Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report.

Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare autosomal recessive genetic disorder caused by biallelic germline mutations in one of the mismatch repair genes. Carriers are at exceptionally high risk for developing, typically in early life, hematological and brain malignancies, as well as cancers observed in Lynch syndrome. We report a homozygous MLH1 missense variant (c.1918C>A p.(Pro640Thr)) in a Tunisian patient with CMMRD syndrome and a family history of early-age colorectal cancer. The proband presented initially with colonic oligopolyposis and adenosquamous carcinoma of the caecum. He later developed several malignancies, including undifferentiated carcinoma of the parotid, grade 4 IDH-mutant astrocytoma, and ampulla of Vater adenocarcinoma. The patient was older than typical for this disease and had a remarkably prolonged survival despite developing four distinct aggressive malignancies. The current report highlights the challenges in assessing the pathogenicity of the identified variant and the remarkable phenotypic diversity in CMMRD.

Epidural angiolipoma: A rare cause of spinal cord compression.

INTRODUCTION: Angiolipomas are benign, slow growing lesions, almost always located subcutaneously in the trunc or limbs. They are composed of mature lipocytes admixed with abnormal blood vessels. Spinal epidural angiolipoma are rare accounting for approximately 0.14-1.2% of all spinal axis tumors and 2-3% of epidural spinal tumors. PRESENTATION OF CASE: We report the case of a 65 years-old-woman, presenting with complete paraplegia installed since 7 months. Magnetic resonance imaging (MRI) showed an epidural dorsal fatty mass. The patient recovered immediately after surgery. The pathological examination concluded to an angiolipoma. DISCUSSION: Angiolipoma patients most commonly have long-lasting pain and then develop progressive neurological symptoms secondary to spinal cord compression. The mean duration of symptom progression at diagnosis is 1 year. MRI is the most reliable examination for the diagnosis of spinal angiolipoma. Total resection is the treatment of choice. No adjuvant treatment is indicated. Since SAL are very haemorrhagic lesions, preoperative embolization is recommended. CONCLUSION: We think that spinal cord compression caused by angiolipoma have very good functional prognosis, even if tardily diagnosed.