scholarly journals Mind the Gap: Acetazolamide Prolonged Periods without Paralysis in a Girl with Andersen-Tawil Syndrome

2021 ◽  
pp. 515-520
Author(s):  
Nina Žakelj ◽  
Damjan Osredkar ◽  
Nataša Šuštar
Keyword(s):  
Case Report ◽  
Social Engagement ◽  
Social Life ◽  
Ventricular Arrhythmias ◽  
Genetic Disorder ◽  
Daily Activities ◽  
Muscle Paralysis ◽  
Off Label ◽  
Dysmorphic Features ◽  
Frequent Episodes

We present a case report of a 13-year-old girl with Andersen-Tawil Syndrome (ATS), a rare genetic disorder which is characterized by dysmorphic features, ventricular arrhythmias, and frequent episodes of muscle paralysis that interfere with daily activities and social engagement. After the introduction of off-label treatment with acetazolamide periods without paralysis lengthened, our patient became more independent of the help of her parents and required a wheelchair less frequently, thus improving her social life. Based on our experience, we recommend a trial of acetazolamide in patients with ATS.

scholarly journals Down syndrome with congenital hydrocephalus: case report

2006 ◽  
Vol 64 (3b) ◽  
pp. 869-871 ◽  
Author(s):  
Cassiano Mateus Forcelini ◽  
Adroaldo Baseggio Mallmann ◽  
Paulo Sérgio Crusius ◽  
Cláudio Albano Seibert ◽  
Marcelo Ughini Crusius ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Mental Retardation ◽  
Case Report ◽  
Ventriculoperitoneal Shunt ◽  
Head Circumference ◽  
Genetic Disorder ◽  
Congenital Hydrocephalus ◽  
Dysmorphic Features ◽  
Abnormal Increase ◽  
Male Neonate

Down syndrome is the most frequent genetic cause of mental retardation. Although usually presenting dysmorphic features and organ malformations, it is rarely associated with congenital hydrocephalus. The case of male neonate whose hydrocephalus was detected since the pregnancy and was discovered to have the syndrome at birth is reported. Chromosomal analysis confirmed the genetic disorder, and hydrocephalus was treated with ventriculoperitoneal shunt because of abnormal increase of head circumference. The patient has been accompanied and his development is considered normal when compared to the expected for those affected by the syndrome.

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.

Management of Platelets in a Persian Girl with the Tetralogy_Pantalogy of Fallot (Tof_Pof): A Case Report Study

2020 ◽  
Author(s):  
Bahram Alamdary Badlou
Keyword(s):  
Case Report ◽  
Ventricular Septal Defect ◽  
Atrial Septal Defect ◽  
Sleep Disorders ◽  
Social Life ◽  
Rare Case ◽  
Septal Defect ◽  
Old Persian ◽  
Underlying Mechanisms ◽  
The Relationship

We report a rare case of unrepaired Tetralogy_Pantalogy of Fallot (TOF_POF) in a 20 years old Persian girl Mrs Zeynab S., who presented with cyanotic finger tops appearance, ongoing chronic thrombolytic destruction processes, and remarkable thrombocytopenia [1,2], heart ventricular septal defect (VSD), and might atrial septal defect (ASD), anxiety, sleep disorders, nightmares, and limited social life. Additionally, the relationship between underlying mechanisms, possible treatments of the thrombocytopenia, erythrocytosis, and unrepaired cardiovascular leakages remains unknown.

scholarly journals Patient-reported effectiveness and safety of Pamidronate in NSAIDs-refractory chronic recurrent multifocal osteomyelitis in children

2021 ◽  
Author(s):  
Bartłomiej Juszczak ◽  
Jerzy Sułko
Keyword(s):  
Adverse Drug Reactions ◽  
Social Life ◽  
Chronic Recurrent Multifocal Osteomyelitis ◽  
Daily Activities ◽  
Drug Reactions ◽  
Patient Reported ◽  
Multifocal Osteomyelitis ◽  
Drug Dependent ◽  
Treatment Onset ◽  
The Impact

AbstractTo evaluate patient-reported effectiveness, safety and social influence of Pamidronate in the therapy of NSAIDs-refractory Chronic Recurrent Multifocal Osteomyelitis in children. Authors reviewed self-created questionnaires, which asked patients for symptoms alleviation, adverse drug reactions frequency and degree of severity and daily activities self-reliance. Only surveys with complete answers, which were returned to authors by an e-mail from juvenile patients treated for NSAIDs-refractory Chronic Recurrent Multifocal Osteomyelitis at the University Children’s Hospital of Cracow were analyzed. Between 2010 and 2019, 61 children were diagnosed with NSAIDs-refractory Chronic Recurrent Multifocal Osteomyelitis at our department. Out of 61 requests sent, 42 complete replies (33 females, 9 males) were gathered and analyzed. All patients included in this research were administered with at least one set of Pamidronate intravenously in the dose of 1 mg/kg/day for 3 consecutive days. Our analysis shows remarkable in terms of patient’s impressions decrease of pain intensity after 2.5 series of Pamidronate on average, and total pain resolution after 5.9 series on average. Overall number of adverse drug reaction events reported by responders was 105. One patient developed drug-dependent renal insufficiency in the course of therapy. Outcome assessment indicates that nearly 50% of the studied population was more eager to participate in social life just after the first infusion of the drug. 95% of the surveyed unanimously agreed to recommend Pamidronate therapy to cure NSAIDs-refractory CRMO. 39 out of 42 (93%) patients considered Pamidronate effective at the end of the treatment. Onset of Pamidronate’s action is gradual and differs in terms of symptoms alleviation between sexes. The therapy can induce considerable number of adverse drug reactions (2.5 per patient). Only 3 out of 42 (7%) patients were free from any ADRs. To demonstrate the impact of the use of Pamidronate on daily activities more precisely, further research with quantification of the quality of life is warranted.

scholarly journals The value of a simple method to decrease diagnostic errors in Turner syndrome: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Seyedetahere Mousavi ◽  
Batool Amiri ◽  
Saidee Beigi ◽  
Mohammadreza Farzaneh
Keyword(s):  
Case Report ◽  
Standard Deviation ◽  
Physical Examination ◽  
Turner Syndrome ◽  
X Chromosome ◽  
Genetic Disorder ◽  
Diagnostic Errors ◽  
Height Velocity ◽  
Target Height ◽  
Simple Method

Abstract Introduction Turner syndrome is a genetic disorder in females and is the result of complete or partial loss of an X chromosome during fertilization. The missing X chromosome is originally either from the mother's ovum or the father's sperm cell. Approximately 45% of patients have the 45,X karyotype and the rest have other variants of Turner syndrome, which are either mosaicism patterns or structural abnormalities of the X chromosome. Here, we report a case of Turner syndrome that is the fifth case of Turner syndrome with balanced Robertsonian translocation of (13;14)(q10;q10), and the sixth case with 44,X chromosomes, reported in the literature thus far. Case presentation A 10.3-year-old Persian girl was brought to our clinic by her parents, with the complaint of failure to thrive and short height. She had been examined and investigated by endocrinologists since the age of 4 years, but no definite diagnosis was made. At the time of presentation, she had been through three provocative growth hormone tests and had been on no medications for about a year. Her physical examination revealed mild retrognathia and micrognathia. Initially, she was started on somatropin treatment which, after 12 months, did not appropriately improve her height velocity. Therefore, a more thorough physical examination was performed, in which high arched palate and low posterior hairline were observed. There was also a difference between target height and patient height standard deviation scores. Karyotype study was requested, and Turner syndrome was confirmed. Conclusion The diagnosis of this case was not straightforward, both because the somatic presentations were not obvious, and because the physicians had not looked for them when performing the physical examinations. This case report introduces a rare 44,X chromosome karyotype of Turner syndrome and highlights the value in using the difference between target height and patient height standard deviation scores as a simple and inexpensive tool for diagnosis of this syndrome.

scholarly journals Fever Unmasked Brugada Syndrome in Pediatric Patient: A Case Report

2020 ◽  
Vol 4 (2) ◽  
pp. 244-246
Author(s):  
Orhay Mirzapolos ◽  
Perry Marshall ◽  
April Brill
Keyword(s):  
Emergency Medicine ◽  
Case Report ◽  
Brugada Syndrome ◽  
Ventricular Arrhythmias ◽  
Cardiac Monitoring ◽  
St Segment Elevation ◽  
Cardioverter Defibrillator ◽  
St Segment ◽  
Viral Illness ◽  
Automatic Implantable Cardioverter Defibrillator

Introduction: Brugada syndrome is an arrhythmogenic disorder that is a known cause of sudden cardiac death. It is characterized by a pattern of ST segment elevation in the precordial leads on an electrocardiogram (EKG) due to a sodium channelopathy. Case Report: This case report highlights the case of a five-year-old female who presented to the emergency department with a febrile viral illness and had an EKG consistent with Brugada syndrome. Discussion: Fever is known to accentuate or unmask EKG changes associated with Brugada due to temperature sensitivity of the sodium channels. Conclusion: Febrile patients with Brugada are at particular risk for fatal ventricular arrhythmias and fevers should be treated aggressively by the emergency medicine provider. Emergency medicine providers should also consider admitting febrile patients with Brugada syndrome who do not have an automatic implantable cardioverter-defibrillator for cardiac monitoring.

scholarly journals Ring 20 Chromosome Syndrome with Epilepsy and Dysmorphic Features: A Case Report

Epilepsia ◽  
2001 ◽  
Vol 42 (12) ◽  
pp. 1607-1610 ◽  
Author(s):  
Dolores María García ◽  
Rosario Ortiz ◽  
Alicia Gómez ◽  
Enrique Barriuso
Keyword(s):  
Case Report ◽  
Dysmorphic Features

scholarly journals A case report of a congenital constrictive band of the forearm with intrinsic muscle paralysis

1978 ◽  
Vol 27 (1) ◽  
pp. 89-90
Author(s):  
M. Saeki ◽  
T. Oomiya ◽  
M. Kido ◽  
T. Kojima ◽  
K. Katai
Keyword(s):  
Case Report ◽  
Muscle Paralysis ◽  
Intrinsic Muscle
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