Bilateral sensorineural deafness, partial agenesis of the corpus callosum, and arachnoid cysts in two sisters

Abstract

We describe two sisters (ages 10 and 3 years, respectively) with a normal development and a combination of congenital sensorineural hearing loss, partial agenesis of the corpus callosum, arachnoid cyst, and hydrocephalus. Neither girl has distinctive physical anomalies. In the oldest girl, there was a hearing loss of 80 dB bilaterally, and the most severe loss on audiogram was seen at 2,000-4,000 Hz. In the youngest girl, there was a hearing loss of 100 dB bilaterally. Above 2,000 Hz no neural reactions were seen. Cerebral magnetic resonance imaging in one girl and computed tomography in the other showed a partial agenesis of the corpus callosum and a cyst in the pineal region, causing an aqueduct stenosis by compression and consequent hydrocephalus. The parents have normal hearing, and brain magnetic resonance imaging showed no abnormalities. They are nonconsanguineous but from the same small village. This is the first report of a combination of congenital sensorineural hearing loss, partial agenesis of the corpus callosum, and an arachnoid cyst. The pattern of inheritance is probably autosomal recessive.

Suprasellar Arachnoidal Cyst as a Cause of Precocious Puberty - Report of Three Patients and Literature Overview

“…It has been postulated that elevated intracranial pressure or direct compression of the hypothalamus exerted by the SAC might play a role, and non-physiological variations in intracranial pressure, compressive forces, ischemia, and impairment of neurotransmitter feedback loops have all been proposed as triggering factors 4 ' 8 ' 24 ' 25 . Patient 1 had partial agenesis of the corpus callosum, similar to that reported in patients with SAC with concomitant holoprosenencephaly 27 ' 28 and in two female siblings with SAC simultaneously showing sensorineural hearing loss 29 . Craniopharyngioma, the most common suprasellar tumor in children, is an extremely rare cause of IPP 10 ' 26 .…”

Colpocephaly in Chudley-McCullough Syndrome

“…There has been debate in the literature about the terminology and the exact cause of the widened ventricles in Chudley-McCullough syndrome. Previously, the enlarged lateral ventricles were coined hydrocephalus several times, and it was thought to be caused by obstruction of the aqueduct [7] or the foramen of Monroe [1]. The available papers on the subject do not clearly describe whether there was a true hydrocephalus with a raised intracranial pressure.…”

“…Chudley-McCullough syndrome, first described in 1997 [1], is a very rare autosomal recessive disorder characterized by partial corpus callosum agenesis, colpocephaly with a right-sided tendency and bilateral severe to profound sensorineural hearing loss [1][2][3][4][5][6][7][8][9][10][11][12][13]. Other abnormalities include cortical dysplasia, frontal polymicrogyria, cerebellar dysgenesia, gray matter heterotopy, arachnoid cysts and sometimes mental retardation [8,9].…”

Inner ear dysplasia with agenesis of the corpus callosum

“…Agenesis of the corpus callosum has been associated with sensorineural hearing loss [5,6]. In this report, we describe a patient with agenesis of the corpus callosum, asymmetric bilateral sensorineural hearing loss, motor delays and amblyopia Summary In this case report we describe a patient with agenesis of the corpus callosum and asymmetric bilateral sensorineural hearing loss, who was found to have a bilateral inner ear dysplasia.…”