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"Ocular moyamoya" syndrome in a patient with features of microcephalic osteodysplastic primordial dwarfism type II

Genie M Bang1, Salman Kirmani, Alice Patton

  • 1Department of Ophthalmology, Mayo Clinic, Rochester, MN 55905, USA.

Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|January 23, 2013
PubMed

Insights

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a rare genetic disorder. This case highlights MOPD II with unique moyamoya disease affecting both brain and eye vasculature.

Area of Science:

  • Genetics
  • Pediatrics
  • Neurology

Background:

  • Primordial dwarfism encompasses genetic disorders causing severe growth impairment from fetal development.
  • Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is an autosomal-recessive condition with distinct skeletal, dental, and facial features.
  • MOPD II patients face significant risks of stroke due to progressive cerebral vascular anomalies, often presenting as moyamoya disease.

Observation:

  • A case study of a young male exhibiting clinical characteristics consistent with MOPD II.
  • The patient presented with unilateral moyamoya cerebrovascular changes.
  • Ocular examination revealed correlative moyamoya collateral vessels within the iris of the affected eye.

Findings:

  • The case demonstrates an unusual manifestation of moyamoya disease in MOPD II, extending beyond the cerebral vasculature to the eye.
  • This presentation suggests a potential systemic vascular involvement in MOPD II.
  • The co-occurrence of MOPD II and ocular moyamoya collaterals provides new insights into the vascular pathology of this condition.

Implications:

  • This finding expands the understanding of vascular complications in MOPD II.
  • It suggests the need for comprehensive vascular screening, including ocular assessment, in patients with MOPD II.
  • Further research into the shared mechanisms underlying cerebral and ocular moyamoya disease in MOPD II is warranted.

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