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Related Experiment Videos

Peter Plus Syndrome: A Neurosurgeon's Perspective.

Deepak Khatri1, Jaskaran S Gosal1, Kuntal K Das1

  • 1Department of Neurosurgery, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, Uttar Pradesh, India.

Journal of Pediatric Neurosciences
|October 26, 2019
PubMed
Summary
This summary is machine-generated.

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Peter Plus Syndrome (PPS) is a rare genetic disorder affecting protein glycosylation. Neurosurgeons must be aware of potential neurological symptoms and emergencies in affected infants.

Area of Science:

  • Genetics
  • Biochemistry
  • Neurology

Background:

  • Peter Plus Syndrome (PPS) is a rare autosomal recessive disorder.
  • It results from mutations in the beta-1,3-galactosyltransferase-like gene, impacting protein glycosylation.
  • Clinical manifestations are highly variable, affecting multiple organ systems.

Observation:

  • A 2-year-old boy with PPS presented with dysmorphic features, developmental delay, and short stature.
  • Cranial MRI revealed ventriculomegaly, cavum septum pellucidum, and vermian hypoplasia.
  • Genetic analysis confirmed a mutation in the beta-1,3-galactosyltransferase-like gene.

Findings:

  • The patient's presentation was consistent with Peter Plus Syndrome.
  • Neurological symptoms such as seizures and spastic diplegia can occur in PPS.
Keywords:
CSF diversionPeter plus syndromeneurosurgery

Related Experiment Videos

  • Raised intracranial pressure is a potential neurosurgical emergency in infants with PPS.

    • Implications:

    • Ophthalmological issues are common, but neurological aspects are often overlooked by specialists.
    • Neurosurgeons play a critical role in managing neurological complications of PPS.
    • Increased awareness among neurosurgeons is vital for timely diagnosis and intervention.