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

Abstract

Background: 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. Cerebral abnormalities have been rarely associated with this syndrome. The aim of this paper is report the rare occurrence of cerebral abnormalities in an Iraqi girl with Noonan syndrome. Methods: A ten month girl with dysmorphic features, growth retardation and psychomotor retardation was studied. 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 also had widely space nipples, nuchal folding and a low posterior hairline. CT-scan showed ventriculopathy with evidence of brain atrophy. Conclusion: This paper reported a very rare association of Noonan syndrome with CT-scan evidence of ventriculopathy and brain atrophy in an Iraqi girl.