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Malignant catatonia represents a severe and life-threatening neuropsychiatric syndrome that demands prompt recognition and intervention. This condition poses particular diagnostic and management challenges in adolescents, especially when genetic predispositions and neurodevelopmental vulnerabilities complicate the clinical picture.
Aims
This report examines a complex case of malignant catatonia in a 17-year-old female with developmental delay but no prior psychiatric diagnoses, who developed severe cognitive and behavioural deterioration. We explore the diagnostic complexities, therapeutic challenges and potential genetic contributions to her presentation.
Method
We present a comprehensive case analysis documenting clinical progression, treatment responses and genetic findings through whole-exome sequencing. The patient’s journey spans from initial presentation to long-term follow-up, with systematic assessment using standardised catatonia rating scales.
Results
The patient’s condition manifested as severe psychomotor impairment, mutism and autonomic instability, showing minimal response to initial treatment. Electroconvulsive therapy yielded significant but temporary amelioration of symptoms. Genetic analysis revealed a heterozygous mutation in the pogo transposable element derived with zinc finger domain (POGZ) gene – a gene implicated in neurodevelopmental disorders – suggesting this variant contributed to her neurobiological vulnerability. Concurrent features of functional neurological disorder further compounded the diagnostic complexity, illustrating the intricate interplay between genetic susceptibility and clinical presentation.
Conclusions
This case illuminates the challenges clinicians face when diagnosing and treating complex neuropsychiatric presentations in adolescents, particularly when genetic predispositions intersect with functional neurological symptoms. The findings emphasise how comprehensive, multidisciplinary approaches remain essential for optimal patient care. Moreover, this case highlights the selective utility of genetic investigation in elucidating potential underpinnings of complex, treatment-resistant malignant catatonia, whilst demonstrating that genetic variants may confer vulnerability rather than direct causation.
Patients with cancer frequently experience insomnia that significantly impacts their quality of life, worsens existing symptoms, and potentially hinders treatment outcomes and recovery. Here, we report on 3 cancer patients whose insomnia was improved with low-dose olanzapine.
Methods
A retrospective review of medical records was conducted for 3 cancer patients experiencing insomnia treated with olanzapine at Johns Hopkins Hospital. The data collection included the type of cancer diagnosis, the level of insomnia severity experienced by individuals, and treatment results and outcome.
Results
Olanzapine improved sleep in all 3 patients and decreased nausea/vomiting and anxiety in patients 2 and 3.
Significance of results
A low dose of olanzapine has potential to treat insomnia in cancer patients. The ideal dosing regimens and potential risks are unclear, especially for long-term use. More research and clinical trials are needed to evaluate off-label use of olanzapine for insomnia, including its efficacy and risks, and to optimize the dosage to reduce its side effects in cancer patients. Oncology providers should consider olanzapine as a potential treatment for insomnia, especially given its off-label uses and potential benefits.
Interrupted aortic arch is an uncommon cardiac anomaly characterised by a lack of continuity between the ascending and descending aorta. The presence of interrupted aortic arch in adults is extremely rare, and there is limited documentation of such cases in the literature. In this article, we present a unique case of interrupted aortic arch in an adult diagnosed through angiography. This case falls under the anatomical classification of type B interruption, although the blood supply to the left subclavian artery originates from the ascending aorta. Its haemodynamic characteristics are completely different from those of the classical type B interruption.
The relationship between oocyte morphology and developmental potential has been a hot research topic in assisted reproductive technology (ART). Whether inclusions in the perivitelline space (PVS) affect ART outcomes remains controversial.
Case Presentation:
We present a case report of a 34-year-old G3P1A2 woman who sought ART treatment because of sequelae of pelvic disease. As her husband had severe oligospermia due to the stress on the day of oocyte retrieval, intracytoplasmic sperm injection (ICSI) was performed. After denudation, varying degrees of debris were found in the PVS, but all the oocytes were subjected to ICSI. Among the eleven retrieved oocytes, eight were fertilized. The morphology of the embryos was scored on Days 2 and 3. Five embryos were frozen on Day 3, and two best-quality embryos were subsequently transferred via frozen embryo transfer.
Conclusion:
Severe debris in the PVS seems to affect embryo quality but not fertilization. Mild debris in the PVS may have little effect on the outcome of ART treatment. In our patient, after two embryos that were derived from oocytes with relatively few debris in the PVS were transferred, a successful live birth occurred.
Percutaneous interventions have become significant in the management of congenital heart diseases, with transcatheter procedures being increasingly used for valve dysfunction, particularly for cases requiring repetitive surgeries. This abstract presents a successful transcatheter valve-in-valve implantation in a 16-year-old patient with severe tricuspid regurgitation following a bioprosthetic tricuspid valve replacement. The procedure involved transcatheter tricuspid valve implantation using the Mammoth 25x40 mm balloon catheter and the 26 mm Myval transcatheter heart valve system (Meril Life Sciences Pvt. Ltd, Vapi, Gujarat, India), resulting in immediate improvement in right atrial pressure and regurgitation. The patient underwent an electrophysiological assessment as part of the follow-up and was discharged with a normal sinus rhythm. Tricuspid valve interventions, although less common, are essential in congenital heart diseases, which necessitate prosthetic heart valve implantation due to long-term complications. The valve-in-valve procedure offers a safe alternative, especially in paediatric patients, for reducing risks caused by repetitive surgeries, providing a valuable treatment option in experienced centres.
Psilocybin is being investigated as a treatment for a myriad of disorders, including treatment-resistant depression. The main focus has been on positive effects, with little attention paid to negative outcomes, especially in clinical settings. Quantitative methodology limits further exploration of such events and can also miss improvements not captured on rating scales.
Aims
To highlight potential adverse events of psilocybin and underline limits of quantitative methodology, calling for process evaluations alongside clinical trials.
Case presentation
This is a case of a participant in a phase 2b clinical trial of psilocybin for treatment-resistant depression who presented with increased suicidal ideation and a prolonged period of severely restricted eating following administration, leading to a period of destabilisation and a need for support. Despite the difficulties encountered and the participant's limited improvement on rating scales, she found the experience to have been helpful and led her to make changes to her life which she found beneficial. She described her experience in a written account to the authors.
Method
The case was summarised and the written account was thematically analysed and synthesised into a logic model.
Conclusions
Psilocybin could lead to temporary worsening of suicidal ideation and instigate prolonged adverse events that outlast its acute effects. Paradoxically, it could simultaneously lead to an improvement in functional outcomes which is not clear on depression rating scales. This calls for a qualitative exploration of serious adverse events and participant accounts to deepen our understanding of the psilocybin experience and its different outcomes.
Malnutrition is common among paediatric heart failure patients, with nutritional rehabilitation critical for survival and optimal health outcomes. Ventricular assist devices have been associated with improved growth, though additional nutritional support may be needed. Here, we report the use of human milk-based fortifiers to avoid severe malnutrition in a neonate supported on a ventricular assist device until transplantation.
Obsessive-compulsive disorder (OCD) and eating disorders (ED) are compulsive disorders with overlapping symptoms. However, weight loss and over-exercise causing secondary medical complications are rarely seen in OCD. We report the case of a 15-year-old male who presented with atypical symptoms of OCD leading to severe medical compromise. Covid-19 related team sport restrictions led to compulsive exercise associated with intrusive thoughts. The onset of stress fractures limited exercise ability, prompting compensatory food restriction. Bradycardia, hypothermia and hypoglycaemia resulted from severe malnourishment and weight loss in the context of OCD. His weight was 85.8% of ideal body weight on admission, reflective of a weight 10–15 kg lower than his premorbid weight. During admission, he developed exercise-induced rhabdomyolysis with significantly elevated creatinine kinase and required intensive care unit treatment. Psychotropic medication included lamotrigine, olanzapine and high dose fluoxetine alongside cognitive-behavioural therapy. Medical stabilisation and weight restoration allowed discharge to an outpatient Child and Adolescent Mental Health Service. This atypical case of OCD highlights the potentially life-threatening risks associated with excessive exercise and malnutrition. This paper highlights the complexities of treatment in a patient who cannot adhere to bed rest and the differential diagnoses of anorexia nervosa, orthorexia nervosa and exercise addiction.
Diagnosing Borrelia miyamotoi disease (BMD) presents challenges due to its overlap with Lyme disease (LD) symptoms and the lack of reliable laboratory diagnostics. This case study demonstrates the successful use of phage-based PCR (phb-PCR) in identifying B. miyamotoi in a patient with multiple tick bites. A 46-year-old female presented with joint and muscle pain, chronic fatigue, and cognitive impairment after being bitten by ticks in Europe. Standard diagnostic tests, including Enzyme-linked immunosorbent assay (ELISA), immunoblot for LD, and antibody tests for Bartonella, Anaplasma, and autoimmune conditions, all returned negative results. However, phb-PCR identified the presence of B. miyamotoi. The patient was treated with intravenous ceftriaxone, oral azithromycin, and intravenous vitamin and mineral therapy, resulting in significant improvement in symptoms, including reduced pain, improved cognitive function, and decreased fatigue. This case emphasises the importance of direct diagnostic methods like phb-PCR for accurately identifying BMD, especially when conventional serological tests fail. Clinicians should consider testing for B. miyamotoi in cases of complex tick-borne diseases for timely and effective management.
Oocytes with excessively large first polar bodies (PB1) often occur in assisted reproductive procedures. Many times these oocytes are discarded without insemination and, as a result, the application of this portion of oocytes has scarcely been reported to date. Few studies have examined large PB1 oocytes in infertile women and have virtually entirely studied genetic variations for large PB1 oocyte abnormalities. Here, we describe an unusual case of a live birth from a remarkably large PB1 oocyte in a frozen embryo transfer (FET) cycle. This is the first instance of a successful live birth resulting from a PB1 oocyte with an extremely large polar body measuring 80 μM × 40 μM in size. The large PB1 oocyte was performed by an early rescue intracytoplasmic sperm injection (r-ICSI) and was formed into a blastocyst on day 5. Following FET, a healthy boy baby weighing 3100 g was finally delivered by caesarean section at 37 weeks and 5 days after conception. Additionally, there were no complications throughout the antenatal period or the perinatal phase of this following full-term delivery. In this study, it is revealed for the first time that a huge PB1 oocyte can be fertilized, resulting in the growth of a blastocyst, a subsequent pregnancy, and a live birth. This new information prompts us to reconsider the use of large PB1 oocytes. More insightful talks should be given attention to prevent the waste of embryos because not all oocytes with aberrant morphology are unavailable.
We present the case of a premature neonate with pericardial effusion secondary to extravasation of total parenteral nutrition from a mispositioned/migrated umbilical venous catheter. Emergency pericardiocentesis was complicated by an intrapericardial thrombus, which was managed conservatively with spontaneous resolution within 24 hours. This case illustrates that the rare complication of an intrapericardial thrombus after pericardiocentesis can be successfully managed conservatively with close monitoring in haemodynamically stable paediatric patients.
Heritable thoracic aortic aneurysms are complex conditions characterised by the dilation or rupture of the thoracic aorta, often occurring as an autosomal-dominant disorder associated with life-threatening complications. In this case report, we present a de novo variant, MFAP5 c.236_237insA (p.N79Kfs9), which is implicated in the development of inherited thoracic aortic aneurysm. The proband, a 15-year-old male, presented with recurrent cough, dull chest pain, chest distress, vomiting, and reduced activity tolerance, leading to the diagnosis of heritable thoracic aortic aneurysms. Whole-exome sequencing identified a novel heterozygous variant in MFAP5 (NM_003480, c.236_237insA, and p.N79Kfs9). MutationTester and PolyPhen-s predicted this variant to be damaging and disease-causing (probability = 1), while the SFIT score indicated protein damage (0.001). Structural analysis using the AlphaFold Protein structure database revealed that this mutation disrupted the N-linked glycosylation site, resulting in a frameshift, amino acid sequence alteration, and truncation of an essential protein site. To our knowledge, this is the first case report describing a young patient with heritable thoracic aortic aneurysm carrying the novel MFAP5 c.236_237insA (p.N79Kfs*9) variant. This variant represents the third identified mutation site associated with heritable thoracic aortic aneurysm. Given the high mortality and morbidity rates associated with thoracic aortic aneurysms, the prevention of severe and fatal complications is crucial in the clinical management of this condition. Our case highlights the importance of whole-exome sequencing and genetic screening in identifying potential pathogenic or likely pathogenic variants, particularly in early-onset patients with aortic dilation, to inform appropriate management strategies.
Submitral aneurysm is a rare type of non-ischaemic ventricular aneurysm. We describe the case of a 26-year-old woman with progressive dyspnoea for approximately 1 year who was diagnosed with a ruptured submitral aneurysm in the left atrium with severe regurgitation. The patient underwent aneurysm correction and mitral valve repair, and post-operative echocardiography showed no residual abnormalities. The patient remains asymptomatic.
Accessory mitral valve tissue is a rare congenital cardiac anomaly that is typically discovered incidentally during echocardiographic evaluation prompted by an asymptomatic murmur. This pathology has characteristic echocardiographic elements and is usually associated with other CHD. The decision to perform surgical resection depends on factors such as the degree of obstruction, presence of symptoms, presence of other CHDs, and risk of thrombosis. The researchers hereby present a case of an asymptomatic paediatric patient with accessory mitral valve tissue that produced left ventricular outflow tract obstruction.
While the pressure points technique for proximal hemorrhage control is long known, it is not recommended in standard prehospital guidelines based on a study showing the inability to maintain occlusion for over two minutes.
Main Symptom:
This report details a gunshot wound to the left axillary area with complete transection of the axillary artery, leading to profuse junctional hemorrhage and profound hemorrhagic shock.
Therapeutic Intervention:
Proximal pressure of the subclavian artery was applied against the first rib (the pressure points technique) and maintained for 28 minutes.
Outcomes:
Cessation of apparent bleeding and excellent, enduring physiologic response to blood transfusion were observed.
Conclusion:
The pressure points technique can be life-saving in junctional arterial hemorrhage and should be reconsidered in prehospital guidelines.
Maladjustments and failures of programmable ventriculo-peritoneal shunts have been reported in patients encountering powerful electromagnetic fields, e. g. MRI.
We describe the case of a 53-year old man treated for hydrocephalus with a programmable Codman-Hakim shunt valve. During his hospitalization in Forensic Psychiatry, the patient’s valve pressure setting changed randomly despite frequent reprogramming and surveillance.
Objectives
Maladjustments and failures of programmable ventriculo-peritoneal shunts have been reported in cases in which patients have encountered powerful electromagnetic fields, e.g., MRI. Through a case, this study shows easy maladjustment of a Codman-Hakim programmable valve also by small magnetic fields from everyday life.
Methods
A 53-year old man presented with periventricular hydrocephalus due to aqueductal stenosis. The patient was treated with a left ventriculo-peritoneal Codman-Hakim programmable shunt valve. During his hospitalization in Forensic Psychiatry, the patient’s valve pressure setting changed randomly, presumably by walking through electromagnetically controlled doors of a hospital ward. With a test dummy, changes in pressure settings were tracked.
Results
Both - pressure settings of the patient’s Codman-Hakim programmable valve as well as pressure settings of a new valve - were unwantedly modified simply by walking through standard doors in a hospital ward.
Conclusions
Thus already weak magnetic fields (< 200 mT) might cause changes in the pressure settings of programmable shunt valves and therefore lead to maladjustment. Patients should be informed and pay attention to using everyday life’s devices, like rod magnets or mobile phones.
Acute measles encephalitis is a pathology of the central nervous system. It is most frequent in children but can also be described in adults. Given the rarity of this pathology, we present the case of this patient.
Objectives
present a rare neuropsychiatric complication of measles
Methods
Présentation d’un cas clinique d’encéphalite rougeoleuse et revue de la littérature
Results
Mrs. HJ, 45 years old, without any somatic history, was followed for an antisocial personality with a substance use disorder. She consulted the emergency for psychomotor agitation, a fever of 39, and a rash on the face, thorax, and limbs. At the psychiatric interview, she was disoriented and very unstable. She seemed to be hallucinating.
The brain imaging and the lumbar puncture (CT scan and brain MRI) were without abnormality. The rapid test (HIV) was negative and the biological check-up showed a hyperleukocytosis at 12660 and a crp at 138. The patient was put on double antibiotic therapy.
The evolution was marked by the non-improvement of the symptomatology with the persistence of agitation. Her speech was almost absent with a refusal to answer and to execute orders. She maintained certain postures. The patient was put on 400 mg of amisulpride.
After recovery of the viral serology, the diagnosis of a measles encephalopathy was confirmed (IgM positive) and the patient improved after a few days of hospitalization and was addressed to the psychiatric outpatient clinic.
Conclusions
Measles encephalitis is a rare but serious complication that requires multidisciplinary management
Acute measles encephalitis is a pathology of the central nervous system. It is most frequent in children but can also be described in adults. Given the rarity of this pathology, we present the case of this patient.
Objectives
To assess perfectionism and depression and to study the relationship between these two parameters in a population of medical students.
Methods
We conducted a descriptive and analytical cross-sectional study among students of the Faculty of Medicine of Sfax during the months of June, July, and August 2020. The data were collected through a self-questionnaire disseminated on the social network “Facebook”.This questionnaire included identification of socio-demographic characteristics as well as the personal history of students. Perfectionism was assessed by the Rheaume scale and depression by the Beck scale.
Results
A total of 206 students participated in the survey. The mean age was 21.49 ± 1.37 years. The majority of students were female (57.2%) with a sex ratio (F/H) of 1.34. Of the participants, 39.8% were enrolled as undergraduates and 60.19% as graduate students. According to their scores on the Rheaume scale, the students were non-perfectionists (NP) in 21.4% of cases; moderately perfectionists (MP) in 70.38% of cases, and highly perfectionists (HP) in 8.25% of cases. Severe depression was objectified in 7.3% of the cases. Students living alone were less perfectionist (p=0.01). Perfectionism score was higher in depressed students (35 ± 6.34) versus (31.428 ± 6.37) with a statistically significant correlation ( p ≤ 0.001).
Conclusions
It is true that perfectionism is an essential element for academic success. However, screening and prevention of depression are deemed necessary given its significant association with perfectionism.