诊断和管理伯利兹-默兹巴赫病：一个儿科的斗争

IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL

Clinical Case Reports Pub Date : 2025-10-04 DOI:10.1002/ccr3.71153

Sajjad Ahmed Khan, Naphibanroi Lamar, Ishan Shrestha, Sagar Bhagat

引用次数: 0

摘要

及时诊断罕见的遗传疾病，如伯利兹-默兹巴赫病，可以及时护理。协调的多学科支持和积极预防，特别是吸入性肺炎等问题，对于提高生活质量和结果至关重要，即使该疾病继续发展。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Diagnosing and Managing Pelizaeus-Merzbacher Disease: A Pediatric Struggle

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Diagnosing and Managing Pelizaeus-Merzbacher Disease: A Pediatric Struggle

Prompt diagnosis of rare genetic conditions like Pelizaeus-Merzbacher Disease enables timely care. Coordinated, multidisciplinary support and proactive prevention, particularly of issues like aspiration pneumonia, are vital to enhancing quality of life and outcomes, even as the disease continues to progress.

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来源期刊

Clinical Case Reports MEDICINE, GENERAL & INTERNAL-

自引率

14.30%

发文量

1268

审稿时长

13 weeks

期刊介绍： Clinical Case Reports is different from other case report journals. Our aim is to directly improve global health and increase clinical understanding using case reports to convey important best practice information. We welcome case reports from all areas of Medicine, Nursing, Dentistry, and Veterinary Science and may include: -Any clinical case or procedure which illustrates an important best practice teaching message -Any clinical case or procedure which illustrates the appropriate use of an important clinical guideline or systematic review. As well as: -The management of novel or very uncommon diseases -A common disease presenting in an uncommon way -An uncommon disease masquerading as something more common -Cases which expand understanding of disease pathogenesis -Cases where the teaching point is based on an error -Cases which allow us to re-think established medical lore -Unreported adverse effects of interventions (drug, procedural, or other).