AME Case Reports最新文献

Background: Multiple endocrine neoplasia type 2B (MEN2B) is a rare autosomal dominant syndrome characterized by medullary carcinoma of the early thyroid, pheochromocytoma, and non-endocrine manifestations, such as marfanoid habits and other skeletal abnormalities as well as mucosal neuromas and ganglioneuromatosis of the gastrointestinal tract.

Case description: A 10-year-old male began follow-up at our service at 3 years of age through pediatric gastroenterology due to intestinal constipation. The mother also reported that the child had painless lesions on the tip of the tongue since birth with progressive worsening. The patient simultaneously began follow-up with pediatric endocrinology due to low gains in weight and height, between which only isolated low weight was found, and the onset of follow-up with the pediatric neurology team due to longstanding headache combined with vomiting, photophobia, and phonophobia as well as a specific reading and writing disorder. The patient was sent to clinical genetics. The child's karyotype was 46, XY (normal). Through a physical examination, the pediatric neurology team identified joint hypermobility, important muscle hypotrophy, gingival hypertrophy, and lipodystrophy. The patient was sent to neurogenetics, initiating a set of general laboratory exams for the investigation of the lipodystrophy and a panel of exams for lipodystrophy, neuropathy, and muscle hypotrophy as well as electroneuromyography. MEN2B due to genetic mutation was confirmed and the patient was sent to the pediatric endocrinology clinic for follow-up. Currently 10 years of age and again with the pediatric endocrinology team for the diagnosis of MEN2B, the investigation of pheochromocytoma and medullary thyroid cancer was initiated.

Conclusions: An additional mutation occurs in most cases of MEN2B. The diagnosis is only established when the child or, in most cases, adolescent presents with medullary thyroid cancer in an advanced and even metastatic stage. However, non-endocrine manifestations, can lead to an early diagnosis and timely intervention. The diagnosis of MEN2B is made with the confirmation of the autosomal dominant genetic mutation or a mutation of the RET gene. In the absence of these mutations, the majority of clinical manifestations should be present.

Background: Asymptomatic congenital pulmonary airway malformations (CPAMs) and congenital lobar emphysema (CLE) may safely be observed, though little is known about how many patients later require surgery. The management of these lesions remains controversial, as limited research exists on which patients later require surgery. Notably, there are few reported cases where patients become symptomatic and require definitive treatment beyond childhood.

Case description: We present the rare case of a 17-year-old female who developed dyspnea on exertion associated with pre-syncope, following diagnosis of a CPAM at birth. She had undergone surveillance until 2 years of age. The decision to proceed with a left upper lobectomy via thoracotomy was made, for treatment of her symptoms. During the surgery, one lung ventilation suggested that oxygenation had likely limited to the patient's healthy lung, prior to intervention. The surgery was uncomplicated, and her recovery was uneventful. Pathology revealed CLE.

Conclusions: This case highlights that congenital lung malformations should remain in the differential diagnosis of patients presenting in adolescence or adulthood with new onset respiratory symptoms. For patients with a history of untreated congenital lung pathology, it is important to consider the presence of adhesions and loss of domain in perioperative planning. This case also highlights the ongoing need for research on the prognostication of these lesions to better inform surveillance.

Background: Breast cancer has the potential to metastasize to various sites; however, cases of metastasis to the cervix are rare. Here, we present clinical and pathological data from a rare case of primary breast cancer metastasis to the cervix, including imaging characteristics and clinical progression.

Case description: A 68-year-old female patient self-detected nodules in her right breast. B-ultrasound examination revealed multiple nodules in the right breast, classified as Breast Imaging Reporting and Data System (BI-RADS) 4c. Radical treatment for right breast cancer was commenced. Histopathologic diagnosis revealed invasive ductal breast carcinoma of no specific type, with intraductal carcinoma in the right breast. Immunohistochemical analysis indicated that the tumor was androgen receptor (AR)-diffuse strong positive, estrogen receptor (ER)-negative, progesterone receptor (PR)-negative, with human epidermal receptor-2 (HER2, c-erbB-2) overexpression, and Ki-67 proliferation index 60%. The tumor was positive for GATA binding protein 3 (GATA-3) and fluorescence in situ hybridization (FISH) analysis revealed HER2 gene amplification. Chemotherapy was discontinued after completing three cycles. Three years after stopping chemotherapy, she experienced lower abdominal, pain with cervical bleeding, and underwent aspiration biopsy. Immunohistochemical results indicated: AR-diffuse strong positive, ER-negative, PR-negative, c-erbB-2-negative, and Ki-67 30%, with gross cystic disease fluid protein-15 (GCDFP-15) and GATA-3 both diffuse strong positive. Lung mass detection prompted lung puncture and biopsy, with immunohistochemical results: ER-negative, PR-negative, c-erbB-2-positive, Ki-67 30%, with GCDFP-15-diffuse positive, and GATA-3-diffuse positive. No HER2 gene amplification was detected by FISH. She was diagnosed with ductal breast carcinoma metastasized to the uterus and lung, based on morphological, immunohistochemical, and clinical findings. Eight months later, she developed a neck mass, and mass puncture and biopsy confirmed metastatic breast cancer [immunohistochemical results: ER-negative, PR-negative, c-erbB-2-positive, Ki-67 30%, trichorhinophalangeal syndrome type 1 (TRPS1)-positive, and GATA-3-positive]. The primary tumor was ER-negative, PR-negative, with HER2 amplification. Later, cervical, pulmonary, and neck metastases were ER-negative, PR-negative, and HER2 negative. The patient remains alive; last follow-up was February 15, 2024, 50 months after radical treatment for breast cancer.

Conclusions: We report a relatively rare case of primary breast cancer metastasis to three metastatic sites: cervix, lung, and neck. To our best knowledge, this is the first report of primary breast cancer metastasis to three sites including the cervix.

Background: Herpes simplex virus (HSV) encephalitis is the most common nonepidemic encephalitis and can result in temporal lobe necrosis. Inflammation of the temporal lobe can result in temporal lobe epilepsy which is known to cause psychiatric symptoms.

Case description: We describe the case of a geriatric male patient who was admitted for new-onset visual hallucinations and other neuropsychiatric symptoms which began five days prior to admission. His lab work was unremarkable, and a computed tomography (CT) scan of the brain demonstrated small vessel ischemic disease. There was clinical suspicion for seizures, and electroencephalogram (EEG) monitoring showed focal seizure activity in the right hemisphere. He received a brain magnetic resonance imaging (MRI) which was suspicious for encephalitis. Various etiologies were considered, and he received an extensive workup including cerebrospinal fluid evaluation. Ultimately, he improved with empiric antiviral treatment added alongside multiple antiepileptic agents. The seizure control and resolution of symptoms with antiviral treatment, in addition to the findings of his central nervous system (CNS) workup, confirmed the presumptive diagnosis of HSV encephalitis.

Conclusions: Understanding the multifactorial causes of neuropsychiatric symptoms is important in determining an appropriate workup. The acute onset of specific symptoms in our patient increased suspicion for a structural neurological process. His initial presentation could largely be explained by the vascular dementia and epileptiform activity that were discovered during hospitalization. However, his refractory seizures were suggestive of another underlying etiology. The localization of his seizures and MRI findings were suggestive of HSV encephalitis despite negative HSV polymerase chain reaction (PCR). A patient may benefit from antiviral treatment when the clinical picture is consistent with HSV encephalitis even in the setting of negative serological studies. Clinicians should also be mindful of false negatives on serological tests.

Background: Synovial sarcoma (SS), a malignant and uncommon soft tissue sarcoma, typically manifests in the extremities and trunk. However, its occurrence in the infratemporal fossa (ITF) of the head and neck is exceedingly rare. Patients afflicted with SS in this anatomical region pose considerable challenges, as radical surgery is often difficult to undertake, leading to a high rate of postoperative recurrence. Moreover, it is often difficult to effectively control the tumor when the cancer relapses. Much of our understanding regarding SS of ITF stems from limited case reports, with a lack of established clinical guidelines for its management. There exists a significant clinical need for effective therapeutic approaches.

Case description: This case report documents a patient with SS of ITF, experiencing repeated recurrences despite undergoing multiple surgeries and chemotherapy treatments. The patient underwent HyperArc (HA) radiotherapy (RT) in conjunction with concurrent chemotherapy utilizing cisplatin, resulting in a remarkable 3-year follow-up period devoid of recurrence.

Conclusions: The primary objective of this case report is to disseminate knowledge regarding this rare manifestation of SS of ITF, detailing the successful treatment strategy employed. In this case, we employed a comprehensive treatment strategy involving concurrent chemoradiotherapy based on HA. Our findings demonstrate that this approach was effective in achieving disease control and improving patient outcomes.

Background: Post ambulatory swollen hands (POTASH) is an acquired condition that presents as asymptomatic swelling of the hands and their digits during ambulatory activities such as walking, hiking, and running. Affected individuals cannot clench their fingers into their palm to make a fist and thereby have a positive fist sign. The benign condition typically resolves spontaneously within 2 hours with complete resolution of the swelling; the individual can make a tight fist and has a negative fist sign.

Case description: A 65-year-old man developed POTASH, when he was rapidly walking during a 13.1-mile half marathon race, that presented as asymptomatic swelling of his fingers and hands. His hands and their digits began to swell after the first hour of running and continued to progressively become larger during the remainder of the race. In addition, he had a positive fist sign demonstrated by being unable to clench his fingers to his palm and make a fist. Within 2 hours after he stopped ambulating, the swelling spontaneously resolved completely, and he had a negative fist sign by being able to make a tight fist by clenching his fingers into his palm.

Conclusions: POTASH is an idiopathic recurrent condition whose pathogenesis remains to be determined. A report of occurrence in a brother and sister raises the possibility that in some individuals, genetic factors may have a contributory role in the etiology of the condition. There is a paucity of papers on POTASH in the medical literature which suggests a lack of awareness of this condition. It is important that healthcare providers are aware of this recurrent and benign condition and can appropriately counsel affected individuals.

Background: Guillain-Barré syndrome (GBS) is an acute/subacute immune-mediated polyneuropathy characterized by varying degrees of limb or cranial nerve involvement, manifested as limb weakness, absent tendon reflexes, and sensory and autonomic dysfunction caused by demyelination and/or axonal damage of peripheral nerves and nerve roots. Upper respiratory tract infections and gastroenteritis are the most important triggering factors, but the occurrence of explosive GBS after injection of ranibizumab is very rare.

Case description: A 53-year-old female was diagnosed with left branch retinal vein occlusion (RVO) and underwent three intravitreal injections of ranibizumab (0.5 mg) in the left eye. After the third injection, she developed weakness, numbness, and tingling in the limbs, which worsened to respiratory muscle paralysis requiring mechanical ventilation and tracheostomy. Cerebrospinal fluid showed protein-cell dissociation, a positive anti-ganglioside antibody spectrum, and electromyography revealed multiple demyelinating changes in peripheral nerves. The diagnosis was GBS. After treatment with immunoglobulin (25 g) therapy, the patient improved. After two months of treatment, the tracheotomy site healed well, and the patient was able to walk independently and perform basic activities of daily living. After one year of follow-up, the patient did not experience a relapse and was basically cured. This successful outcome highlights the importance of promptly recognizing and treating GBS induced by ranibizumab, which is crucial for optimizing patient outcomes and preventing potential life-threatening consequences in patients with RVO.

Conclusions: This case underscores the potential occurrence of GBS in patients undergoing ranibizumab treatment for RVO. It highlights the importance for clinicians to promptly recognize and diagnose GBS, initiate appropriate interventions, optimize patient outcomes, and prevent potential life-threatening consequences.

Background: Bronchoscopy is widely used in clinical diagnosis and treatment of respiratory diseases. Although it is generally safe, cardiac complications such as acute myocardial ischemia and arrhythmia can also occur in patients especially with comorbidities and in elderly ones. Acute malignant coronary vasospasm as a severe cardiac complication can occur during bronchoscopy. It is essential to observe the occurrence of complications and provide early curing.

Case description: We presented a case of a 52-year-old man who experienced chest pain, dyspnea and even shock during bronchoscopy. Electrocardiogram (ECG) showed an acute muti-leads ST-segment elevation and declined to baseline soon after emergent medication treatment including antithrombotic, expansion of coronary artery and fluid replenishment myocardial infarction. Coronary artery spasm was considered according to the clinical symptom and ECG characteristics. Subsequent coronary angiogram which showed normal coronary artery also supported the diagnosis of coronary artery spasm. The symptom of the patient was discovered timely and was treated successfully with good prognosis.

Conclusions: Bronchoscopy is the main and important method of diagnosis and treatment for respiratory diseases. Coronary artery spasm as a serious cardiac complication should be paid more attention during bronchoscopy. Timely and appropriate treatment may lead to better clinical results. Multidisciplinary cooperation plays a key role in the whole therapy. The potential triggers of coronary artery spasm during bronchoscopy mainly include low oxygen, hypersensitivity reactions and chronic inflammatory.

Background: Splenic rupture associated with trauma is common within the population, however, spontaneous splenic rupture is noted to be a rarity in clinical practice. Spontaneous splenic rupture is usually associated with hematologic, neoplastic, or infectious disorders, with infectious mononucleosis associated with Epstein-Barr virus being the most common cause worldwide. Spontaneous splenic rupture without underlying cause is thought to be exceedingly rare. In this article we present a case involving a true spontaneous splenic rupture.

Case description: We present the case of a 73-year-old female with past medical history significant for hypothyroidism, hypertension, squamous cell carcinoma of the chest, and history of tobacco use who presented to the emergency department with acute onset of left-sided flank pain radiating to her shoulder beginning three days prior. Computed tomography of the abdomen and pelvis without contrast revealed an acute splenic injury concerning for rupture with contour obscured by blood products with associated mild to moderate hemoperitoneum. The decision was made to proceed with emergent exploratory laparotomy and splenectomy. Patient received her post splenectomy vaccinations. On follow-up appointment, patient was noted to be doing well.

Conclusions: This case highlights the importance of early diagnosis and treatment of atraumatic splenic rupture, as delayed diagnosis and treatment is associated with significant morbidity and mortality. Operative intervention including splenectomy remains the mainstay of treatment, in addition to appropriate resuscitation. Some authors have reported cases in which hemodynamically stable patients are able to be treated non-operatively, however, the long-term consequences are unknown. Atraumatic spontaneous splenic rupture is often low on the differential diagnoses due to its rarity. Unfortunately, it carries a high risk of morbidity and mortality, and thus timely diagnosis and intervention is imperative.

Background: Despite its life-threatening nature, serotonin syndrome (SS) often eludes initial recognition and remains an underreported condition that can occur with the administration of serotonergic drugs alone or in combination with other medications known to increase levels of serotonin. The diagnosis of SS relies on clinical assessment, as laboratory tests and imaging studies cannot definitively confirm the condition. The majority of reported cases of SS involve polypharmacy rather than single-drug overdose. Diagnosing SS can be challenging for physicians, particularly in the intensive care unit (ICU) settings where patients often present with multiple comorbidities. Nevertheless, SS should be considered in the differential diagnosis, mainly when the treatment regimen includes multiple serotonergic medications.

Case description: We present a case of SS that developed in a patient following the administration of fentanyl. The patient had a medical history of opioid use disorder and was on buprenorphine, amitriptyline, and pregabalin. Symptoms indicative of SS appeared within four hours after fentanyl was administered and began to improve within six hours after cessation of the potential offending agents, with complete resolution occurring within 24 hours.

Conclusions: Our case underscores the significance of conducting a thorough neurological examination and medication assessment for the prompt diagnosis of SS. Additionally, it examines the medications that could have potentially triggered the events described in this case.