Oral Medicine and Special Care Dentistry Faculty of Dentistry, Centre for Oral Diseases Studies (CODS), Al-Ahliyya Amman University, Amman, Jordan.
School of Dentistry, The University of Jordan, Amman, Jordan.
BMC Oral Health. 2024 Mar 21;24(1):362. doi: 10.1186/s12903-024-04135-7.
The literature about oral manifestations and dental management in maple syrup urine disease (MSUD) is sparse. The aim of this report is to present a new case of MSUD with special emphasis on oral findings and to review the relevant literature.
A case report of a 4-year-old boy with MSUD was described according to the CARE guidelines for describing case reports. Scoping review of relevant literature was performed, according to the PRISMA-ScR guidelines, by searching PubMed, Medline, Embase, and the grey literature for articles describing dental management and/or oral manifestations in MSUD.
The initial search identified 219 articles, but only 4 met the inclusion criteria. Rampant caries and plaque induced gingivitis were the main oro-dental findings in MSUD. Other oral findings included enamel hypoplasia, skeletal abnormalities, and abnormal oral behaviors. Disease-related factors appeared to play a major role in the development of the observed oral phenotype.
Oral health in MSUD seems to be influenced by the reliance on semi-synthetic diet and associated neurocognitive complications. Tailored oral health promotional interventions should be included in the multidisciplinary management of patients with MSUD.
枫糖尿症（MSUD）的口腔表现和牙科管理的相关文献较为匮乏。本报告的目的在于报告一例 MSUD 新病例，重点关注口腔表现，并对相关文献进行综述。
根据 CARE 指南对病例报告的描述，报告了一例 4 岁男孩 MSUD 病例。根据 PRISMA-ScR 指南，通过检索 PubMed、Medline、Embase 和灰色文献，查找描述 MSUD 中牙科管理和/或口腔表现的文章，进行了范围综述。
最初的搜索确定了 219 篇文章，但只有 4 篇符合纳入标准。猖獗性龋齿和菌斑诱导的牙龈炎是 MSUD 的主要口腔表现。其他口腔表现包括釉质发育不全、骨骼异常和异常口腔行为。疾病相关因素似乎在观察到的口腔表型发展中起主要作用。
MSUD 患者的口腔健康似乎受到对部分合成饮食的依赖和相关神经认知并发症的影响。在 MSUD 患者的多学科管理中，应纳入有针对性的口腔健康促进干预措施。
