J Inherit Metab Dis (2016) 39:465–466
DOI 10.1007/s10545-016-9929-x

IMAGES IN METABOLIC MEDICINE

Acute cortical deafness in a child with MELAS syndrome
Marie P. Pittet 1 & Roni B. Idan 2 & Ilse Kern 3 & Nils Guinand 4 & Hélène Cao Van 4 &
Seema Toso 5 & Joël Fluss 1

Received: 3 March 2016 / Accepted: 15 March 2016 / Published online: 7 April 2016
# The Author(s) 2016. This article is published with open access at Springerlink.com

Abstract Auditory impairment in mitochondrial disorders are
usually due to peripheral sensorineural dysfunction. Central
deafness is only rarely reported. We report here an 11-year-old
boy with MELAS syndrome who presented with subacute deafness after waking up from sleep. Peripheral hearing loss was
rapidly excluded. A brain MRI documented bilateral stroke-like
lesions predominantly affecting the superior temporal lobe,
including the primary auditory cortex, confirming the central
nature of deafness. Slow recovery was observed in the following
weeks. This case serves to illustrate the numerous challenges

Communicated by: Garry Brown
* Marie P. Pittet
marie-pascale.pittet@hcuge.ch

1

Pediatric Neurology Unit, Pediatric Subspecialties Service,
Children’s Hospital, Geneva University Hospitals,
Geneva, Switzerland

2

Child and Adolescent Medicine Department, Children’s Hospital,
Geneva University Hospitals, Geneva, Switzerland

3

Pediatric Nephrology and Metabolism Unit, Pediatric Subspecialties
Service, Children’s Hospital, Geneva University Hospitals,
Geneva, Switzerland

4

Division of Otorhinolaryngology, Geneva University Hospitals,
Geneva, Switzerland

5

Pediatric Radiology Unit, Children’s Hospital, Geneva University
Hospitals, Geneva, Switzerland

6

Pediatric Radiology Unit, Geneva Children’s Hospital, Geneva
14, Switzerland

caused by MELAS and the unusual occurrence of acute cortical
deafness, that to our knowledge has not be described so far in a
child in this setting.

We report an unusual neurological complication of
MELAS syndrome in an 11-year-old boy with a genetically confirmed MELAS syndrome (m.3243A > G mitochondrial DNA mutation) for 2 years (Nissenkorn et al. 2000).
His basic symptoms were microcephaly, small height,
learning disabilities, refractory focal epilepsy, mild weakness and extreme fatigue. After an unusual nocturnal flareup of seizures, the child appeared, upon awakening, not to
respond to any auditory stimuli, and was brought to the
emergency room with a presumed subacute profound deafness. On examination, the patient was alert, although he
did not show any reactivity to loud sounds. He merely
produced meaningless sequences of words such as Bil est
où papa?^ Furthermore, the patient seemed unaware of his
hearing disturbances. No other neurological deficits were
observed. A conductive hearing loss was ruled out.
Auditory evoked potentials from the brainstem were present. A central cause of hearing loss was therefore
suspected and a brain MRI performed. This showed multiple and bilateral stroke-like lesions affecting predominantly the superior temporal lobe including both primary
auditory cortices, confirming the central nature of the subacute deafness (Fig. 1). High-dose iv L-Arginine was given in addition to his standard treatment of oral Citrulline.
Despite progressive hearing recovery within 2 weeks, the
patient did not recover fully and exhibits on follow-up,

J Inherit Metab Dis (2016) 39:465–466

of an acute cortical deafness in MELAS due to its unique
propensity to simultaneously affect both temporal lobes
with stroke-like lesions (Miceli et al. 2008).
Compliance with ethical standards The parents give their written
consent to this publication.
Study funding No targeted funding reported.
Disclosure
manuscript.

Fig. 1 Brain MRI scan 72 h after onset of symptoms. a Coronal FLAIR
image shows symmetrical high signal intensities lesions in multiple
arterial territories. b Axial T2-weighted image demonstrating high
signal cortical and subcortical lesions bilaterally in the edematous
superior temporal gyri. c Axial diffusion-weighted image (DWI)
demonstrating high signal areas in the same regions

residual language and cognitive deficits. Although hearing
impairment in mitochondrial disorders is usually related to
cochlear dysfunction, this case emphasizes the possibility

The authors report no disclosures relevant to the

Open Access This article is distributed under the terms of the Creative
Commons Attribution 4.0 International License (http://
creativecommons.org/licenses/by/4.0/), which permits unrestricted use,
distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the
Creative Commons license, and indicate if changes were made.

References
Miceli G, Conti G, Cianfoni A et al (2008) Acute auditory agnosia as the
presenting hearing disorder in MELAS. Neurol Sci 29:459–463
Nissenkorn A, Avraham Z, Dorit L et al (2000) Neurologic presentations
of mitochondrial disorders. J Child Neurol 15(1):44–48

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