Morning Glory fundus anomaly, coloboma of the optic nerve, porencephaly and hydronephrosis in a newborn infant: MCPH entity.

The association of Morning Glory anomaly with intracranial pathology has been rarely described and seems to be a distinct one. A 41-week full-term infant presenting with Morning Glory anomaly and multiple major and minor anomalies with a normal karyotype is described. Right Parieto-occipital porencephaly with mild hydrocephaly of lateral ventricle, right brain atrophy and enlarged thalami were observed by repeated ultrasound, computed tomography and magnetic resonance imaging examinations. Fundoscopy, visual evoked response and electroretinography revealed bilateral colobomas of the optic nerve, bilateral Morning Glory optic disc anomaly, severe exotropia and medial recti paralysis. Non-obstructive, non-refluxing left hydronephrosis and left hydroureter were diagnosed by renal investigations. To the best of our knowledge the association of the described malformations has never been previously reported. The clinical and nosological significance of this new entity is discussed.