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Encephalocraniocutaneous Lipomatosis Without Ocular Malformations.

Jelena Radić Nišević1, Igor Prpić1, Ronald Antulov2

  • 1Department of Pediatrics, University Hospital Center, Rijeka, Croatia.

Pediatric Neurology
|May 2, 2016
PubMed
Summary

Encephalocraniocutaneous lipomatosis, a rare neurocutaneous syndrome, typically involves ocular and CNS abnormalities. This case highlights variability, presenting without ocular issues, suggesting a complex etiology.

Keywords:
diagnostic criteriadifferential diagnosisencephalocraniocutaneous lipomatosisneurocutaneous syndrome

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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Encephalocraniocutaneous lipomatosis is a rare congenital neurocutaneous syndrome.
  • Characterized by scalp lesions (nevus psiloliparus), ocular, and CNS anomalies.
  • Ocular abnormalities are considered the most consistent feature per Moog et al. (2009).

Observation:

  • A case report of an 18-year-old female patient is presented.
  • The patient exhibited central nervous system manifestations and significant skin alterations, including nevus psiloliparus.
  • Notably, the patient lacked any ocular involvement.

Findings:

  • The patient's presentation challenges the established diagnostic criteria for Encephalocraniocutaneous lipomatosis.
  • Absence of ocular malformations in a patient with other key features indicates phenotypic variability.
  • Suggests that ocular involvement may not be as consistently present as previously thought.

Implications:

  • This case underscores the potential for broader clinical variability in Encephalocraniocutaneous lipomatosis.
  • Suggests a more complex genetic or embryonic etiology underlying the syndrome.
  • Highlights the need for revised diagnostic considerations and further research into the syndrome's pathogenesis.