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Identification of a novel MAG gene mutation with 22q11.21 microduplication linked to hereditary spastic paraplegia.

BMJ case reports - 16 Dec 2024

Kavishwar Madhura, Bisen Pratima, Baheti Sumeet, Wade Poonam

Abstract excerpt

Diagnosing hereditary spastic paraplegia (HSP) in paediatric patients can be challenging, especially when there is no positive family history. Children are often initially misdiagnosed with cerebral palsy due to the gradual progression of the disease and non-specific neuroimaging findings, despite the absence of perinatal insult. This misdiagnosis can prevent timely prenatal diagnosis, limiting the ability to...

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PMID: 39689926
DOI: 10.1136/bcr-2024-260342

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