SAGE Open Medical Case Reports最新文献

ATRX gene (alpha-thalassemia mental retardation X-linked) encodes for a chromatin remodeler and regular transcription protein, part of the SNF2 family of chromatin remodeling proteins. Mutations in this gene have been associated with severe syndromes, including intellectual disability, typical facial dysmorphia, urogenital anomalies, and atypical alpha thalassemia. In this report, we present a 7-year-old Moroccan boy with severe intellectual disability, autistic features, typical facial dysmorphia, bilateral cryptorchidism, and scoliosis. Whole exome sequencing identified a missense variant of uncertain significance in the ATRX gene (NM_000489.3: c.745G>A). In silico tools strongly predict the pathogenicity of this variant. Moreover, this variant occurs in a highly conserved domain, potentially affecting the function of the encoded protein, and the glycine at position 249 is well conserved across different species. Further studies are needed to confirm the pathogenicity of this novel variant to establish adequate genetic counseling.

Presenting as a large vessel vasculitis, giant cell arteritis (GCA) manifests with various symptoms, including fever, myalgias, headache, and jaw claudication. Although the precise pathogenesis of GCA remains incompletely elucidated, there is speculation about the involvement of environmental factors and infectious agents like bacteria and viruses in its development. Nevertheless, data on the potential link between influenza infection and GCA are limited. In this report, we present the case of an 88-year-old patient diagnosed with GCA following a severe influenza A infection.

Gossypiboma, a term used to describe a retained foreign body mass of cotton (sponge, abdominal mop or gauze) within the body after a surgical procedure, is an uncommon but serious surgical complication. It can manifest with various clinical presentations and often leads to delayed diagnosis and significant morbidity. This report highlights the need for a repeat exploration at the end of open abdominal surgeries as routine. The case presented is that of a young female who underwent open myomectomy in an outreach setting, and subsequently developed symptoms of an acute abdomen due to a retained abdominal mop seen at surgery. The abdominal mop seen at laparotomy had migrated transmurally and became trapped within the ileum and ileocecal junction. After removal of the intra-luminal abdominal mop and abdominal closure, she had post-operative malnutrition and anaemia that were corrected as she regained full recovery. The incidence of gossypiboma is believed to be underestimated in developing countries, and surgical sponges are the most frequently retained foreign bodies. Accurate estimates of the incidence are challenging due to socio-cultural impediments and fear of litigation. Prompt recognition and prevention of gossypiboma are crucial to avoid associated complications and improve patient outcomes.

The vein of Galen aneurysmal malformation is a rare congenital malformation of the cerebral blood vessels. It is a result of the persistence of an embryonic vessel that drains multiple arteriovenous shunts. This malformation can cause a multitude of symptoms ranging from cardiac failure to headaches depending on the age of presentation. In the fetus, cardiac manifestations are rare and are linked to a very poor prognosis. That's why prenatal diagnosis is crucial in early detection and management. We present a case of a vein of Galen aneurysmal malformation, diagnosed prenatally with ultrasonography. The newborn developed widely a high-output cardiac failure. Prenatal diagnosis facilitates the early detection of this malformation as well as predicting the prognosis.

This case report describes the therapeutic trajectory of a 47-year-old male ultra football fan from Switzerland, who was diagnosed and treated for attention-deficit/hyperactivity disorder, together with comorbid alcohol misuse and insomnia. Prior to this episode of care, the patient exhibited symptoms of impulsivity and inattention and persistent patterns of harmful alcohol consumption, recurrently participating in football-related violence. A multimodal approach involving psychotherapy and psychopharmacology yielded notable improvements in symptom management. To date, the patient has shown improved psychosocial functioning, reporting a significant reduction in alcohol use and the cessation of all aggressive acts. Consequently, this case provides insights into the relationship between attention-deficit/hyperactivity disorder and football-related violence, underlining the potential for tailored mental health interventions to enhance overall quality of life.

Opsoclonus-myoclonus syndrome is a rare neurological condition characterized by opsoclonus, myoclonus, ataxia, irritability, and sleep disturbances. In pediatric patients, symptoms usually start between 16 and 18 months of age; opsoclonus-myoclonus syndrome presentation in children under 6 months is rare. Approximately 50% of cases are associated with neuroblastoma. We report an early onset presentation of opsoclonus-myoclonus syndrome in a previously healthy, 3-month-old female infant. The diagnostic workup revealed no abnormalities. The patient underwent monthly cycles of dexamethasone pulses and intravenous immunoglobulin with a favorable response. After a few months, the patient presented intermittent opsoclonus before the next scheduled pulse so from the 9th cycle onwards, the intravenous immunoglobulin dose was increased to 2 g/kg. After 9 months of treatment, she was diagnosed with a latent Mycobacterium tuberculosis infection. Due to this infection, dexamethasone pulses were discontinued, and intravenous immunoglobulin treatment was maintained with clinical improvement The patient received 18 intravenous immunoglobulin cycles, leaving her with a score of one on the Mitchell-Pike scale. Developmental milestones have been attained according to age. Despite the range of therapeutic options for managing opsoclonus-myoclonus syndrome described in the literature, the efficacy of these available therapies needs to be better established. A modified upfront approach with dexamethasone and intravenous immunoglobulin could be an option in settings where rituximab is unavailable.

Tuberculosis is a rare but treatable infectious disease that continues to pose a significant health issue in regions with high prevalence. Its abdominopelvic localization can mimic advanced ovarian cancer, leading to diagnostic challenges. This report describes the case of a 33-year-old woman who was admitted to the gastroenterology unit with ascites, peritoneal thickening, and an ovarian mass on imaging. The diagnosis of abdominopelvic and peritoneal tuberculosis was confirmed after laparoscopy. The patient underwent antitubercular chemotherapy and showed clinical improvement.

This case series describes the wide spectrum of clinical presentation, laboratory findings, and morbidity/mortality associated with dengue fever in hematopoietic stem cell transplant recipients, treated in a dengue endemic region. The risk of acquiring viral infections increases manifold after transplant due to the severely immunocompromised state amid conditioning toxicity and immunosuppressive therapy. The classical warning signs of dengue viremia are often masked in posttransplant patients, leading to a missed diagnosis of dengue and grave consequences observed in some of the patients. Accurate and timely diagnosis of dengue fever especially in dengue prevalent areas can prevent the unwarranted complications and reduce the morbidity and mortality associated with dengue in allogeneic/autologous transplant recipients.

Deep venous thrombosis is a common and potentially life-threatening condition that is often associated with various risk factors including underlying malignancy. In this case report, we present a male patient who presented with deep venous thrombosis as the earliest presenting feature of metastatic gallbladder carcinoma. This case report emphasizes the importance of thorough evaluation of patients presenting with unprovoked deep venous thrombosis to early detection of underlying malignancy.

Primary hyperparathyroidism (PHPT), an endocrine disorder most commonly caused by parathyroid adenoma (PTA), manifests with a diverse array of symptoms, reflecting the multisystem impact of parathyroid hormone: nephrolithiasis, peptic ulcer disease, psychiatric disorders, muscle weakness, constipation, polyuria, pancreatitis, myalgia, and arthralgia. Rarely do these PTA attain a significant size. PHPT is usually diagnosed through biochemical tests, and radiological imaging characterizes the adenoma. Serum 25-hydroxyvitamin D levels are useful in explaining the large adenoma size. Here, we report a rare case of a 60-year-old female from Morocco who presented with marked dyspnea due to a giant PTA.