Clinical Case Reports最新文献

This case series presents the use of elamipretide in two patients with different progressive mitochondrial disorders (chronic progressive external ophthalmoplegia [CPEO] plus and neuropathy, ataxia, and retinitis pigmentosa [NARP] syndrome) characterized by ophthalmic traits. Elamipretide was well tolerated and both patients demonstrated improvement in symptoms while on therapy.

A rare case of ischemic stroke in a young adult demonstrating coexistence of moyamoya disease and carotid web in angiography was reported. Early recognition and prompt intervention should be stressed in individuals with cryptogenic stroke.

Chromosomal trisomy syndrome is associated with diverse clinical phenotypes, including intellectual disability. Partial trisomy of the distal 17q is a rare anomaly with similar clinical features, including psychomotor and growth deficits, facial dysmorphism, and microcephaly. Here, we describe three patients from two unrelated families with terminal trisomy 17q. We performed G-banding karyotype and chromosomal microarray analyses. The child in Family 1 had a 31.3 Mb mosaic duplication on chromosome 17. Family 2 comprised dizygotic twins with a 263 kb deletion on chromosome 15 and a 9.2 Mb duplication on chromosome 17; however, normal karyotyping results were obtained for both parents. We also analyzed the genetic mechanisms underlying the occurrence of these chromosomal aberrations and summarized the literature describing known genotype–phenotype correlations. Given the rarity of partial trisomy of terminal 17q, these cases will provide new insights into the diagnosis of this condition and genotype–phenotype correlations, which can aid in the detection of such conditions and genetic counseling.

Lichen sclerosus is a chronic, immune-mediated dermatologic disorder primarily affecting the genital skin. Extragenital lichen sclerosus is rare, especially in men. We present a case of ELS in a 23-year-old male with lesions on the left upper extremity that had persisted for seven years. Over time, the lesions gradually spread to the left upper arm and scapular region. These lesions followed a band-like distribution along Blaschko’s lines, without associated pruritus or pain. This unusual presentation posed a diagnostic challenge, highlighting the rarity of such manifestations.

Maxillary sinusitis is a recognized complication following dental procedures, but its occurrence after orthognathic surgery, such as Le Fort osteotomies, remains less documented. This case report presents a 58-year-old female who developed unilateral maxillary sinusitis 23 years post-orthognathic surgery. The patient was asymptomatic, aside from occasional cacosmia, and was incidentally found to have sinus opacification on a computed tomography (CT) scan performed for implant-prosthetic rehabilitation. Nasal endoscopy revealed purulence and mucosal edema, prompting endoscopic sinus surgery (ESS). Intraoperatively, purulent material and fungal debris were removed from the maxillary sinus, confirming bacterial sinusitis with a concurrent fungal ball. S. salivarius and Klebsiella species were identified from the cultures. The patient's condition improved following the removal of both the sinus contents and the retained titanium plates and screws. This case underscores the potential for maxillary sinusitis to develop long after orthognathic surgery, particularly in the presence of retained dental hardware. It highlights the importance of thorough imaging and endoscopic evaluation in patients with a history of dental or facial surgeries presenting with sinonasal symptoms. Additionally, it raises questions about the role of retained hardware in the persistence or recurrence of infection and the possible association with fungal ball formation. The need for further research to establish guidelines for the management of sinusitis in such contexts, particularly regarding the removal of facial hardware, is emphasized.

This case report discusses the pathophysiology, clinical manifestations, and dental implications of very long-chain acyl-CoA dehydrogenase deficiency (VLCADD). If undiagnosed, VLCADD can be life-threatening. Dental professionals must ensure patient safety through adequate knowledge, proper nutrition and glucose management, as well as genetic counseling in cases of consanguineous marriages.

Stevens–Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are severe mucocutaneous reactions, often triggered by medications, characterized by blistering and epithelial sloughing. We report the case of a 66-year-old male who presented with a 2-day history of fluid-filled lesions on his body. On examination, erosions were observed on the posterior and anterior trunk, as well as on both upper and lower limbs. Multiple vesicles and bullae were scattered bilaterally, involving 60%–70% of the body surface area. Co-trimoxazole-induced SJS was diagnosed. The patient was admitted to the ICU and treated with dexamethasone, hydrocortisone, imipenem, and azithromycin. Corticosteroids, combined with broad-spectrum antibiotics, were effective in managing the condition. Early intervention and a multidisciplinary approach helped prevent complications and secondary infections.

Corticosteroid-induced psychosis is rare and less reported in children compared to adults. However, psychosis is considered a severe adverse effect of corticosteroids in pediatric nephrotic syndrome. Steroid-induced psychosis is dose-dependent and should be treated by tapering the dose of steroids and usually initiating an atypical antipsychotic. A 13-year-old male child presented to the pediatrics outpatient department with complaints of anxiety, fearfulness, and seeing images of an old man crawling into his room and threatening to strangle him with a red rope, which led to decreased sleep. He was initiated on oral prednisolone 3 weeks ago after being diagnosed with nephrotic syndrome. A diagnosis of steroid-induced psychosis was made, and he was tapered on steroids over 6 weeks. He was then initiated on tacrolimus, quetiapine, and lorazepam and was discharged after a week. At follow-up in 4 weeks, his psychosis had resolved, and nephrotic syndrome was found to improve. Children on steroids should be closely monitored for psychotic symptoms over a prolonged duration. Although tapering the dose of steroids is the gold standard treatment of steroid-induced psychosis, cases like nephrotic syndrome demand the continuous use of an immunosuppressant. In such cases, tacrolimus has been found to be an effective alternative, although continuous monitoring for nephrotoxicity is necessary. Similarly, atypical antipsychotics (like quetiapine) are preferred for psychosis because of their lesser risk for extrapyramidal side effects compared to typicals. Parental counseling and informed consent are utmost for children on steroids or tacrolimus.

Serum sickness is rare; however, there is a significant hypersensitivity reaction to streptokinase used in different cardiac problems. Treatment often involves discontinuing the offending agent and administering corticosteroids. This case underscores the complexities of managing prosthetic valve thrombosis and highlights the importance of monitoring and addressing complications of thrombolytic therapy.