scholarly journals Acute pharmacogenetic dystonic reactions in a family with the CYP2D6 *41 allele: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Darice Y. Wong ◽  
Brent L. Fogel
Keyword(s):  
Cytochrome P450 ◽  
Family History ◽  
Clinical Evidence ◽  
Neurological Complication ◽  
Case Presentation ◽  
History Of ◽  
Extrapyramidal Effects ◽  
Cytochrome P450 Family ◽  
Intermediate Metabolizer ◽  
P450 2D6

Abstract Background Dystonia is a known neurological complication of certain medications; however, the mechanism behind such effects is often undetermined. Similarly, the clinical pharmacogenomic effects associated with various alleles of the cytochrome P450 family of proteins, and their role in acute dystonic reactions, are also presently unknown. Case presentation We describe a woman presenting with acute dystonic reactions to ondansetron, prochlorperazine, and metoclopramide followed by persistent focal dystonia. A similar family history was reported in her siblings and her father to prochlorperazine, drugs all metabolized by the cytochrome P450 2D6 (CYP2D6) enzyme. Pharmacogenomic testing indicated the patient was heterozygous for the intermediate metabolizer *41 allele (CYP2D6 2988G>A, NM_000106.6:c.985+39G>A, rs28371725). Her father was homozygous for this CYP2D6 *41 allele, and consequently, her siblings were obligate carriers. Conclusions The metabolism of ondansetron, metoclopramide, or prochlorperazine in patients with the *41 CYP2D6 allele has not been studied. In this family, clinical evidence implicates the *41 CYP2D6 allele as causing extrapyramidal adverse pharmacologic reactions. Patients with a family history of medication-induced dystonia involving these medications should be considered for pharmacogenomic testing, and patients carrying the *41 CYP2D6 allele should consider reduction or avoidance of CYP2D6-mediated medications to minimize the potential risk of adverse extrapyramidal effects.

scholarly journals Clozapine-induced stuttering in the absence of known risk factors: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Florence Jaguga
Keyword(s):  
Risk Factors ◽  
Family History ◽  
Side Effect ◽  
Case Reports ◽  
Extrapyramidal Symptoms ◽  
Prior History ◽  
Case Presentation ◽  
Rare Side Effect ◽  
History Of ◽  
Electrophysiological Findings

Abstract Background Stuttering is a rare side effect of clozapine. It has been shown to occur in the presence of one or more factors such as abnormal electrophysiological findings and seizures, extrapyramidal symptoms, brain pathology, and a family history of stuttering. Few case reports have documented the occurrence of clozapine-induced stuttering in the absence of these risk factors. Case presentation A 29-year-old African male on clozapine for treatment-resistant schizophrenia presented with stuttering at a dosage of 400 mg/day that resolved with dose reduction. Electroencephalogram findings were normal, and there was no clinical evidence of seizures. The patient had no prior history or family history of stuttering, had a normal neurological examination, and showed no signs of extrapyramidal symptoms. Conclusion Clinicians ought to be aware of stuttering as a side effect of clozapine, even in the absence of known risk factors. Further research should investigate the pathophysiology of clozapine-induced stuttering.

scholarly journals Familial pancreatic cancer with PALB2 and NBN pathogenic variants: a case report

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Kodai Abe ◽  
Arisa Ueki ◽  
Yusaku Urakawa ◽  
Minoru Kitago ◽  
Tomoko Yoshihama ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Family History ◽  
Genetic Analysis ◽  
Pathogenic Variant ◽  
Familial Pancreatic Cancer ◽  
Case Presentation ◽  
Pathogenic Variants ◽  
Pancreatic Cancers ◽  
Epidemiological Surveys ◽  
History Of

Abstract Background Family history is one of the risk factors for pancreatic cancer. It is suggested that patients with pancreatic cancer who have a familial history harbor germline pathogenic variants of BRCA1 and/or BRCA2 (BRCA1/2), PALB2, or ATM. Recently, some germline variants of familial pancreatic cancers (FPCs), including PALB2, have been detected. Several countries, including Japan, perform screening workups and genetic analysis for pancreatic cancers. We have been carrying out active surveillance for FPC through epidemiological surveys, imaging analyses, and genetic analysis. Case presentation Here, we present the case of a female patient harboring pathogenic variants of PALB2 and NBN, with a family history of multiple pancreatic cancer in her younger brother, her aunt, and her father. Moreover, her father harbored a PALB2 pathogenic variant and her daughter harbored the same NBN pathogenic variant. Given the PALB2 and NBN variants, we designed surveillance strategies for the pancreas, breast, and ovary. Conclusions Further studies are required to develop strategies for managing FPCs to facilitate prompt diagnosis before their progression.

scholarly journals Job’s Syndrome With a Family History of Kawasaki Disease: A Case Presentation and Review of Literature

2021 ◽  
Vol 10 (1) ◽  
pp. 19-22
Author(s):  
Tamar Yared ◽  
Samer Mohsen
Keyword(s):  
Family History ◽  
Kawasaki Disease ◽  
Immunoglobulin E ◽  
Serum Antibody ◽  
Primary Immunodeficiency Disease ◽  
Case Presentation ◽  
Job’S Syndrome ◽  
History Of ◽  
Job's Syndrome ◽  
Probable Relation

Background: Job’s syndrome or hyper-immunoglobulin E (IgE) syndrome (HIES) is an extremely rare primary immunodeficiency disease with an approximate annual incidence of less than 1/1000000. It is characterized by recurrent cold staphylococcal infections, unusual eczematous dermatitis, severe lung infections, and extensively high concentrations of the serum antibody IgE. Case Presentation: A typical case of Job’s syndrome with a family history of Kawasaki disease is presented in this study aiming at identifying the clinical features, investigational procedures, and management strategy, as well as evaluating the role of the ear, nose, and throat specialist and highlighting the probable relation between Job’s syndrome and Kawasaki disease. Conclusions: In general, early detection with proper care can prevent the progression of Job syndrome. In addition, the initiated treatment at the first signs of infection is mandatory for preventing long-term complications. There is a probable relation between Job and Kawasaki which requires more consideration.

Methemoglobinaemia in Diabetic Ketoacidosis Patient

2021 ◽  
Vol 03 ◽  
Author(s):  
Magdy Mohamed ◽  
Nadem Javed
Keyword(s):  
Ascorbic Acid ◽  
Family History ◽  
Diabetic Ketoacidosis ◽  
G6pd Deficiency ◽  
Genetic Disorder ◽  
Red Blood Cell Transfusion ◽  
Case Presentation ◽  
History Of ◽  
Insulin Dependent ◽  
Glucose 6 Phosphate Dehydrogenase

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked genetic disorder. Case Presentation: In this paper, we report a case of a 41-years-old male patient with non-insulin-dependent diabetes and a family history of G6PD deficiency never known to have any previous hemolytic episodes, presented as a case of diabetic ketoacidosis with features of hemolytic anemia due to G6PD deficiency manifesting as methemoglobinemia and anemia. Conclusion: Our patient successfully managed with ascorbic acid and red blood cell transfusion. Clinicians should, therefore, be aware of the possibility of this uncommon association between diabetic ketoacidosis, G6PD deficiency, and methemoglobinemia which may be present in patients with G6PD deficiency and severe hemolysis.

scholarly journals Adalimumab Induced or Provoked MS in Patient with Autoimmune Uveitis: A Case Report and Review of the Literature

2016 ◽  
Vol 2016 ◽  
pp. 1-6 ◽  
Author(s):  
Rana Alnasser Alsukhni ◽  
Ziena Jriekh ◽  
Yasmin Aboras
Keyword(s):  
Family History ◽  
Autoimmune Diseases ◽  
Safety Data ◽  
Cerebral Lesions ◽  
Case Presentation ◽  
Autoimmune Uveitis ◽  
Relative Safety ◽  
History Of ◽  
Magnetic Resonance Imaging Mri ◽  
Necrosis Factor

Anti-tumor necrosis factorα(anti-TNF-α) agents have been widely used in the field of autoimmune diseases and have proved decisive efficacy and relative safety. Data concerning their adverse effects has been lately describing central nervous system (CNS) demyelination process at escalating basis.Case Presentation. A 23-year-old male with autoimmune uveitis and a family history of multiple sclerosis (MS) developed two neurological attacks, after Adalimumab infusion, simultaneously with several cerebral lesions on magnetic resonance imaging (MRI). Hence the diagnosis of Adalimumab induced MS was suspected.Conclusion. This case is reported to tell physicians to be cautious when using anti-TNF-αin patients with family history of MS and to reconsider the risk of MS in patients with autoimmune diseases.

scholarly journals Sporadic Hemiplegic Migraine with SCN1A Gene Mutation—A Case Report

US Neurology ◽  
2018 ◽  
Vol 14 (2) ◽  
pp. 108 ◽  
Author(s):  
Mukesh Dube ◽  
Akshay Navalkishor Lakhotia ◽  
Vaibhav Yadav ◽  
Rahul Jain ◽  
◽  
...  
Keyword(s):  
Family History ◽  
Positive Family History ◽  
Conversion Disorder ◽  
Severe Form ◽  
Hemiplegic Migraine ◽  
Case Presentation ◽  
Missense Variation ◽  
History Of ◽  
Work Up ◽  
First Time

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.

scholarly journals Type II acquired cutis laxa associated with recurrent urticarial vasculitis: brief report

2020 ◽  
Vol 16 (1) ◽  
Author(s):  
Amelia Nabatanzi ◽  
Siqi Da ◽  
Musa Male ◽  
Siyuan Chen ◽  
Changzheng Huang
Keyword(s):  
Family History ◽  
Inflammatory Cells ◽  
Cutis Laxa ◽  
Elastic Fibers ◽  
Type Ii ◽  
Urticarial Vasculitis ◽  
Case Presentation ◽  
History Of ◽  
Skin Wrinkling ◽  
Chemical Mediators

Abstract Background Cutis laxa is a connective tissue disease characterized by loose, wrinkled, and redundant skin. It is either inherited or acquired. In most cases, acquired cutis laxa is associated with neoplasms, drugs, and autoimmune diseases. We present a rare case of acquired cutis laxa following a recurrent urticaria-like eruption in the absence of an autoimmune disease, neoplasm, drugs and or syndrome. Case presentation We report a case of a 45-year-old Chinese lady with a 1-year history of widespread pruritic urticarial eruption and a 6-month history of progressive skin wrinkling. On examination, the patient appeared older than her actual age, with apparent wrinkling on the mid-torso with generalized smooth, erythematous macules and wheals. A family history of similar conditions was absent. Biopsy revealed hypersensitivity and atrophy. Following the Food and Drug Administration (FDA) guidelines, we administered antihistamines, which relieved the itching, but her hyperpigmentation and cutis laxa never improved. Conclusion Our case shows that the decrease of elastic fibers may be associated with the infiltration of inflammatory cells in the dermis. This supports the hypothesis that chemical mediators may play a major role in the destruction of elastic fibers, thus causing cutis laxa. In addition, we advise practitioners to take a complete clinical and family history to determine if the condition is inherited or acquired.

scholarly journals A 10-Year-Old Girl with Progressive Generalized Weakness

2006 ◽  
Vol 33 (4) ◽  
pp. 414-417
Author(s):  
Jean K. Mah ◽  
Harvey B. Sarnat
Keyword(s):  
Family History ◽  
Neuromuscular Diseases ◽  
Visual Disturbance ◽  
Case Presentation ◽  
The Past ◽  
Uncomplicated Pregnancy ◽  
Pregnancy And Delivery ◽  
History Of ◽  
Early Developmental ◽  
Progressive Weakness

Case PresentationDr. Harvey Sarnat: A.Y. was a 10-year-old Mexican girl who presented with a 7-year history of progressive weakness. She was the full-term product of an uncomplicated pregnancy and delivery, weighing 2850 grams at birth. Early developmental milestones were achieved at the expected rate until age three, when frequent falling was noted. Progressive weakness of her legs ensued, and at age nine years, A.Y. lost the ability to walk beyond a few steps, and shortly thereafter she could not stand without support. She had no seizures, visual disturbance, dysphagia, or incontinence. Previously an excellent student, her academic performance in school had deteriorated over the past year. She was not on any medications. Family history was negative for any known neurological or neuromuscular diseases. A.Y. was an only child. Both parents were alive and well; there was no history of consanguinity.

scholarly journals A novel DAX-1 (NR0B1) mutation in a boy with X-linked adrenal hypoplasia congenita

2017 ◽  
Vol 30 (12) ◽  
Author(s):  
Karine Gerster ◽  
Claudia Katschnig ◽  
Sascha Wyss ◽  
Anne Kolly ◽  
Patrick Sproll ◽  
...  
Keyword(s):  
Family History ◽  
Molecular Analysis ◽  
Adrenal Failure ◽  
Adrenocortical Insufficiency ◽  
Case Presentation ◽  
Unexplained Death ◽  
Adrenal Hypoplasia Congenita ◽  
History Of ◽  
Adrenal Hypoplasia ◽  
Acute Adrenal Failure

AbstractBackground:X-linked adrenal hypoplasia congenita (AHC) is caused by mutations inCase presentation:Herein we report a 2.5-year-old boy who presented with acute adrenal failure. Family history revealed unexplained death in three brothers of the patient’s mother during infancy. Molecular analysis of theConclusions:mutation must be considered when diagnosis of primary adrenocortical insufficiency is made, especially if there is a history of unexplained death of maternal male relatives.

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