Congenital hydrocephalus and ligneous conjunctivitis in two children with severe type I plasminogen deficiency: A case report and literature review.

Type I plasminogen (PLG I) deficiency is a genetic disorder inherited in an autosomal recessive mode and carries high mortality and morbidity. This case report discusses two babies, aged 2 and 3 months, who were diagnosed with ligneous conjunctivitis and congenital hydrocephalus. They had progressive macrocephaly, which led to the insertion of a ventriculoperitoneal shunt. However, there was no significant improvement. During the course of the disease, they underwent genetic testing and were diagnosed with PLG I deficiency. One of the babies underwent ventriculocholecystic shunt insertion as part of palliative care and management, since this disease has poor absorption in the peritoneal cavity. Unfortunately, there was no improvement observed, and he died at 18 months. The other baby received intravenous plasma (10 ml/kg) three times a week, plus using several eye drops daily, with moderate improvement. Promising results are expected with the approved plasminogen, human-tvmh, by the Food and Drug Administration. However, access to the newly approved drug in developing countries is challenging, often hindered by cost or supply issues, necessitating the use of alternative treatments.

Primary extraskeletal intradural Ewing sarcoma with acute hemorrhage: a case report and review of the literature.

BACKGROUND: Spinal cord tumors present a challenge in diagnosis and treatment due to their varied histopathological characteristics. While Ewing sarcoma is a rare malignant tumor typically originating from skeletal bone, cases of primary intradural extraskeletal Ewing sarcoma are exceptionally rare. The similarity of its presentation to other spinal tumors further complicates its identification and management. CASE PRESENTATION: We report a case of a 58-year-old Palestinian male with intradural extraskeletal lumbar Ewing sarcoma. The patient initially presented with lower back pain and bilateral S1 radiculopathy, with more severe symptoms on the left side. Magnetic resonance imaging revealed a 7 cm oval-shaped mass with homogeneous contrast enhancement, obstructing the spinal canal from L3/L4 to L5/S1 levels. Initially, a myxopapillary ependymoma was suspected, but the patient's sensory and motor functions suddenly deteriorated during hospitalization. Repeat magnetic resonance imaging indicated heterogeneous contrast enhancement, indicating acute intratumoral hemorrhage. Consequently, the patient underwent emergent L3-L5 laminotomy, with successful gross total resection of the tumor. Histopathological and immunohistochemical analyses confirmed the diagnosis of intradural extraskeletal Ewing sarcoma. Adjuvant therapy was administered to minimize the risk of local recurrence or distant metastasis. A systematic review of relevant literature, along with retrospective analysis of medical records, operative reports, radiological studies, and histopathological findings of similar cases, was also conducted. CONCLUSIONS: Intradural extraskeletal Ewing sarcoma is an infrequently encountered condition in adult patients, emphasizing the importance of considering it in the differential diagnosis of spinal tumors. Surgeons must possess a comprehensive understanding of this rare entity to ensure accurate staging and optimal management, particularly in the early stages when prompt intervention may improve prognosis.

Large pineal parenchymal tumor of intermediate differentiation causing compression with resultant obstructive hydrocephalus: a case report.

The epithalamus region contains the tiny, functionally endocrine pineal gland, which has the shape of a pinecone. Less than 1% of adult primary intracranial malignancies are pineal parenchymal tumors, which are incredibly uncommon brain tumors. A rare variety of pineal parenchymal tumors are those with intermediate differentiation. These tumors, whose namesake refers to a malignant pineal parenchymal tumor, are intermediate between pineoblastomas and pineocytomas (a benign pineal parenchymal tumor). Case Presentation: A female patient, age 13, who had been experiencing terrible headaches on and off for a month, went to the emergency room. Along with the headache, she experienced nausea, vomiting, dizziness, and blurred eyesight. A nonenhanced computed tomography scan was used for the initial brain neuroimaging, which showed a hypodense mass posterior to the midbrain and superior to the cerebellum. A heterogeneous bulk was visible on MRI. Clinical Outcome: The headache, vertigo, visual disturbance, nausea, and vomiting have all improved, according to the patient. Both postoperative MRIs with and without contrast revealed the resolution of the obstructive hydrocephalus and the absence of any residual enhancing mass. The patient was followed up for 2 months without any complications or adverse events. Conclusion: One should carefully investigate a headache as the early symptom of many illnesses and rule out any other potential causes. This would therefore enable us to create a management structure for such a very unusual malignancy.