Abstract
Introduction
KIF1A, a gene that encodes a neuron-specific motor protein, plays important roles in cargo
transport along neurites. Variants in KIF1A have been described in three different disorders, and neurodegeneration and spasticity
with or without cerebellar atrophy or cortical visual impairment syndrome (NESCAVS)
is the severest phenotype.
Case report
A 3-year-old girl was born at term with a birth weight of 2590 g. At five months of
age, she visited our hospital due to developmental delay. An EEG showed multiple epileptic
discharge, and a nerve conduction study showed severe axonopathy of both motor and
sensory nerves. We performed exome sequencing and identified a de novo heterozygous missense variant in KIF1A (NM_001244008.1: c. 757G > A, p.E253K). At six months of age, she developed acute
encephalopathy, multiple organ failure and disseminated intravascular coagulation,
necessitating intensive care. Her brain CT showed severe brain edema, followed by
profound brain atrophy. We diagnosed hemorrhagic shock and encephalopathy syndrome
(HSES) according to the clinico-radiological features. Currently, she is bed-ridden,
and requires gastrostomy because of dysphagia.
Conclusion
The clinical course of our case confirmed that p.E253K is associated with severe neurological
features. Severe KIF1A deficiency could cause thermoregulatory dysfunction and may increase the risk of
acute encephalopathy including HSES.
Keywords
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Article info
Publication history
Published online: December 13, 2021
Accepted:
November 19,
2021
Received in revised form:
November 16,
2021
Received:
April 8,
2021
Identification
Copyright
© 2021 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
