Noonan syndrome with CT-scan evidence of brain atrophy and ventriculomegaly

Aamir Mosawi

doi:10.31579/jcrr/2019/003

Abstract

Noonan syndrome with CT-scan evidence of brain atrophy and ventriculomegaly

Highlights

ResultsNoonan syndrome is a heterogeneous congenital syndrome that occur sporadically or inherited as an autosomal dominant disorder
The aim of this paper is report the rare occurrence of cerebral abnormalities in an Iraqi girl with Noonan syndrome
CT-scan showed ventriculopathy with evidence of brain atrophy

Summary

Introduction

ResultsNoonan syndrome is a heterogeneous congenital syndrome that occur sporadically or inherited as an autosomal dominant disorder. Noonan syndrome is congenital syndrome that occur sporadically or inherited as an autosomal dominant disorder, and is associated with a wide spectrum of clinical manifestations that vary greatly in range and severity including facial dysmorphism with low set ears, bulbous nose, micrognathia, and thick upper eyelids, mental retardation, nuchal folding, a low posterior hairline, high arched palate and widely space nipples. Results: The girl had a sporadic form of Noonan with predominant cerebral manifestations and without congenital heart defect She had growth and psychomotor retardation, hypotonia, craniofacial dysmorphism with low set ears, bulbous nose, thick upper eyelid, high arched palate, and micrognathia. She had widely space nipples, nuchal folding and a low posterior hairline. Conclusion: This paper reported a very rare association of Noonan syndrome with CT-scan evidence of ventriculopathy and brain atrophy in an Iraqi girl

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