Severe neurodevelopmental phenotype with multisystem involvement in VPS16-related mucopolysaccharidosis-like syndrome.
Kutlay Gür, Dilek Uludağ Alkaya, Nilay Güneş et al.
✦ AI-curated · Sources linked
Case in brief
A patient with biallelic VPS16 variants presented with profound developmental delay, early-onset epilepsy, and spasticity, alongside multisystem issues such as recurrent infections and neutropenia. Brain MRI revealed significant white-matter abnormalities, progressive atrophy of cerebral and cerebellar structures, and symmetric signal changes in the globus pallidus and substantia nigra, indicating possible iron deposition.
What made this case unusual
This case highlights the severe neurodevelopmental phenotype and multisystem involvement associated with VPS16-related mucopolysaccharidosis-like syndrome, expanding the known neurological manifestations of this condition.
Diagnostic / clinical pearl
Clinicians should consider VPS16-related disorders in patients presenting with severe developmental delays and multisystem symptoms, particularly when neurological signs are evident.
Why it matters
Understanding the full spectrum of VPS16-related syndromes can aid in early diagnosis and management of affected individuals, potentially improving outcomes.