We discuss its epidemiological characteristics as well as diagnostic and therapeutic management. The combination of high clinical suspicion, anamnesis, thorough physical examination, and adequate interpretation of neuroimaging data is crucial for the early diagnosis and timely therapeutic intervention for such cysts. Conclusion: Surgical approach involving complete lesion resection considerably improves prognosis.

scholarly journals Primary Lymphangioma of the Palatine Tonsil in a 9-Year-Old Boy: A Case Presentation and Literature Review

2016 ◽  
Vol 2016 ◽  
pp. 1-3
Author(s):  
Eleftheria Iliadou ◽  
Nektarios Papapetropoulos ◽  
Eleftherios Karamatzanis ◽  
Panagiotis Saravakos ◽  
Konstantinos Saravakos
Keyword(s):  
Literature Review ◽  
Histological Examination ◽  
Current Literature ◽  
Short Review ◽  
Clinical Suspicion ◽  
Palatine Tonsil ◽  
Benign Lesions ◽  
Case Presentation ◽  
The Right ◽  
Made In

Primary lymphangiomas or lymphangiomatous polyps of the palatine tonsil are rare benign lesions that are described infrequently in the literature. The majority of the published cases concern adults. We report a case of a lymphangiomatous lesion of the right palatine tonsil of a 9-year-old boy. Our clinical suspicion was confirmed by the histological examination after tonsillectomy and the diagnosis of primary lymphangioma of the tonsil was made. In this case we discuss the clinical and histopathological features of this lesion and present a short review of the current literature.

scholarly journals An ovarian torsion in a 2-year-old girl: a case report

2020 ◽  
Vol 14 (1) ◽  
Author(s):  
Mawanane Hewa Aruna Devapriya De Silva ◽  
Padmini Kolombage ◽  
Sembakutti Kasthuri
Keyword(s):  
Abdominal Pain ◽  
Clinical Suspicion ◽  
Ovarian Torsion ◽  
Sri Lankan ◽  
Case Presentation ◽  
Abdominal Symptoms ◽  
Surgical Emergencies ◽  
High Clinical Suspicion ◽  
Ligamentous Attachment ◽  
Prompt Diagnosis

Abstract Background Abdominal pain is one of the most common complaints by patients in the emergency department. Diarrhea, constipation, and urinary tract infection are the commonest etiologies among these patients, but there are surgical emergencies, such as appendicitis and volvulus of the intestine, which are less common. Torsion of the ovary is rarer than all of the above conditions. Ovarian torsion occurs following the twisting of the ovary on its ligamentous attachment, possibly with a cyst, leading to the impediment of blood flow. Prompt diagnosis with a high clinical suspicion is essential to salvage the ovaries and to prevent complications, including death. Case presentation Here, we present a case of ovarian torsion in a 2-year-old Sri Lankan girl who presented with nonspecific abdominal symptoms after being symptomatically treated twice by her general practitioners for 3 days. Following biochemical and radiological investigations, she was diagnosed with a twisted necrotic ovarian torsion and underwent laparoscopic right-sided oophorectomy. Conclusions Finding the etiology of a child with abdominal pain is challenging, especially because of the limited history, examination findings, the difficulty in carrying out radiological investigations, and the poor specificity of the results compared with adults. This is a case presentation and a brief discussion about the dilemmas and difficulties in the diagnosis and treatment of ovarian torsion in young children.

scholarly journals Ceftriaxone Induced Toxic Epidermal Necrolysis

JMS SKIMS ◽  
2018 ◽  
Vol 21 (1) ◽  
pp. 51-53
Author(s):  
Surjeet Singh ◽  
Munir Wani ◽  
Altaf Rasool
Keyword(s):  
Inguinal Hernia ◽  
Mortality Rate ◽  
Toxic Epidermal Necrolysis ◽  
Treatment Guidelines ◽  
Postoperative Management ◽  
Clinical Suspicion ◽  
Bilateral Inguinal Hernia ◽  
Case Presentation ◽  
High Clinical Suspicion ◽  
Life Threatening

Introduction: toxic epidermal necrolysis is a life-threatening exfoliative disorder with a high mortality rate Case presentation: we present a 65-year-old Kashmiri male patient who was admitted for recurrent bilateral inguinal hernia, and developed ceftriaxone induced toxic epidermal necrolysis during postoperative period when he was administered antibiotics during postoperative management. Conclusion: toxic epidermal necrolysis is an exfoliative disorder which is mostly fatal. High clinical suspicion, prompt recognition, immediate withdrawal of suspected agent and initiation of supportive care are mandatory for these patients, where optimal treatment guidelines are still unavailable. JMS 2018;21(1):51-53

Respiratory decompensation due to COVID-19 requiring postpartum extracorporeal membrane oxygenation

2021 ◽  
Vol 10 (1) ◽  
Author(s):  
Stephanie F. Willson ◽  
Richard DuBois ◽  
Briana Short ◽  
Cara Agerstrand ◽  
Daniel Skupski ◽  
...  
Keyword(s):  
Intensive Care ◽  
Extracorporeal Membrane Oxygenation ◽  
Management Strategy ◽  
Care Management ◽  
Clinical Suspicion ◽  
Optimal Management ◽  
Case Presentation ◽  
Severe Morbidity ◽  
Intensive Care Management ◽  
High Clinical Suspicion

Abstract Objectives The Coronavirus disease 2019 (COVID-19) pandemic has rapidly spread since its emergence in December 2019, and has been associated with severe morbidity and mortality. This report includes an in-depth discussion on the unique challenges that the obstetrical population provides when considering optimal management strategy. Case presentation We describe our approach to a preterm patient with high clinical suspicion for COVID-19 whose condition turned critical in the postpartum state. Conclusions Differences in physiology during pregnancy, and goals for reducing both maternal and fetal risks, provide challenges when considering intensive care management, delivery timing, and method of delivery.

scholarly journals Scrub Typhus Case Report; Acute Febrile Illness in a Young Lady

2018 ◽  
Vol 3 (4) ◽  
Keyword(s):  
Early Diagnosis ◽  
Andhra Pradesh ◽  
Scrub Typhus ◽  
Febrile Illness ◽  
Detailed Examination ◽  
Clinical Suspicion ◽  
Acute Febrile Illness ◽  
High Clinical Suspicion ◽  
History Of ◽  
The Right

We are reporting a case of young Indian lady with history of recent travel to India, presented with acute febrile illness. Initially she was treated with antibiotics with diagnosis of sepsis but she did not respond. Thorough investigations were done to find out the cause of her illness but all the workup was negative. Later on detailed examination revealed an eschar on the right thigh. Based upon the fact that she has a history of recent travel to Andhra Pradesh that is endemic for scrub typhus, with the presence of eschar on the right thigh, empirical treatment with doxycycline was started. Patient responded very well to the treatment and was discharged home. High clinical suspicion of scrub typhus is necessary for early diagnosis and treatment in patients coming from endemic area. Presence of eschar is pathognomic but its absence does not make the disease unlikely. Early diagnosis is associated with better outcomes.

Ischemic colitis of the right colon after triathlon: The importance of high clinical suspicion

2021 ◽  
Vol 44 (8) ◽  
pp. 565-566
Author(s):  
María Carmen García Gavilán ◽  
Francisco Morales Alcázar ◽  
Cristina Montes Aragón ◽  
Andrés Manuel Sánchez Cantos
Keyword(s):  
Ischemic Colitis ◽  
Clinical Suspicion ◽  
Right Colon ◽  
High Clinical Suspicion ◽  
The Right

A Rare Case of Tuberculous Prostatitis

2016 ◽  
Vol 1 (2) ◽  
pp. 33
Author(s):  
Nurul Yaqeen Mohd Esa ◽  
Mohammad Hanafiah ◽  
Marymol Koshy ◽  
Hilmi Abdullah ◽  
Ahmad Izuanuddin Ismail ◽  
...  
Keyword(s):  
Rare Case ◽  
Correct Diagnosis ◽  
Immunocompetent Patient ◽  
Clinical Suspicion ◽  
Tuberculosis Infection ◽  
Advanced Age ◽  
Immunocompromised Patients ◽  
Prostatic Biopsy ◽  
High Clinical Suspicion

Tuberculous prostatitis is an uncommon form of tuberculosis infection. It is commonly seen in immunocompromised patients and in those of middle or advanced age. The diagnosis is often not straight forward due to the nature of its presentation. We report a case of tuberculous prostatitis in a young, healthy and immunocompetent patient, who initially presented with respiratory features, followed by episodes of seizures and testicular swelling. He was finally diagnosed with tuberculous prostatitis after prostatic biopsy. This case illustrates that in a high TB prevalence environment, when symptoms warrant, there should be a high clinical suspicion coupled with a thorough approach in order to arrive at a correct diagnosis of TB prostatitis.

Haemolytic Anaemia: A Diagnostic Dilemma

2018 ◽  
Vol 2 (01) ◽  
pp. 29-31
Author(s):  
Md. Rezaul Karim Chowdhury ◽  
Mohammad Quamrul Hasan ◽  
Md. Haroon Ur Rashid
Keyword(s):  
Haemolytic Anaemia ◽  
Clinical Suspicion ◽  
Diagnostic Dilemma ◽  
High Clinical Suspicion ◽  
Immune Haemolytic Anaemia

It is sometime difficult to find out the cause of haemolysis in haemolytic anaemia due to inconclusive results of investigation. Diagnosis of immune haemolytic anaemia is often difficult when Coomb’s test is negative. Here we present such a case of fourteen years old girl who presented with haemolytic anaemia with negative Coomb’s test. Due to high clinical suspicion we labelled her as a case of Coomb’s negative immune haemolytic anaemia and she responded well to steroid.

scholarly journals Embolization of the false lumen using IMPEDE-FX embolization plugs as part of treatment of an infrarenal post-dissection aneurysm: a case report

2020 ◽  
Vol 3 (1) ◽  
Author(s):  
Anne-Jet S. Jansen ◽  
Paul M. van Schaik ◽  
Jasper M. Martens ◽  
Michel M. P. J. Reijnen
Keyword(s):  
Case Report ◽  
Mesenteric Artery ◽  
Inferior Mesenteric Artery ◽  
False Lumen ◽  
True Lumen ◽  
Case Presentation ◽  
Type A Dissection ◽  
Prospective Trials ◽  
The Right ◽  
Embolization Procedure

Abstract Background This case report demonstrates the value of IMPEDE-FX plugs in an embolization procedure of a false lumen of an infrarenal post-dissection aneurysm. Case presentation A 69-year-old patient was treated with mitral valve replacement, complicated by a Stanford type-A dissection. After 9 years he presented with an enlarging infrarenal post-dissection aneurysm. The false lumen was embolized using multiple IMPEDE-FX plugs as part of the treatment in addition to embolization of the inferior mesenteric artery and overstenting of the re-entry in the right iliac artery. At 15 months the CTA showed a fully thrombosed false lumen and remodeling of the true lumen. Conclusions The false lumen of an infrarenal post-dissection aneurysm can successfully be embolized using IMPEDE-FX embolization plugs as part of the treatment strategy. Prospective trials on patients with non-thrombosed false lumina are indicated.

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