Clinical Case Reports最新文献

Trichodysplasia spinulosa is a rare dermatological condition caused by a virus that predominantly affects immunosuppressed individuals. In this patient population, including organ transplant recipients, it is essential to maintain a high index of suspicion for possible infectious causes of persistent dermatologic conditions. Early diagnosis can facilitate treatment and help avoid disease progression and complications.

Bilateral mandibular premolar agenesis is rare, and it is essential to retain the primary teeth until they can be replaced with dental implants. Although internal root resorption and periapical lesions in primary teeth have a poor prognosis, MTA dressing and restoring teeth with SSC impede the progress of internal resorption.

Identifying neurometabolic disorders that lead to neonatal encephalopathy is difficult, and access to exome sequencing is a significant advantage in developing countries. We present a case of neonatal encephalopathy characterized by refractory seizures and significant apnea resulting from glutaminase deficiency, along with elevated levels of glutamine and glycine in the cerebrospinal fluid. Although the condition was fatal, it was possible to offer genetic counseling and recommendations for future pregnancies following exome sequencing.

The timely recognition of pneumothorax during painless flexible bronchoscopy (PFB) can be challenging. This report describes two consecutive cases of pneumothorax following PFB, both of which were promptly identified and successfully treated. A sudden decrease in heart rate, combined with hypoxemia, is highly effective for detecting pneumothorax in patients undergoing PFB, with subcutaneous emphysema serving as a key auxiliary diagnostic sign. Remimazolam may provide significant clinical benefits in emergency situations during PFB by allowing patients to be quickly awakened to assist with diagnosis.

Seronegative antiphospholipid syndrome (SN-APS) is uncommon and challenging condition, which should be included in the differential diagnosis of stroke in young, since it can result in arterial thrombosis.SN-APS is typically diagnosed by exclusion; however, it is crucial to recognize it in order to choose the best antithrombotic treatment to lower the recurrence rate.

Fanconi anemia (FA) is a rare inherited disorder characterized by congenital abnormalities, progressive bone marrow failure, and a predisposition to malignancies. Detecting FA can be challenging, as it involves identifying increased chromosomal sensitivity to DNA cross-linking agents and detecting causative genetic variants via genome sequencing. We report two cases of siblings with FA, both confirmed to have the FANCD2 variant through whole-exome sequencing (WES). The first patient presented with epistaxis, petechiae, ecchymosis, and lower limb edema. The second patient exhibited epistaxis, diabetes, developmental delay, and physical abnormalities. Interestingly, both patients had negative results on the initial chromosomal breakage test with mitomycin C, a commonly used diagnostic tool for FA. However, further investigation with WES revealed the presence of the FANCD2 variant, confirming the FA diagnosis. This case report highlights the challenges in diagnosing FA, particularly when initial screening tests yield negative results. Molecular genetic testing, such as WES, can provide a definitive diagnosis and guide appropriate management strategies. Early and accurate diagnosis is crucial for improving outcomes in individuals with this potentially fatal illness, as promising advancements in treatments such as hematopoietic stem cell transplantation and gene therapy offer hope for addressing FA.

A giant unruptured left sinus of Valsalva aneurysms is extremely rare. Even if asymptomatic, surgical repair should be performed, considering comorbidities, and patient's physical condition. In this case, patch repair with coronary artery bypass, correction of sinotubular junction, and aortic annulus for aortic regurgitation benefited the older patient.

We report the sudden onset of dyspnea and loss of consciousness and fetal bradycardia in a middle-aged obese nulliparous woman at 39 weeks of gestation during first stage of labor leading to the decision for emergency cesarean section. Still during surgery, the mother underwent cardiac arrest. Transesophageal echocardiography during resuscitation showed right ventricular failure leading to the diagnosis of pulmonary embolism. Return of spontaneous circulation was achieved after emergency administration of thrombolysis with alteplase and cardiopulmonary resuscitation after 40 min. Severe bleeding, coagulopathy and persistent right ventricular failure resulted in persistent hemodynamic instability leading to supracervical hysterectomy and veno-arterial extracorporal life support. Both mother and baby survived without hypoxic brain injury.