دورية أكاديمية
أعرض في EDS

Autosomal Recessive Spastic Paraplegia and Psychomotor Retardation With or Without Seizures: A Case Report From Saudi Arabia.

التفاصيل البيبلوغرافية
العنوان: Autosomal Recessive Spastic Paraplegia and Psychomotor Retardation With or Without Seizures: A Case Report From Saudi Arabia.
المؤلفون: Alzaidan H; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, SAU., Alluhaybi B; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, SAU., Albulayhid NA; College of Medicine, Prince Sattam Bin Abdulaziz University, Al-Kharj, SAU., Al-Jabr KH; College of Medicine, Prince Sattam Bin Abdulaziz University, Al-Kharj, SAU., Alotaibi FT; College of Medicine, Prince Sattam Bin Abdulaziz University, Al-Kharj, SAU., Alqahtani A; College of Medicine, Prince Sattam Bin Abdulaziz University, Al-Kharj, SAU.
المصدر: Cureus [Cureus] 2024 May 20; Vol. 16 (5), pp. e60642. Date of Electronic Publication: 2024 May 20 (Print Publication: 2024).
نوع المنشور: Case Reports; Journal Article
اللغة: English
بيانات الدورية: Publisher: Cureus, Inc Country of Publication: United States NLM ID: 101596737 Publication Model: eCollection Cited Medium: Print ISSN: 2168-8184 (Print) Linking ISSN: 21688184 NLM ISO Abbreviation: Cureus Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: Palo Alto, CA : Cureus, Inc.
مستخلص: Spastic paraplegia and psychomotor retardation with or without seizures (SPPRS) is a rare neurodevelopmental disorder associated with autosomal recessive mutations in the HACE1 gene. This case report presents the clinical features and genetic analysis of an 11-month-old girl and her sister with SPPRS, making it the third reported case in the Middle East and the second in Saudi Arabia. The patient exhibited hypotonia, global developmental delay, speech delay, swallowing difficulties, and recurrent respiratory infections. A homozygous pathogenic variant in the HACE1 gene (p.R664*) was identified through genetic analysis, confirming the diagnosis of SPPRS. This case report emphasizes the importance of considering variations in clinical presentation, especially in rare disorders where only a few cases are reported. Further research and case studies are needed to better understand the complete phenotypic spectrum of SPPRS and its complications.
Competing Interests: The authors have declared that no competing interests exist.
(Copyright © 2024, Alzaidan et al.)
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فهرسة مساهمة: Keywords: genetic mutation; hace1; neurodevelopmental syndrome; seizure; spastic paraplegia
تواريخ الأحداث: Date Created: 20240620 Latest Revision: 20240621
رمز التحديث: 20240621
مُعرف محوري في PubMed: PMC11185932
DOI: 10.7759/cureus.60642
PMID: 38899231
قاعدة البيانات: MEDLINE
الوصف
تدمد:2168-8184
DOI:10.7759/cureus.60642