Delleman syndrome: A case report from West Africa - features and the challenges of management

Niger Postgrad Med J. 2018 Jul-Sep;25(3):191-194. doi: 10.4103/npmj.npmj_75_18.

Abstract

Delleman syndrome is a rare congenital disorder. We report an 8-month old female with a history of a fleshy mass covering the left eye since birth. Examination revealed poor vision in the left eye, an upper lid coloboma and an epibulbar dermoid with a large area of alopecia and scalp hypoplasia involving the left frontoparietal region. Transfontanelle ultrasound scan did not reveal any intracranial cyst. Cranial computerised tomography subsequently revealed characteristic cerebral malformations of Delleman syndrome. This report demonstrates clinical and computed tomographic features of a case of Delleman syndrome with emphasis on the usefulness of transfontanelle ultrasonography in assessing for life-threatening intracerebral cysts or hydrocephalus, particularly in resource-limited settings, where neuroimaging is not readily available or affordable.

Keywords: Delleman; West Africa; oculocerebrocutaneous syndrome.

Publication types

  • Case Reports

MeSH terms

  • Central Nervous System Cysts / congenital
  • Central Nervous System Cysts / diagnostic imaging*
  • Eye Abnormalities / complications
  • Eye Abnormalities / diagnostic imaging*
  • Eyelids / abnormalities
  • Eyelids / diagnostic imaging*
  • Female
  • Fingers / abnormalities*
  • Fingers / diagnostic imaging
  • Humans
  • Infant
  • Nigeria
  • Orbital Diseases / diagnosis
  • Skin Abnormalities / complications
  • Skin Abnormalities / diagnostic imaging*
  • Tomography, X-Ray Computed

Supplementary concepts

  • Oculocerebrocutaneous syndrome