Case report: Novel mutations in the SPG11 gene in a case of autosomal recessive hereditary spastic paraplegia with a thin corpus callosum.

A 24-year-old man presented with insidious onset progressive gait disturbance and was finally diagnosed with autosomal recessive hereditary spastic paraplegia. Two novel mutations, including a frameshift mutation (c.5687_5691del) and a non-sense mutation (c.751C>T), were identified in the SPG11 gene of the patient through whole genome sequencing. The frameshift mutation of c.5687_5691del leads to a change in amino acid synthesis beginning with amino acid No. 1896 arginine and terminating at the 8th amino acid after the change (p. Arg1896MetfsTer8). The non-sense mutation (c.751C>T) causes the conversion of codon 251st encoding the amino acid Gln into a stop codon (p. Gln251Ter), resulting in premature termination of peptide synthesis. Although confirmation of compound-heterozygosity could not be performed, our findings enriched the phenotypic spectrum of SPG11 mutations related to hereditary spastic paraplegia.

Recurrent metastatic retroperitoneal dedifferentiated liposarcoma: a case report and literature review.

BACKGROUND: Retroperitoneal liposarcoma (RPLPS), a rare tumor, is often treated using surgical procedures as the first choice for treatment. However, there is no consensus on the scope of surgical resection. In addition, the treatment outcomes of conventional radiotherapy and chemotherapy have not been satisfactory, particularly for specific types of LPS, such as dedifferentiated LPS. In this case study, we present a brief review of other cases of RPLPS, highlighting the selection of surgical scope for RPLPS and related adjuvant treatment for advanced RPLPS. CASE PRESENTATION: A case study is reported regarding an extremely rare recurrent and metastatic retroperitoneal dedifferentiated LPS. The primary RPLPS tumor, with a diameter of 20 cm and a weight of 2.5 kg, occupied the whole left abdomen and adhered to the left kidney. A surgical tumor resection combined with a left nephrectomy is performed. During the 6th -month postoperative follow-up examination, we observed the local recurrence of the tumor in the operation area, in addition to multiple metastatic tumors in both lungs. Further, the prescribed 3-month targeted treatment with anlotinib significantly reduced the size of the metastatic pulmonary tumors. However, the recurrent retroperitoneal tumors showed no significant change in size. Eventually, we observed no substantial evidence of tumor progression, with the patient's condition under control. CONCLUSION: The case demonstrated that the postoperative recurrence of widespread RPLPS required R0 resection to cure the disease, considering targeted therapy for advanced RPLPS control.