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I n t e r n a t i o n a l C o n f e r e n c e o n
Neurological Disorders,
Stroke and CNS
October 22-23 , 2018
Athens , Greece
Journal of Neurology and Neuroscience
ISSN: 2171-6625
Stroke and CNS 2018
Introduction
: Automutilation is a common psychiatric behavioral disorder. However, it could be a revealing sign of a rare
neurological disease such as neuroacanthocytosis.
Case Report:
We report a case of a 39 year-old patient, without previous neurological history. She was born to consanguineous
parents. She has developed insidious oral automutilations. She was examined and followed by dermatologists and psychiatrists.
No etiology was retained. Few months’ later, she developed movement disorders. Neurological examination has confirmed
choreic movements in the head and upper limbs, tendon areflexia and cognitive impairement. Blood smear revealed the presence
of acanthocytes (9%). Biological assessment showed a high level of muscular enzymes (CPK=1000 IU/L, LDH=600 IU/L). Cerebral
MRI showed an atrophy of caudal nuclei. The EMG concluded sensitivo-motor axonal neuropathy, predominant in inferior limbs.
Genetic assessment for Huntington disease was negative. We retained the diagnosis of neuroacantocytosis and the treatment
was mainly symptomatic (neuroleptics and vitamins). Evolution and prognosis were poor.
Discussion:
Neuroacanthocytosisis is an autosomal recessive affection, with a progressive evolution. It appears often in
young male adults and rarely among women such in our case. Clinical symptoms include movement disorders (chorea, oro-
facial dyskinesia and oro-lingual automutilations), peripheral neuropathy and frontal dementia. Research of acanthocytes in
blood smear is important for diagnosis, showing a percentage above 5%. Persistent elevation of CPK is usual.. MRI and genetic
research showed that an atrophy of caudal nuclei can cause mutation in chromosome 9q21-22 gene. Treatment is mainly based
on vitamins, neuroleptics and psychotherapy.
Conclusion:
Neuroacanthocytosis is a rare affection with a polymorphous clinical expression. We should consider psychiatric
symptoms as an inaugural form of its revelation.
marwagharmoul@gmail.com leilaalimd@gmail.comDiagnostic challenges of auto mutilations: a case
report
Gharmoul M, Ali L, Naguez M, Hassine A, Naija S, Ben Hlima M,
Ben Amor S and Ben Ammou
1
University of Sousse, Tunisia
2
University of Tunis El Manar, Tunisia
J Neurol Neurosci 2018, Volume: 9
DOI: 10.21767/2171-6625-C3-015