Progeria and the early aging in children: a case report.
The Hutchinson-Gilford syndrome or progeria is a rare autosomal dominant syndrome characterized by premature aging and involvement of internal systems, such as the circulatory and locomotor. The diagnosis is essentially clinical and the manifestations become more evident from the first year of life. Long term outcome data from Progeria Research Foundation clinical trials have demonstrated an increase in survival in recent years. Even though new trials are ongoing, the recognition of this syndrome is essential to prevent cardiovascular and cerebrovascular complications. A patient, initially asymptomatic, who developed characteristic signs of the syndrome at the age of 6 months is reported. She was referred for evaluation only when she was two years and eleven months old. The diagnosis of Hutchinson-Gilford syndrome was suspected owing to clinical characteristics. The diagnosis was confirmed by genetic testing. A mutation c.1824C> T in exon 11 of the LMNA gene was detected. She was registered in the Progeria Research Foundation and was invited to participate in the weighing and supplementation program. She was included in the lonafarnib protocol study. This medication is a farnesyl transferase inhibitor that prevents the production of progerina and slows cardiovascular and neurological complications of the syndrome. This case highlights the importance of diagnosing progeria patients because they may be referred to the Progeria Research Foundation, which offers genetic screening and inclusion in clinical and therapeutic follow-up protocols without any costs. Progeria trials and research may also contribute to new drug developments related to prevention of aging and atherosclerosis in the near future.
School of Medicine, Federal University of Parana, Curitiba. Ercarvalho50@hotmail.com.
Vania O
VO
Carvalho
Adriane
A
Celli
Bruno Leonardo
BL
Bancke Laverde
Caroline
C
Cunico
Guilherme
G
Santos Piedade
Manuela
M
Lucas de Mello
Paulo Sergio
PS
Beirao Junior
D000375:Aging; D001827:Body Height; D001835:Body Weight; D002648:Child; D002675:Child, Preschool; D004791:Enzyme Inhibitors / Q000627:therapeutic use; D005260:Female; D006801:Humans; D007223:Infant; D034904:Lamin Type A / Q000235:genetics; D010880:Piperidines / Q000627:therapeutic use; D011371:Progeria / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D011725:Pyridines / Q000627:therapeutic use; D003986:Dibenzocycloheptenes
D004791:Enzyme Inhibitors; D034904:Lamin Type A; D010880:Piperidines; D011725:Pyridines; C494847:LMNA protein, human; C115354:lonafarnib; D003986:Dibenzocycloheptenes