C41 CAROTID OCCLUSION AT THE CAROTID SIPHON LEVEL IN A CHILD WITH PROGERIA

Abstract

Abstract Introduction Hutchinson–Gilford Progeria syndrome (HGPS) is a rare disease affecting 1 in 4–8 million children, caused by a sporadic mutation of the LMNA gene and expression of a mutant product called progerin. Patients develop a progressive and severe premature aging disease characterized by failure to thrive, alopecia, bone and joint abnormalities, loss of subcutaneous fat, and severe atherosclerosis. Patients live an average of 14.6 years, and most die in their early teens from myocardial infarction or stroke due to rapidly progressive atherosclerosis. Clinical case The 8–year–old patient, affected by progeria, arrived for relapsing strokes. The clinical history began with a picture of severe acro–mandibular hypoplasia with obstruction of the upper airways, treated with early tracheostomy and subsequent percutaneous gastrostomy. Further progeroid phenotypic characters developed were: poor body growth, sui generis facies with prominent eyes and beaked nose, alopecia, micrognathia, discolored, thin, hypoelastic skin; poorly represented panniculus adiposus; scoliosis. Genetic tests have highlighted two pathogenic heterozygous mutations, of the LMNA gene (C.168 C>A) probably deriving from the mother (mosaicism), and the other of the ZMPSTF24 gene, (c.846 C>T) paternally inherited. The major complications are secondary to severe atherosclerosis of the cerebral district, resulting in repeated strokes. Brain MRA (Fig.1 and 2) documented the absence of signal at the level of the right carotid siphon and of the whole intracranial tract of the right carotid artery and poor signal in correspondence with the intracranial tract of the left carotid artery distal to the carotid siphon in a picture of diffuse atherosclerosis. The marked predisposition and the recurrence of ischemic episodes required the patient to have thrombophilic screening, positive for a heterozygous mutation for the prothrombin gene (G20210A), known for thrombophilic predisposition. Conclusions Progeria is a rare syndrome that requires an adequate multidisciplinary approach and clinical care management aimed at improving the quality of life of our patients.