Léa Bonneau , Maïlys Rupin-Mas , Magali Descamps , Marie Vincent , Bénédicte Romefort , Patrick Van Bogaert
{"title":"Hutchinson-Gilford早衰综合征患者颅内高压1例。","authors":"Léa Bonneau , Maïlys Rupin-Mas , Magali Descamps , Marie Vincent , Bénédicte Romefort , Patrick Van Bogaert","doi":"10.1016/j.arcped.2024.12.006","DOIUrl":null,"url":null,"abstract":"<div><div>Hutchinson-Gilford syndrome, also known as progeria, is a rare genetic disorder that causes premature and accelerated ageing from the neonatal period. The disease is caused by de novo mutations in the LMNA gene. Patients present with a range of symptoms, including skin, bone, joint and cardiac disorders, as well as characteristic facial dysmorphia. Intracranial hypertension is not a known symptom of this disease. To the best of our knowledge, no case of a patient with Hutchinson-Gilford syndrome presenting with intracranial hypertension without a traumatic context has been reported in the literature to date. This report presents the case of a child diagnosed with Hutchinson-Gilford syndrome who presented with intracranial hypertension at the age of three years, with no secondary cause identified. Long-term treatment with acetazolamide was required to control the intracranial hypertension. We hypothesise that the intracranial hypertension may be related to vascular abnormalities observed in Hutchinson-Gilford syndrome, which may cause a venous drainage dysfunction. To support the hypothesis of a non-random association between intracranial hypertension and Hutchinson-Gilford syndrome, further reports of similar cases in children with the syndrome are required.</div></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":"32 3","pages":"Pages 210-212"},"PeriodicalIF":1.3000,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Intracranial hypertension in a patient with Hutchinson-Gilford progeria syndrome\",\"authors\":\"Léa Bonneau , Maïlys Rupin-Mas , Magali Descamps , Marie Vincent , Bénédicte Romefort , Patrick Van Bogaert\",\"doi\":\"10.1016/j.arcped.2024.12.006\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>Hutchinson-Gilford syndrome, also known as progeria, is a rare genetic disorder that causes premature and accelerated ageing from the neonatal period. The disease is caused by de novo mutations in the LMNA gene. Patients present with a range of symptoms, including skin, bone, joint and cardiac disorders, as well as characteristic facial dysmorphia. Intracranial hypertension is not a known symptom of this disease. To the best of our knowledge, no case of a patient with Hutchinson-Gilford syndrome presenting with intracranial hypertension without a traumatic context has been reported in the literature to date. This report presents the case of a child diagnosed with Hutchinson-Gilford syndrome who presented with intracranial hypertension at the age of three years, with no secondary cause identified. Long-term treatment with acetazolamide was required to control the intracranial hypertension. We hypothesise that the intracranial hypertension may be related to vascular abnormalities observed in Hutchinson-Gilford syndrome, which may cause a venous drainage dysfunction. To support the hypothesis of a non-random association between intracranial hypertension and Hutchinson-Gilford syndrome, further reports of similar cases in children with the syndrome are required.</div></div>\",\"PeriodicalId\":55477,\"journal\":{\"name\":\"Archives De Pediatrie\",\"volume\":\"32 3\",\"pages\":\"Pages 210-212\"},\"PeriodicalIF\":1.3000,\"publicationDate\":\"2025-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Archives De Pediatrie\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0929693X25000442\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Archives De Pediatrie","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0929693X25000442","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"PEDIATRICS","Score":null,"Total":0}
Intracranial hypertension in a patient with Hutchinson-Gilford progeria syndrome
Hutchinson-Gilford syndrome, also known as progeria, is a rare genetic disorder that causes premature and accelerated ageing from the neonatal period. The disease is caused by de novo mutations in the LMNA gene. Patients present with a range of symptoms, including skin, bone, joint and cardiac disorders, as well as characteristic facial dysmorphia. Intracranial hypertension is not a known symptom of this disease. To the best of our knowledge, no case of a patient with Hutchinson-Gilford syndrome presenting with intracranial hypertension without a traumatic context has been reported in the literature to date. This report presents the case of a child diagnosed with Hutchinson-Gilford syndrome who presented with intracranial hypertension at the age of three years, with no secondary cause identified. Long-term treatment with acetazolamide was required to control the intracranial hypertension. We hypothesise that the intracranial hypertension may be related to vascular abnormalities observed in Hutchinson-Gilford syndrome, which may cause a venous drainage dysfunction. To support the hypothesis of a non-random association between intracranial hypertension and Hutchinson-Gilford syndrome, further reports of similar cases in children with the syndrome are required.
期刊介绍:
Archives de Pédiatrie publishes in English original Research papers, Review articles, Short communications, Practice guidelines, Editorials and Letters in all fields relevant to pediatrics.
Eight issues of Archives de Pédiatrie are released annually, as well as supplementary and special editions to complete these regular issues.
All manuscripts submitted to the journal are subjected to peer review by international experts, and must:
Be written in excellent English, clear and easy to understand, precise and concise;
Bring new, interesting, valid information - and improve clinical care or guide future research;
Be solely the work of the author(s) stated;
Not have been previously published elsewhere and not be under consideration by another journal;
Be in accordance with the journal''s Guide for Authors'' instructions: manuscripts that fail to comply with these rules may be returned to the authors without being reviewed.
Under no circumstances does the journal guarantee publication before the editorial board makes its final decision.
Archives de Pédiatrie is the official publication of the French Society of Pediatrics.