Journal of medical cases最新文献

Noncommunicating hydrocephalus is a rare complication of aseptic meningitis and is predominantly characterized by the obstruction of cerebrospinal fluid (CSF) absorption. Traditional treatment methods include external ventricular drainage (EVD) and ventriculoperitoneal (VP) shunt. However, endoscopic third ventriculostomy (ETV) might also be effective in the case of aseptic meningitis. A 19-year-old woman presented with fever, lymphadenopathy, and arthritis, followed by headache and vomiting. Magnetic resonance imaging (MRI) showed no hydrocephalus. CSF analysis revealed mild pleocytosis and elevated protein levels, with negative cultures, leading to the diagnosis of aseptic meningitis. After an initial recovery with supportive care, the patient returned a month later with an acute progressive headache and altered consciousness. Computed tomography (CT) revealed lateral and third ventricular enlargement, while MRI showed cerebellar swelling and foraminal adhesions, indicative of obstructive hydrocephalus. ETV was performed through the right anterior horn of the lateral ventricle. Postoperative recovery was uneventful, and the patient remained asymptomatic after steroid treatment. ETV is a viable option for treating noncommunicating hydrocephalus associated with aseptic meningitis, even when CSF malabsorption is present.

Immune checkpoint inhibitors (ICIs) play a major role in current cancer treatments. They are associated with immune-mediated side effects due to immune dysregulation. ICI-mediated complications are more commonly known to affect thyroid gland, gastrointestinal system, skin, etc. Pulmonary arterial hypertension (PAH) due to ICIs is not very well described in the literature. Here, we report a case of severe PAH diagnosed in a patient with metastatic lung cancer on long-term pembrolizumab and literature review.

Molybdenum is a trace mineral that is a key component of several enzyme systems. In the human body, molybdenum is complexed with a pterin-based molybdenum cofactor (MOCO), to form the active center of molybdenum-based enzymes. MOCO is synthesized in a four-step process involving six proteins, iron, ATP, and copper. Defects in any of the individual genes involved in this biosynthesis can result in molybdenum cofactor deficiency (MoCD). MoCD is an autosomal recessive disorder with an estimated incidence of 1 in 100,000 - 200,000 live births. Although most patients appear normal at birth, intractable seizures typically develop within hours to days of life, along with feeding difficulties, and subsequent microcephaly, brain atrophy, and severe developmental delay. Mortality is high, with a reported median survival of 2.4 to 3 years. Given the associated end-organ involvement, anesthetic management may be required during radiologic imaging or surgery procedures. We present a 6-year-old child with MoCD type A, who required anesthetic care for a magnetic expansion control (MAGEC) rod insertion with posterior spinal instrumentation under general anesthesia. End-organ involvement of MoCD is presented, previous reports of anesthetic care reviewed, and options for perioperative management discussed.

Pancreatic adenocarcinoma is an aggressive malignancy that accounts for over 90% of pancreatic cancers. It is associated with a poor prognosis and a 5-year survival rate of less than 10%. In 2023, there were an estimated 64,050 new cases of pancreatic cancer and 50,550 related deaths. Common sites of metastasis include the liver, lungs, lymph nodes, and peritoneal cavity. While bone metastases can occur, metastatic disease involving the bones of the hand is exceedingly rare. In this report, we present a case of metastatic pancreatic cancer involving the trapezium bone of the hand, along with a review of the literature.

The inadvertent intra-arterial (IA) injection of medications can result in significant clinical sequelae, including paresthesia, pain, loss of motor function, compartment syndrome, gangrene, and loss of digits or limb. We present the inadvertent IA administration of rocuronium during intraoperative anesthetic care of a 16-year-old patient. Following the inhalation of incremental concentrations of sevoflurane in nitrous oxide and oxygen, an intravenous (IV) cannula was placed in the left antecubital fossa. Rocuronium was administered through an IV cannula to facilitate endotracheal intubation. The forearm and hand became mottled and it was determined that the cannula was in the brachial artery. During the ensuring 2 h, there was a gradual return of the extremity to its baseline appearance. The patient was discharged home and no further sequelae were noted. Previous reports of the IA injection of neuromuscular blocking agents are reviewed, techniques to prevent such problems discussed, and a pathway for treatment outlined.

The high rates of relapse following induction therapy for acute myelogenous leukemia (AML) warrant the investigation of novel chemotherapy regimens to better treat the disease safely. We report a case of refractory AML treated with CLAG (a combination of 2-chlorodeoxyadenosine, cytarabine, and granulocyte colony-stimulating factor (GCSF)), as a replacement for FLAG-IDA (fludarabine, cytarabine, G-CSF and idarubicin), due to a shortage of fludarabine, plus B-cell lymphoma-2 (BCL-2) inhibitor venetoclax (CLAG + VEN). A 38-year-old woman with a past medical history of systemic lupus erythematosus (SLE), managed on hydroxychloroquine, presented to her primary care provider with worsening fatigue and was found to have significant leukocytosis. The patient was diagnosed with AML on bone marrow biopsy (BMBX). The patient delayed care after the initial diagnosis but eventually started on a continuous infusion of cytarabine for therapy day (D) 1 - D7 and daunorubicin 60 mg/m² (D1 - D3) (7 + 3) induction chemotherapy. A BMBX was performed on D18 following induction therapy, revealing residual disease with 46% blasts, indicative of refractory AML. Three weeks after completing induction therapy, the patient underwent CLAG + VEN. After completing CLAG + VEN, she was found to be minimal residual disease (MRD)-negative and was determined to be an appropriate candidate for bone marrow transplant (BMT) following maintenance therapy with Onureg (azacitidine). The patient successfully underwent BMT and remains MRD-negative 1 year post-transplant. Treatment with CLAG + VEN was effective in achieving remission in this case, enabling this patient to successfully undergo BMT. This suggests a potential therapeutic benefit of combining venetoclax with traditional CLAG therapy in complex cases of AML.

Uterine fibroids, or myomas, are benign tumors affecting about 68.6% of women, with Indonesia's Hasan Sadikin Hospital reporting a prevalence between 2.4% and 12.46%. In pregnancy, the incidence drops to 0.1% to 10.7%, but fibroids can still lead to complications. This case study highlights the successful management of a complex pregnancy with multiple large uterine fibroids. A 36- to 37-week primigravida presented with a large intramural fibroid (20 × 15 × 10 cm) at the uterine fundus and six smaller fibroids in the anterior corpus. Despite these challenges, the pregnancy progressed without major issues. A cesarean section was performed, delivering a healthy baby weighing 2,815 g and measuring 46 cm. The case demonstrates effective management of a difficult obstetric situation, emphasizing the importance of tailored care and surgical skill in achieving favorable outcomes for both mother and baby.

Fatty acid oxidation disorders are inborn metabolic defects caused by impaired beta-oxidation of fats within the mitochondria. This occurs due to a deficiency in the pathway of fatty acids into the mitochondria via carnitine. Although their incidence is not frequent, the clinical presence of this disorder often leads to morbidity and high mortality. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is part of the large group of fatty acid oxidation disorders which has a high variability in clinical manifestations and in daily medical practice can be challenging to early and correctly diagnose. In this article, we present a 23-month-old boy with drowsiness, mild hypoglycemia, and rapid progression to acute liver failure as a consequence of this metabolic disorder. Once the diagnosis was confirmed, treatment was conducted following the guideline of hypoglycemia of the metabolic disorder of MCAD deficiency and its complications. The child was discharged in good condition and the follow-up after 6 months was successful. Further, we review the literature on this genetic condition and check on how they connect to our case. The article aims to focus on the early evaluation of the clinical signs that present from the underlying of this rare metabolic disorder and the importance of aggressive treatment to prevent complications that can be fatal for the patient.

Primary breast cancer occurring in accessory breast tissue is exceptionally rare, with an incidence of 0.2-0.6%. It can aggressively progress, often leading to early metastasis. Treatment is typically delayed due to the rarity, variety of differentials, and lack of clinical awareness of the disease. In axillary surgery, sentinel lymph node mapping in patients with axillary breast cancer is technically challenging and has been poorly described. Here, we present a case of a 53-year-old woman with a 0.5 × 1 cm hard lump in the right axillary region for 2 years, progressive growth for 6 months, and no concomitant breast lesion or axillary lymphadenopathy. Core needle biopsy revealed invasive ductal carcinoma with estrogen receptor and progesterone receptor expression and human epidermal growth factor receptor 2 negativity, whereas mammography and breast magnetic resonance imaging revealed no primary breast lesions. She was diagnosed with invasive cancer arising from an accessory breast and underwent wide total excision of the right accessory breast and sentinel lymph node biopsy. Sentinel lymph node biopsy can be successfully performed using intratumoral dye and subareolar radiocolloid mapping in accessory breast cancer surgery. Axillary accessory breast tissue is outside the scope of the screening breast examination; therefore, oncologists must be aware of this entity and associated pathologies.

The abnormal accumulation of lipid-rich adipose tissue within the interatrial septum (IAS) is the hallmark of lipomatous hypertrophy of the interatrial septum (LHIS), a relatively rare medical condition. To accurately distinguish LHIS, it is essential to recognize the characteristic "dumbbell" shape of IAS. Here, we present a case of a 59-year-old woman who was suspected of having cardiac myxoma and was subsequently admitted to our hospital. Transthoracic echocardiography of the patient showed that the IAS had a lack of thickening in the region of the foramen ovale and a hyperechogenic structure in the basal and vault portions of IAS. An abnormal mass located in the IAS anterior to the foramen ovale and not infiltrating the foramen ovale was discovered by computed tomography (CT) scan of the heart. The cardiac magnetic resonance imaging (MRI) confirmed the presence of significant fat deposition within the IAS with sparing of the fossa ovalis, which was consistent with the initial findings. The patient was discharged home with the recommendation of regular visits to the cardiology outpatient clinic for LHIS monitoring. The article presents the visualization of LHIS in consecutive diagnostic modalities, summarizes the actual knowledge of LHIS, and enables proper LHIS diagnosis in patients based on available imaging methods.