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Minerva Pediatrica 2013 February;65(1):97-101

Copyright © 2013 EDIZIONI MINERVA MEDICA

language: English

An unusual case of neonatal cholestasis

Fundarò C. 1, Filoni S. 1, Giorgio V. 1, Calabrese V. 1, Monaco S. 1, Onesimo R. 1, Fantacci C. 1, Molle F. 2, Calandrelli R. 3

1 Pediatric Department, Sacro Cuore Catholic University, Gemelli Hospital, Rome, Italy; 2 Ophtalmology Department Sacro Cuore Catholic University, Gemelli Hospital, Rome, Italy; 3 Radioimaging Department, Sacro Cuore Catholic University, Gemelli Hospital, Rome, Italy


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Septo-optic dysplasia (SOD), otherwise called De Morsier syndrome, is a developmental anomaly of mid-line brain structures and includes optic nerve hypoplasia, absence of the septum pellucidum and hypothalamo-pituitary abnormalities). In literature an association between optic nerve hypoplasia and neonatal cholestasis is described. We report the case of a female infant with persistent cholestasis, low weight gain and onset of nystagmus that appeared at one month and a half of life. Ophthalmology evaluation showed left optic nerve hypoplasia. MRI scan of the brain demonstrated a thin left optic nerve, an ectoptic posterior pituitary gland, no visible infundibulum and lack of septum pellucidum. Endocrinological investigation showed GH and ACTH deficiency. We discuss about diagnosis and pathogenesis of De Morsier syndrome with a brief review of the literature.

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