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Case Reports
. 2024 May 20;16(5):e60642.
doi: 10.7759/cureus.60642. eCollection 2024 May.

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

Hamd Alzaidan  1 , Bashaer Alluhaybi  1 , Naif A Albulayhid  2 , Khalid H Al-Jabr  2 , Faihan T Alotaibi  2 , Assem Alqahtani  2
Affiliations
Case Reports

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

Hamd Alzaidan et al. Cureus. .

Abstract

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.

Keywords: genetic mutation; hace1; neurodevelopmental syndrome; seizure; spastic paraplegia.

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Conflict of interest statement

The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. Simplified pedigree of the family with the affected individuals shaded
See this image and copyright information in PMC

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