Zeitschrift für klinische Fallberichte

BRCA1 und BRCA2 sind Tumorsuppressorgene, die bei der nicht-homologen DNA-Reparatur helfen. Keimbahnpathogene Varianten in diesen Genen verursachen das erbliche Brust- und Eierstockkrebssyndrom (HBOC). De novo pathogene Varianten (PVs) in BRCA1 und BRCA2 sind selten. In der Literatur wurden bis heute zwölf BRCA1- (einschließlich der vorliegenden) und sechs BRCA2- de novo -PVs veröffentlicht. Wir stellen eine Frau schottischer und englischer Abstammung vor, bei der eine de novo BRCA1 wahrscheinlich pathogene Variante (LPV) im Alter von 33 Jahren mit dreifach negativem Brustkrebs diagnostiziert wurde. Die Patientin wurde zur genetischen Beratung überwiesen. Keiner ihrer Eltern trug diese familiäre Variante und es wurden elterliche Vererbungstests durchgeführt, um ein nicht väterliches oder nicht mütterliches Ereignis auszuschließen. Ein de novo LPV ist die plausibelste Erklärung für diesen Fall. Zu wissen, ob eine BRCA1- oder BRCA2 -PV vorliegt, ist von erheblichem klinischen Wert bei der Prävention und Behandlung von Brust- und Eierstockkrebs. Die Kenntnis über die Rate de novo -PVs bietet praktizierenden Genetikern und genetischen Beratern zusätzliche Informationen, die bei der Stammbaumbewertung für das HBOC in Familien hilfreich sind.

Akute dekompensierte Herzinsuffizienz (ADHF) ist eine der häufigsten Ursachen für Krankenhausaufenthalte in den Vereinigten Staaten (USA). Sie ist auch eine der häufigsten Todesursachen in den USA und trägt zu einem von neun Todesfällen bei. Die Hälfte der ADHF-Todesfälle wird auf Arrhythmie oder plötzlichen Herzstillstand zurückgeführt, wobei die Hauptursache für plötzlichen Herzstillstand Störungen im Elektrolythaushalt sind. Hier beschreiben wir die aktuelle Literatur zur Pathophysiologie sowie zum klinischen Management von Elektrolyten mit einem Schwerpunkt auf der Kaliumhomöostase bei ADHF.

Ein 73-jähriger Mann stellte sich mit Oberbauchschmerzen und Gelbsucht vor, in der Vorgeschichte hatte er eine Vaskulitis großer Gefäße. In der Standardblutprobe wurden erhöhte Leberenzyme festgestellt. Im Ultraschall zeigte sich ein erweiterter Gallengang, der einer weiteren Untersuchung bedurfte. CT-Scan und MRT einen Tag später zeigten beide einen vergrößerten Pankreaskörper und -schwanz ohne Erweiterung des Wirsungschen Pankreasgangs und Cholangitis, was auf eine Autoimmunpankreatitis (AIP) mit Autoimmuncholangitis (AIC) hindeutet. Der Radiologe schlug die Diagnose vor und es wurden weitere Schritte unternommen. Die HISORt-Kriterien sind kein Lehrbuchbeispiel, aber eine AIP mit AIC ist wahrscheinlich. Eine Steroidtherapie wurde eingeleitet.

Background: Familial hemiplegic migraine (FHM) is an autosomal dominant disorder comprised of migraine with aura and associated neurologic deficit, classically motor (i.e. hemiparesis). Three genes are described in the literature in relation to FHM: CACNA1A (FHM1), ATP1A2 (FHM2), and SCN1A (FHM3). We report the first successful pregnancy outcome in a woman with FHM.

Case presentation: The patient is a 28 year-old Caucasian primigravida who transferred care at 29 weeks gestation with a history of FHM and a genetic diagnosis of CACNA1A mutation, reporting 14 years of neurologic symptoms including episodic eye twitching, bilateral weakness, dysarthia, paresthesia, aphasia, and apraxia, lasting from hours to days. She was on acetazolamide which resolved her symptoms. Her care required multidisciplinary approach from maternal fetal medicine, reproductive endocrinology, anesthesia, and obstetrics to plan for pregnancy management and delivery. Due to concerns about physical exertion and valsalva with vaginal delivery triggering a symptomatic event, the decision from various teams and the patient was to perform a cesarean section for delivery, Patient had an uncomplicated cesarean delivery following pre-loading with intravenous fluids prior to spinal anesthesia. A viable female infant was born, and patient had uneventful postpartum course. Upon further review of the genetic report, whole exome sequencing had been performed and a CACNA1A variant was classified as a variant of uncertain significance then. Reanalysis of the CACNA1A reported variant in ClinVar revealed that her mutation is currently classified as benign by several large reference laboratories.

Conclusion: We reviewed the pathogenesis of FHM and management options. A multi-disciplinary approach resulted in a healthy outcome for the mother and her newborn. In addition, our case highlights the importance of not only obtaining the original genetic report but also to consider reanalysis of the genetic results. As the field of neurogenetics expands rapidly, genetic variants in databases are reevaluated overtime allowing updated classifications of predicted pathogenicity.

Managing the sodium level in the beer potomania patient is so challenging. Every 5 to 6 people with beer potomania develop ODS during treatment. Close monitoring on the sodium level with severe hyponatremia occurs commonly in patient with alcoholism. Many pathological mechanisms contribute to this condition, one of the most unique mechanism presents in beer potomania. The beer does not contain enough sodium but contains enough calories to prevent protein break down. This will result lower urine osmolality due to low urea and sodium in the urine. Daily heavy beer drinker will have maximally diluted urine, hence the total volume of urine will be dependent only on the solute intake. Even little increment in solute intakes could reverse this mechanism and produce rapid elevation in serum sodium level. With that being said, correction modest correction of serum sodium are the main principle of the treatment. D5W or desmopressin or both is frequently needed to slow down the sodium progression.

Background: Comamonas Testeroni is a gram-negative bacillus which rarely causes infection in humans. This case represents the first case reported in the English-speaking Caribbean. As a pathogen it is most often implicated in intra-abdominal infections, most often appendicitis; this cause is the first report of pancreatitis/ pancreatic collection being the nidus of infection.

Case study: Informed consent was attained for the use of their clinical details and images. It was assured that identifying demographics were removed to ensure confidentiality. There were no vulnerable groups or individuals in this case.

Conclusion: C. testeroni rarely causes infection in humans but when it does, an intra-abdominal source is most often the source of infection.

The knowledge of different diverse human teeth roots and root canals morphology and the ability to read its “road map” is right road for the success of root canal treatment. Double rooted anterior teeth are rarely reported. This case report aim was to represent management of a case has mandibular canine with two root canals within two separate roots. Endodontic treatment of tooth #33 with such morphology was performed in a 41-year-old woman. Therefore, clinicians must always suspect anatomical varieties and do not ignore anatomical variations even if recorded low prevalence, use all the available tools to diagnose, carefully examine the initial radiograph which is extremely important for these cases management.

Introduction: Diabetes mellitus has a broad range of complications, including diabetic Charcot neuroarthropathy of the knee. This complication is a destructive joint disorder by way of nerve damage and subsequent unfelt microtrauma. Another condition that can cause severe, but painless osteoarthropathy of the knee is synovial sarcoma. This type of tumour is a soft tissue neoplasm that predominantly presents within, or near large joints of the lower extremities. Synovial sarcoma can cause bone invasion, bone erosion, or both. These bone changes can then contribute to joint destruction. The overlap between the clinical features of Charcot knee and synovial sarcoma can be significant. Therefore, differentiating the two can be complicated. There have been reported cases of incidental findings of synovial sarcoma during treatment of knee arthropathy. Both synovial sarcoma and Charcot arthropathy require time-sensitive management, and a timely diagnosis may help reduce the risk of a poor prognosis.

Case presentation: We present a case of diabetic Charcot neuroarthropathy of the knee. This case was complicated by CT findings that were suspicious for synovial sarcoma. Furthermore, we reviewed current literature for Charcot knee and synovial sarcoma. This literature review included additional evaluations that should be considered when differentiating between these conditions and other joint destructive disorders. This case was handled by the Department of Orthopedics, Milton Cato Memorial Hospital, Kingstown, Saint Vincent and the Grenadines.

A 52-year-old black woman with an eighteen-year history of uncontrolled type II diabetes mellitus presented with nine months of chronic and progressive right knee swelling. On primary survey, the knee was moderately swollen with crepitus. Fluid from the knee joint was aspirated with no signs of pathology. Osteoarthritis remained the working diagnosis. A corticosteroid injection was administered, and the patient was given a knee brace and crutches with non-weight bearing instructions. Furthermore, plain film X-ray imaging was performed which revealed degenerative joint changes to the knee. On secondary survey, the knee became severely swollen. On physical examination, the right knee joint presented with significant effusion, increased warmth, and crepitus. There was mild tenderness only with full knee flexion. Both anterior and posterior draw tests were positive. In addition, the knee joint was capable of hyperabduction and hyperadduction of the lower leg, opening the joint medially and laterally respectively. Plain film X-ray imaging revealed a markedly edematous knee joint with extensive erosion to the femur and tibia. Periarticular debris and fragmentation were also noted. Given the patient’s history of diabetes mellitus, diabetic Charcot neuroarthropathy was included in the differential diagnosis. A CT scan was ordered, and the impression indicated suspicion for synovial sarcoma. As a result of the CT findings, synovial sarcoma was added to the differential diagnosis. Due to the extensive destruction of the knee joint surgical intervention was indicated. The patient was scheduled for an arthrodesis with the intention of mass biopsy. During surgery, the knee joint was opened with direct visualization of the synovium. There was no mass or features of malignancy to warrant biopsy. Post-surgery, the patient was placed in a cast for ten weeks. The patient was diagnosed with diabetic Charcot neuroarthropathy of the knee, and the symptoms markedly resolved four months post operation.

Discussion: This literature illustrates prompt assessments to consider when diagnosing diabetic Charcot neuroarthropathy and synovial sarcoma of the knee. These assessments lead to quicker diagnosis, ideal treatment, and optimal patient outcomes.

Venlafaxine, a selective serotonin-norepinephrine reuptake inhibitor (SSNRI) approved by FDA in 1983 for treatment of depression, lately approved for anxiety disorder is a popular medication all over the world. Though symptoms of nausea, vomiting, dizziness, and insomnia are frequent with Venlafaxine, akathisia is reported rarely. A thorough search on the internet revealed only 6 case reports of Venlafaxine induced akathisia till now. This is a case report of a young adult male from India, known case of Major Depressive Disorder (not on treatment), who presented to the outpatient department with high-grade fever with chills, rigors, headache, body ache, and nausea. The patient was diagnosed with Plasmodium vivax malaria and started on the standard regimen of chloroquine [0 (10 mg/kg), 6, 24 and 36 hours (5 mg/kg)] followed by primaquine (30 mg, 14 days). Patient was started on Venlafaxine (75 mg/day), later increased to 225 mg/day]. The patient developed restlessness, irritability, uncontrollable urge to move around, and an inability to lay still on the bed. After ruling out other possible causes, a diagnosis of Venlafaxine induced akathisia was made. The symptoms started improving and subsided completely after venlafaxine was withdrawn.