Introduction: Oculocerebrocutaneous syndrome (Delleman Oorthuys syndrome) (OMIM 164180) is a rare syndrome affecting eyes, skin, and central nervous system, and it is usually associated with microphthalmia. Case Description: A 4-day old baby boy was referred to our hospital for the evaluation of buphthalmos in the left eye. His clinical evaluation was remarkable for oculocerebrocutaneous syndrome with congenital glaucoma in the left eye and microphthalmos in the right eye. Conclusion: Our report represents the first case of oculocerebrocutaneous syndrome associated with unilateral congenital glaucoma so far in the literature.
Although several ophthalmic manifestations of sickle cell disease (SCD) are common, orbital bone infarction is rare. Orbital bones have less bone marrow creating an unlikely place to develop infarction. However, having a patient with SCD presenting with periorbital swelling should warrant imaging to rule out bone infarction. We present a case of a child with sickle beta-thalassaemia who was misdiagnosed with preseptal cellulitis in the right eye. Later upon review of the subtle signs of bone infarction in imaging, she was discovered to have orbital bone infarction.
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