Clinical course of a Japanese girl with Leber congenital amaurosis associated with a novel nonsense pathogenic variant in NMNAT1: a case report and mini review

2022 ◽  
pp. 1-9
Author(s):  
Tomoyasu Kayazawa ◽  
Kazuki Kuniyoshi ◽  
Yoshikazu Hatsukawa ◽  
Kaoru Fujinami ◽  
Kazutoshi Yoshitake ◽  
...  
Keyword(s):  
Case Report ◽  
Clinical Course ◽  
Pathogenic Variant ◽  
Leber Congenital Amaurosis

Chylopericardium following Atrial Septal Defect Repair: Case Report

2005 ◽  
Vol 8 (1) ◽  
pp. 23 ◽  
Author(s):  
Sanjay Kumar ◽  
Bharati Sinha
Keyword(s):  
Case Report ◽  
Atrial Septal Defect ◽  
Cardiac Tamponade ◽  
Unusual Case ◽  
Septal Defect ◽  
Clinical Course ◽  
Defect Repair ◽  
Cardiac Operations

Chylopericardium after intrapericardial cardiac operations is extremely rare. We present an unusual case of postoperative chylopericardium with cardiac tamponade following atrial septal defect repair, and we comment on the clinical course and treatment.

scholarly journals A Sri Lankan girl with a new genetic variant in the PKLR gene causing pyruvate kinase deficiency: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Ahalyaa Sivashangar ◽  
Lallindra Gooneratne ◽  
Barnaby Clark ◽  
David Rees ◽  
Saroj Jayasinghe ◽  
...  
Keyword(s):  
Case Report ◽  
Pyruvate Kinase ◽  
Genetic Variant ◽  
Asian Population ◽  
Pathogenic Variant ◽  
Sri Lankan ◽  
Recessive Trait ◽  
Case Presentation ◽  
Pyruvate Kinase Deficiency ◽  
Hematological Disorders

Abstract Background Erythrocyte pyruvate kinase is expressed under the control of the PKLR gene located on chromosome 1q21. Pyruvate kinase catalyzes the final steps of the glycolytic pathway and creates 50% of the red cell total adenosine triphosphate. Pyruvate kinase deficiency is the commonest glycolytic defect causing congenital non-spherocytic hemolytic anemia inherited in an autosomal recessive trait in which homozygotes and compound heterozygotes are common. Over 200 mutations have been described in patients with pyruvate kinase deficiency. This case report identifies a new pathogenic variant in PKLR gene detected in a patient with severe pyruvate kinase deficiency. Case presentation A Sri Lankan Sinhalese girl who developed neonatal anemia and jaundice within 24 hours of birth with mild hepatomegaly. She was from a nonconsanguineous marriage and had two siblings who had no hematological disorders. She had repeated admissions due to similar illnesses and at the age of 8 years was found to have pyruvate kinase deficiency associated with a novel homozygous pathogenic variant c.507+1delG in the PKLR gene. Conclusions A novel genetic variant in PKLR gene, consistent with pyruvate kinase deficiency, was detected in a Sri Lankan girl. This genetic variant may be specific to the Asian population and requires further studies.

Primary prostatic lymphoma: A rare case report

1995 ◽  
Vol 62 (1_suppl) ◽  
pp. 94-96 ◽  
Author(s):  
P. Tognoni ◽  
R. Banchero ◽  
U. Repetto ◽  
C. Caviglia ◽  
M. Cussotto ◽  
...  
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Clinical Course ◽  
Rare Case Report

— We present a rare case report of a non-Hodgkin primary prostatic lymphoma. In the article we focus on the increasing number of primary urologic lymphomas, the usual indolent clinical course of such a neoplasm and the combination of surgery and chemotherapy that we performed in this case.

scholarly journals Fatal Subacute Hepatic Failure in a Patient with AA-Type Amyloidosis: Case Report

2010 ◽  
Vol 2010 ◽  
pp. 1-4 ◽  
Author(s):  
Ibrahim Altraif ◽  
Fayaz A. Handoo ◽  
Khaled O. Alsaad ◽  
Adel Gublan
Keyword(s):  
Alkaline Phosphatase ◽  
Case Report ◽  
Hepatic Failure ◽  
Clinical Presentation ◽  
Clinical Course ◽  
Clinical Findings ◽  
Systemic Amyloidosis ◽  
Hepatic Involvement ◽  
Reactive Amyloidosis ◽  
Hepatic Amyloidosis

Although systemic amyloidosis of amyloid-associated protein (AA) type (secondary or reactive amyloidosis) frequently involves the liver, it rarely causes clinically apparent liver disease. Mild elevation of alkaline phosphatase and hepatomegaly are the most common biochemical and clinical findings, respectively. We report a case of systemic amyloidosis of AA type, which clinically presented as subacute hepatic failure and resulted in a fatal clinical course in a 69-year-old man. To the best of our knowledge, this is the fifth case of hepatic amyloidosis of AA type that clinically presented as fatal subacute hepatic failure, an unusual clinical presentation for hepatic involvement by systemic AA-type amyloid.

scholarly journals Acute Disseminated Encephalomyelitis Associated with Pasteurella multocida Meningitis

2003 ◽  
Vol 30 (2) ◽  
pp. 155-158 ◽  
Author(s):  
Normand L. Proulx ◽  
Mark S. Freedman ◽  
James W. Chan ◽  
Baldwin Toye ◽  
Cathy C. Code
Keyword(s):  
Case Report ◽  
Antibiotic Treatment ◽  
Pasteurella Multocida ◽  
Clinical Course ◽  
Acute Disseminated Encephalomyelitis ◽  
Persistent Fever ◽  
Mri Scans ◽  
One Year ◽  
Culture Positive ◽  
Serial Mri

ABSTRACT:Objective:To describe a case of Pasteurella multocida meningitis associated with acute disseminated encephalomyelitis (ADEM).Case report:A 33-year-old woman employed in a dog pound presented herself to hospital with fever and meningismus and was found to have culture positive Pasteurella multocida meningitis. Despite appropriate antibiotic treatment her clinical course was characterized by a persistent fever and worsening encephalopathy, which prompted further neurological investigation. Spinal fluid exam and serial MRI scans as well as her one-year clinical course were found to be compatible with ADEM.Conclusion:Persistent fever and worsening encephalopathy in meningitis may indicate a para-infectious immune process such as ADEM, and may serve as indications for further neurological investigation.

A novel pathogenic variant in LCAT causing FLD. A case report

2021 ◽  
pp. 1-6
Author(s):  
Nuria Goñi Ros ◽  
Ricardo González-Tarancón ◽  
Paula Sienes Bailo ◽  
Elvira Salvador-Ruperez ◽  
Martín Puzo Bayod ◽  
...  
Keyword(s):  
Case Report ◽  
Pathogenic Variant

A CASE OF A CHRONIC LYMPHOPROLIFERATIVE DISORDER PRESENTING AS AUTOIMMUNE HEMOLYTIC ANEMIA

2021 ◽  
pp. 13-14
Author(s):  
Jessica Pereira ◽  
Aparna Pai
Keyword(s):  
Case Report ◽  
Hemolytic Anemia ◽  
Autoimmune Hemolytic Anemia ◽  
Lymphoproliferative Disorder ◽  
Clinical Course ◽  
Lymphoproliferative Disorders ◽  
Favourable Response ◽  
Haemolytic Anemia

Lymphoproliferative disorders encompass a group of diseases with a highly variable clinical course. This is a case report of a patient who presented with haemolytic anemia initially and was subsequently diagnosed as a chronic lymphoproliferative disorder. He was treated with Rituximab to which he showed a favourable response.

Follicular Lymphoma With a Burkitt Translocation—Predictor of an Aggressive Clinical Course: A Case Report and Review of the Literature

2004 ◽  
Vol 128 (2) ◽  
pp. 210-213 ◽  
Author(s):  
Peter M. Voorhees ◽  
Kathryn A. Carder ◽  
Scott V. Smith ◽  
Lanier H. Ayscue ◽  
Kathleen W. Rao ◽  
...  
Keyword(s):  
Case Report ◽  
Follicular Lymphoma ◽  
Clinical Course ◽  
Lymphoblastic Leukemia ◽  
Initial Diagnosis ◽  
Indolent Lymphoma ◽  
Review Of The Literature ◽  
Cell Type ◽  
Aberrant Expression ◽  
Aggressive Clinical Course

Abstract Follicular lymphoma is an indolent lymphoma characterized by the (14;18) translocation, which leads to aberrant expression of Bcl-2. Translocations involving 8q24 are most commonly associated with Burkitt lymphoma and result in c-Myc overexpression. We report a case of follicular lymphoma of predominant small cleaved-cell type (grade 1) associated with both a t(14;18)(q32;q21) and a t(8;22)(q24;q11). The 8q24 translocation predicted an aggressive clinical course, as the lymphoma transformed into acute lymphoblastic leukemia within a year of initial diagnosis. Routine cytogenetic analysis is recommended at initial diagnosis of follicular lymphoma to better identify abnormalities that may predict prognosis and influence therapy.

scholarly journals Bilateral Charcot hip Arthropathy Due to Tabes Dorsalis: A Case Report

2018 ◽  
Vol 25 (1) ◽  
pp. 21-23
Author(s):  
Ip Hoi Yeung ◽  
Yeung Yip Kan ◽  
Luk Kristine Shik ◽  
Lam Polly Wy ◽  
Wong Kwok Ho
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Clinical Course ◽  
High Index ◽  
Tabes Dorsalis ◽  
High Index Of Suspicion

This article illustrates the clinical course of a patient diagnosed to have bilateral Charcot hip arthropathy secondary to tabes dorsalis from delayed untreated syphilitic infection. This differential diagnosis of rapid bilateral hip destruction was a near-extinct entity, and a high index of suspicion is needed to prevent untoward sequelae.

Metastatic Canine Medullary Thyroid Carcinoma: A Case Report

1980 ◽  
Vol 17 (3) ◽  
pp. 323-330 ◽  
Author(s):  
G. G. Long ◽  
R. M. Clemmons ◽  
H. Heath
Keyword(s):  
Case Report ◽  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Distant Metastasis ◽  
Clinical Course ◽  
Medullary Carcinoma ◽  
Neoplastic Tissue ◽  
Medullary Thyroid ◽  
Biochemical Alterations ◽  
Mitotic Figures

A medullary carcinoma of the thyroid in a dog first became evident because of a distant metastasis. The histologic characteristics of the tumor differ from those previously reported in dogs in that this tumor was highly malignant; anaplasia and mitotic figures were common. The diagnosis was substantiated by radioimmunoassay for calcitonin. Serotonin and 5-hydroxytryptophan also were elevated in the neoplastic tissue. The relation of the biochemical alterations to the clinical course was not clear.

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