Clinical Case Reports最新文献

Guillain-Barré Syndrome (GBS) can be the initial presentation of Systemic Lupus Erythematosus (SLE). Neurologists should consider SLE as a differential diagnosis in patients with limb tingling and weakness, adapting treatment accordingly for optimal management.

Galactosemia is a rare autosomal recessive metabolic disorder with four main types, and classic galactosemia is the most prevalent. These patients have galactose-1-phosphate-uridyltransferase deficiency. We report on a case of an infant who was admitted with poor feeding, lethargy, and poor weight gain. Based on the clinical symptoms and laboratory findings, the patient was considered to have a metabolic disorder. The patient had unusual presentations such as macrocytic anemia requiring blood transfusions, repeatedly metabolic acidosis requiring bicarbonate therapy and failure to thrive in addition to neurodevelopmental delay which led the authors to different diagnoses and suspect to mitochondrial disorders. Finally, in one of the assessments before blood transfusion, a high galactose-1 phosphate was detected, and galactose-free diet was started which led to neurologic and physical of the child. The whole-exome sequencing (WES) also revealed a likely pathogenic homozygous mutation in GALT (c.794 C>G, p. Pro265Arg) confirming the diagnosis of classic galactosemia. In Iran, global neonatal metabolic screening is not done for galactosemia which results in late diagnosis of the affected patients. So, we suggest adding galactosemia to neonatal metabolic screening in Iran.

Bartholow AH. Fiberoptic endoscopic assessment of dysphagia in a patient with cutaneous and oropharyngeal blisters. Clin Case Rep. 2024; 12:e8660. doi:10.1002/ccr3.8660

In the abstract of the article, the first line reads “dysphagia resulting from bulbous pemphigoid is a rare but significant manifestation.” The word “bulbous” is incorrect. The word “bulbous” needs to be replaced with “bullous.” The first line should have read “dysphagia resulting from bullous pemphigoid is a rare but significant manifestation.”

We apologize for this error.

This report highlights a severe manifestation of chronic kidney disease-mineral and bone disorder (CKD-MBD) in a hemodialysis patient: periarticular calcifications causing recurrent inflammation mimicking infection. Diagnostics excluded infections and autoimmune disorders, identifying CKD-MBD as the cause. Low-dose prednisolone effectively mitigated inflammation, reducing hospitalizations.

Periorbital purpura, also known as “raccoon eyes,” is the key finding in identifying hematological disorders such as amyloid light chain amyloidosis, multiple myeloma, or monoclonal gammopathy of undetermined significance.

Hepatic hydatid cysts in pediatric patients present unique diagnostic and therapeutic challenges due to their rapid growth and potential to mimic other pathologies. This case highlights the importance of considering hydatid disease in the differential diagnosis of hepatic cysts, especially in children from endemic regions. The unusual rapid growth rate observed in pediatric cases, influenced by age-related immune and tissue dynamics, underscores the need for heightened vigilance even when prior imaging appears normal. Timely recognition and intervention are crucial to preventing complications such as cyst rupture, secondary infection, and compression of adjacent organs. This case also illustrates the utility of serological and radiological tools in confirming the diagnosis and the role of surgical and pharmacological therapies in ensuring favorable outcomes. Clinicians must remain alert to atypical presentations, ensuring comprehensive evaluation and prompt treatment to improve prognosis and reduce the burden of complications associated with hydatid disease.

The third generation of epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs) is recommended universally as the standard treatment for non-small cell lung cancer (NSCLC) carrying the EGFR T790M mutation. With the approval of multiple third-generation EGFR-TKIs, questions have arisen regarding the differences in their efficacy and how to select the most appropriate agent for individual patients. The study reports a case of an advanced NSCLC patient with multiple brain metastases. The patient initially received the pemetrexed plus carboplatin (PC) regimen for 5 months and displayed stable disease. Upon disease progression, the patient was treated with aumolertinib as second-line treatment due to the detection of EGFR L858R and T790M mutations, but the symptoms of brain metastases deteriorated. Switching to osimertinib successfully relieved the patient's symptoms and achieved a long progression-free survival (PFS) of nearly 2 years. Leptomeningeal metastasis was then definitively diagnosed, and the patient eventually died approximately 4 months after osimertinib resistance. This case suggests that osimertinib may be a viable option for EGFR-mutant NSCLC patients after aumolertinib failure, especially for those with intracranial metastases.

Anterior spacing caused by missing upper lateral incisors and edge-to-edge position in the front teeth can negatively affect the appearance of a person's smile, leading to mental and social distress. A 29-year-old woman approached with the issue of edge-to-edge anterior occlusion, upper and lower spacing, missing lateral teeth, and improper occlusion. The treatment plan involved an interdisciplinary approach with orthodontics, implants, periodontics, and prosthodontics. After orthodontic treatment, third molar extraction and two buccal shelf mini screws were recommended to distalize the lower posterior teeth and retract the lower incisors using a power chain. Gingivoplasty and veneer restorations were performed on teeth 14–24 to improve the patient's smile aesthetics. The interdisciplinary approach used in this case involved fixed orthodontics, periodontal surgery, and prosthodontics to manage and improve the patient's smile and facial appearance.

Lumbar spinal stenosis (LSS) represents an increasingly encountered disorder in current clinical practice, being unfavorably associated with chronic low back pain, progressive neurologic decline and disability. LSS represents the major etiology for spine surgery in elderly individuals. In the era of continuous development of novel full-endoscopic techniques, conventional open surgery with decompression of neural elements and with or without fusion of the compromised segment continues to represent the current gold standard for surgical management of these patients. In cases with foraminal stenosis, foraminal decompression with mobilization of the exiting nerve root represents the primary aim of surgery. However, intraoperative proper identification of the extent of decompression may be problematic in specific cases with significantly altered anatomy. The aim of this clinical image is to present a rare case of a patient with symptomatic foraminal stenosis, in which the rate of satisfactory foraminal decompression was intraoperatively verified via routine C-arm fluoroscopy. To our best knowledge, the utilization of fluoroscopy for verification of the extent of decompression in lumbar foraminal stenosis has never been reported in contemporary literature. Therefore, except for routine localization purposes, intraoperative fluoroscopy may be considered an additional measure to assess foraminal decompression in such cases.

Scabies is common in the Democratic Republic of Congo, often underestimated, including in infants. In this report, a 4-month-old's irritability, nocturnal itching, insomnia, and skin rashes raised suspicion, confirmed by parasitological examination. The father's lack of infestation despite sharing the bed with the infant and his mother poses a question.