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

Ata Siddiqui; Alessandra D'Amico; Giovanna Stefania Colafati; Domenico Cicala; Giacomo Talenti; Kaukab Rajput; Lorenzo Pinelli; Felice D'Arco

doi:10.1007/s00234-019-02230-z

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

Ata Siddiqui, Alessandra D'Amico, Giovanna Stefania Colafati, Domenico Cicala, Giacomo Talenti, Kaukab Rajput, Lorenzo Pinelli, Felice D'Arco

Ospedale Pediatrico Bambino Gesu

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Journal	Neuroradiology
DOIs	https://doi.org/10.1007/s00234-019-02230-z
Publication status	E-pub ahead of print - Jun 8 2019

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title = "Hypothalamic malformations in patients with X-linked deafness and incomplete partition type 3",

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.",

author = "Ata Siddiqui and Alessandra D'Amico and Colafati, {Giovanna Stefania} and Domenico Cicala and Giacomo Talenti and Kaukab Rajput and Lorenzo Pinelli and Felice D'Arco",

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doi = "10.1007/s00234-019-02230-z",

language = "English",

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T1 - Hypothalamic malformations in patients with X-linked deafness and incomplete partition type 3

AU - Siddiqui, Ata

AU - D'Amico, Alessandra

AU - Colafati, Giovanna Stefania

AU - Cicala, Domenico

AU - Talenti, Giacomo

AU - Rajput, Kaukab

AU - Pinelli, Lorenzo

AU - D'Arco, Felice

PY - 2019/6/8

Y1 - 2019/6/8

N2 - 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.

AB - 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.

U2 - 10.1007/s00234-019-02230-z

DO - 10.1007/s00234-019-02230-z

M3 - Article

C2 - 31177298

SN - 0028-3940

JO - Neuroradiology

JF - Neuroradiology

ER -

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

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