Case Reports in Medicine

Immune checkpoint inhibitors (ICI) are monoclonal antibodies that target immune checkpoint inhibitory receptors. They have revolutionised cancer treatment but can be associated with a wide range of adverse side effects. Rarely, they can be associated with the triad of myositis, myasthenia gravis, and myocarditis or overlap syndrome. Prompt recognition and early intervention are needed to treat these potentially life-threatening conditions. We report a case series of patients with ICI-related overlap syndrome, including the first with avelumab, and discuss the current management guidelines.

Idiopathic hypertrophic pachymeningitis (IHP) is a rare disease with diffuse thickening of the dura mater that has no specific clinical symptoms and manifestations and it causes neurosurgeons to misdiagnose. A 4-year-old girl presented at the emergency room of our hospital with speech difficulty and severe headache. Head computed tomography scans (CT scan) on admission revealed a large fluid collection over the right temporoparietal region with mass effect, and the neurosurgeon drained it with the initial diagnosis of subdural hematoma. However, the postoperative CT scan demonstrated the failure of surgical drainage; therefore, magnetic resonance imaging (MRI) was requested for the patient. MRI identified diffuse nodular dural thickening with internal septations and different internal hemorrhagic stages on the right side with no evidence of brain parenchymal involvement and according to the serology and autoimmune screening tests, and IHP was diagnosed for the patient. The patient underwent craniotomy. There was an immediate improvement of neurologic symptoms. The patient had good clinical and radiologic outcome at 3 -months follow-up. IHP should be part of the differential diagnosis of some cases of noncommunicating hydrocephalus; however, the rarity of the disease and the absence of specific clinical symptoms make the diagnosis difficult.

We report a case of Klebsiella pneumoniae invasive liver abscess syndrome (KPILAS) with endophthalmitis-caused blindness as the first symptom after enema. The patient had diabetes, and his blood glucose was poorly controlled. She developed hematuria after four enemas for cosmetic purposes and later became blind. The eye discharge was cultured, which revealed a Klebsiella pneumoniae infection. B ultrasound did not show liver lesions, but computed tomography exhibited abscesses in the right lobe of the liver. Magnetic resonance imaging of the head indicated abscesses. These confirmed the diagnosis of invasive liver abscess syndrome. The patient was given ophthalmic and systemic anti-infection treatments, and her condition was effectively controlled. Unfortunately, the diseased eye still needed to be removed. This case underlines the necessity of avoiding unnecessary risky procedures (such as enemas) in vulnerable populations, the importance of early detection of invasive liver abscess syndrome, and the advantage of computed tomography in detecting liver abscesses.

Perrault syndrome (PRLTS) is a rare autosomal recessive disorder which is associated with pathogenic variants in HSD17B4, HARS2, CLPP, LARS2, GGPS1, RMND1, TWNK, ERAL1, and PRORP genes. The disease is characterized by sensorineural hearing loss, sometimes with neurological signs, including progressive sensory and motor peripheral neuropathy, cerebellar ataxia, mild mental retardation, and ovarian dysgenesis in females. In this article, we report a case of a child diagnosed with spastic diplegic cerebral palsy. Determination of the segregation status of the parents of a proband with a rare compound heterozygote in the gene HSD17B4 will help the genetic counselling for the prognosis of Perrault syndrome in the family.

Background. Hyperhemolysis syndrome (HS) is a severe hemolytic transfusion reaction that can cause hemoglobin and hematocrit levels to drop below pretransfusion levels, leading to severe anemia. HS most commonly occurs in patients with a pre-existing hemoglobinopathy such as sickle cell disease (SCD) or beta-thalassemia. Methods. We report a case of HS, occurring in the absence of hemoglobinopathy, making the diagnosis challenging. The patient reported was also affected by a CIC-rearranged sarcoma. As part of the workup, the patient received a bone marrow biopsy for suspected hemophagocytic lymphohistiocytosis. Results. This provided a rare biopsy specimen to correlate reticulocytopenia with marked erythroid hyperplasia in the marrow, supporting the hypothesis of reticulocyte destruction as a contributing cause of anemia in these patients. This patient had demonstrable alloantibodies to the Jk(a) and P1 antigens as potential triggers for HS. Conclusions. It is vital that a diagnosis of HS be correctly made in these patients with severe anemia, as blood transfusions generally lead to worsening of their conditions.

Pancreatic gastrointestinal stromal tumors (PGISTs) are exceptionally rare, accounting for <5% of extra-gastrointestinal stromal tumors (EGISTs) and <1% of malignant pancreatic neoplasms. We present a unique case of concurrent double primary malignancies in a 46-year-old female with a history of recurrent myoepithelial carcinoma of the parotid gland, managed through surgical resection and adjuvant therapy. She presented with an enlarging abdominal mass, initially suggestive of pancreatic metastasis. Immunohistochemical analysis revealed positive staining for smooth-muscle actin (SMA) and CD34 in both parotid and pancreatic tissues. Importantly, CD117 expression was confined to the pancreatic tissue, confirming the diagnosis of PGIST rather than metastasis. Subsequently, a splenic-sparing distal pancreatectomy was performed, followed by immediate imatinib therapy. This case underscores the potential for the coexistence of rare primary malignancies with unique histopathological characteristics and organ involvement. When encountering a newly developed lesion in a distant organ, surgeons must consider the possibility of metastasis to guide therapeutic decision-making. Early diagnosis and appropriate intervention are paramount, particularly in the case of PGIST, given its infrequent presentation and clinical complexities.