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2002-01-11-12 Answer to the case of the week #65 © Gonçalves

Answer to case #65

January 11-25, 2002

Luís Flávio Gonçalves, MD

Clínica Materno-Fetal,  and Universidade do Vale do Itajaí, Itajaí, Brazil

The following images were obtained in a 3rd trimester fetus. Aside from the cranial finding, some images suggested the presence of a coarctation of the aorta. Due to the baby"s position good images could not be obtained. Some anomalies were only recognized after birth. In particular the child had a large deep red/purplish cutaneous lesion on the same side as the CNS lesion below. A cataract could also have been present.




These images demonstrated a cerebellar hemihypoplasia.

The findings thus were:

  • cerebellar hemihypoplasia
  • coarctation of the aorta
  • cutaneous lesion... this is likely to be hemangioma.

This is a tricky combination to recognize. Trying the association of "cerebellar hemihypoplasia, coarctation of the aorta and  hemangioma" in OMIM, does not find any diagnosis. As often, too many keywords make the search too restrictive. In such case it is better to suppress the least significant keywords. 

Using Hemangioma and cerebellum suggest Von-Hippel-Lindau syndrome. Reading the characteristics of Von-Hippel-Lindau syndrome, we find that the angiomas are not cutaneous... 

So another search... Hemangioma and coarctation suggests Pallister-Hall Syndrome, Nevus Sebaceus of Jadassohn, Hemifacial Microsomia, none of which fits really the case...

Using "coarctation & cerebellum" gives Neurofibromatosis, Williams-Beuren Syndrome; Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects

Using "posterior fossa & hemangioma" Pallister-Hall Syndrome, PHACE Association. Reviewing the PHACE association we find a perfect match.

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