April 13, 2021; 96 (15 Supplement) SATURDAY, APRIL 17

A case of Urbach-Wiethe disease associated with ictal fear (4474)

Zara Togher, Aine Redmond, Emma Troy, Maitreyi Penugonda, Niall Crumlish, Yvonne
Langan, Siobhan Hutchinson

First published April 13, 2021,

Abstract
Objective: Urbach-Wiethe disease is a rare, autosomal recessive disorder
caused by a mutation of extracellular matrix protein-1 (ECM1).

Neurological complications can include basal ganglia calcification of the

anterior medial temporal lobes (which may predispose to seizures),
cognitive and neuropsychiatric abnormalities, or rarely spontaneous
intracranial haemorrhage.

We present a case of Urbach-Wiethe disease associated with Kluver-Bucy

syndrome, complicated both by intracranial haemorrhage and partial
seizures presenting as panic attacks.

Background: A 32 year old Irish man presented with sudden onset left
upper limb and lower limb weakness secondary to a spontaneous right
frontal haemorrhage. He had a background of panic disorder since his teens,
with episodic stereotyped ‘panic attacks’. His history was significant for a
hoarse voice since childhood, hyperorality, hypersexuality and hyperphagia
(BMI of 44kg/m2).

Design/Methods: N/A

Results: Computed tomography (CT) brain revealed an acute right frontal

lobe parenchymal haemorrhage, with dense hippocampal and symmetric
basal ganglia calcification, including the amygdala bilaterally.
An ambulatory electroencephalogram (EEG) without video revealed a
build-up of theta activity prior to the ‘panic attacks’. Frequency of these
events improved on commencement of an anti-epileptic medication.

The patient scored below the 10th centile in all measures in the Repeatable
Battery for the Assessment of Neuropsychological Status. Frontal
dysfunction was demonstrated overall.

He had difficulty drawing representations of, and recognising facial

expressions.

Single gene testing was positive for a loss of function mutation in ECM-1,
confirming a diagnosis of Urbach-Wiethe disease.

Conclusions: Similar to previous patients with this condition, our patient

exhibited an abnormal experience of fear. However, a unique feature
described in this case is the presence of an ictal experience of fear.