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Case Reports
. 2014 Apr;20(2):192-4.
doi: 10.4103/0971-6866.142902.

Constitutional mismatch repair deficiency syndrome: Do we know it?

Affiliations
Case Reports

Constitutional mismatch repair deficiency syndrome: Do we know it?

C Ramachandra et al. Indian J Hum Genet. 2014 Apr.

Abstract

Constitutional mismatch repair deficiency syndrome is a rare autosomal recessive syndrome caused by homozygous mutations in mismatch repair genes. This is characterized by the childhood onset of brain tumors, colorectal cancers, cutaneous manifestations of neurofibromatosis-1 like café au lait spots, hematological malignancies, and occasionally other rare malignancies. Here, we would like to present a family in which the sibling had glioblastoma, and the present case had acute lymphoblastic lymphoma and colorectal cancer. We would like to present this case because of its rarity and would add to literature.

Keywords: Constitutional mismatch repair deficiency; Lynch syndrome; hereditary nonpolyposis colorectal cancer; mismatch repair genes.

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Conflict of interest statement

Conflict of Interest: None declared.

Figures

Figure 1
Figure 1
Magnetic resonance imaging images of dorsolumbar spine (axial and sagittal section) shows destruction of vertebrae L1, L2, and L3 with thecal compression (a-c); contrast-enhanced computer tomography scan showing osteolytic lesion involving the lumbar vertebra with cord compression (d), irregular calcification involving the left psoas muscle (arrow) (e)
Figure 2
Figure 2
Image showing café au lait spots over the left thigh and back with a scar over the spine showing previous history of surgery (a and b); image of the total proctocolectomy specimen with growth seen at the recto-sigmoid and transverse colon with <100 polyps (c); distal loop ileogram showing the J-pouch ileo-anal anastomosis (d)

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