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. 2019 Aug;61(8):949-952.
doi: 10.1007/s00234-019-02230-z. Epub 2019 Jun 8.

Hypothalamic malformations in patients with X-linked deafness and incomplete partition type 3

Ata Siddiqui  1 , Alessandra D'Amico  2 , Giovanna Stefania Colafati  3 , Domenico Cicala  4 , Giacomo Talenti  5 , Kaukab Rajput  6 , Lorenzo Pinelli  7 , Felice D'Arco  8
Affiliations

Hypothalamic malformations in patients with X-linked deafness and incomplete partition type 3

Ata Siddiqui et al. Neuroradiology. 2019 Aug.

Abstract

Patients with X-linked deafness carry mutations in the POU3F4 gene and have pathognomonic inner ear malformations characterised by symmetrical incomplete partition type 3 (absent modiolus and lamina spiralis but preserved interscalar septum in a normal-sized cochlea) and large internal auditory meatus (IAM) with an increased risk of gusher during stapes surgery. We describe a range of fairly characteristic malformations in the hypothalamus of some patients with this rare condition, ranging from subtle asymmetric appearance and thickening of the tuber cinereum to more marked hypothalamic enlargement. We discuss the role of POU3F4 in the normal development of both the inner ear and hypothalamus and the proposed pathophysiology of incomplete partition type 3.

Keywords: Gusher; Hypothalamic hamartoma; Incomplete partition; Magnetic resonance imaging; X-linked deafness.

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