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Clinical variability of neuroacanthocytosis syndromes : A series of six patients with long follow-up

Dulski, J.; Sołtan, W.; Schinwelski, M.; Rudzińska, M.; Wójcik-Pȩdziwiatr, M.; Wictor, L. LU ; Schön, F.; Puschmann, A. LU ; Klempíř, J. and Tilley, L., et al. (2016) In Clinical Neurology and Neurosurgery 147. p.78-83
Abstract

Objective To provide clinical clues to differential diagnosis in patients with chorea and other movement disorders with blood acanthocytes. Methods We present a long-term video accompanied follow-up of six Caucasian patients with neuroacanthocytosis from several centers, three diagnosed with chorea-acanthocytosis (ChAc): 34-y.o.(no.1), 36-y.o.(no.2), 43-y.o.(no.3), two diagnosed with McLeod Syndrome (MLS): 52-y.o.(no.4), 61-y.o.(no.5) and one 63-y.o.(no.6), a brother of no.5, with clinical suspicion of MLS. Additionally we report pathological findings of the mother of two brothers with MLS reported in our series with acanthocytes on peripheral blood smear Results The patients had an unremarkable family history and were asymptomatic... (More)

Objective To provide clinical clues to differential diagnosis in patients with chorea and other movement disorders with blood acanthocytes. Methods We present a long-term video accompanied follow-up of six Caucasian patients with neuroacanthocytosis from several centers, three diagnosed with chorea-acanthocytosis (ChAc): 34-y.o.(no.1), 36-y.o.(no.2), 43-y.o.(no.3), two diagnosed with McLeod Syndrome (MLS): 52-y.o.(no.4), 61-y.o.(no.5) and one 63-y.o.(no.6), a brother of no.5, with clinical suspicion of MLS. Additionally we report pathological findings of the mother of two brothers with MLS reported in our series with acanthocytes on peripheral blood smear Results The patients had an unremarkable family history and were asymptomatic until adulthood. Patients no. 1,2,4,5,6 developed generalized chorea and patient no. 3 had predominant bradykinesia. Patients no. 1,2,3 had phonic and motor tics, additionally patients no. 1 and 2 exhibited peculiar oromandibular dystonia with tongue thrusting. In patients no. 2 and 3 dystonic supination of feet was observed, patient no. 3 subsequently developed bilateral foot drop. Patients no. 2 and 4 had signs of muscle atrophy. Tendon reflexes were decreased or absent and electroneurography demonstrated sensorimotor neuropathy in patients no. 1,2,3,4,5, except no. 6. Generalized seizures were seen in patients no. 2,3,5,6 and myoclonic jerks in patient no. 1. Cognitive deterioration was reported in patients no. 1,2,3,5,6. Serum creatine kinase levels were elevated in all six patients. Conclusion We highlight the variability of clinical presentation of neuroacanthocytosis syndromes and the long time from the onset to diagnosis with the need to screen the blood smears in uncertain cases, however, as in one of our cases acanthocytes may even be not found. Based on our observations and data from the literature we propose several red flags that should raise the suspicion of an NA syndrome in a patient with a movement disorder: severe orofacial dyskinesia with tongue and lip-biting (typical of ChAc), feeding dystonia, psychiatric and cognitive disturbances, seizures, peripheral neuropathy, elevation of creatine kinase, elevation of transaminases, hepatosplenomegaly, cardiomyopathy and arrhythmias, and an X-linked pattern of inheritance (McLeod Syndrome, MLS).

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publication status
published
subject
keywords
Acanthocytes, Chorea, McLeod syndrome, Neuroacanthocytosis
in
Clinical Neurology and Neurosurgery
volume
147
pages
6 pages
publisher
Elsevier
external identifiers
  • Scopus:84974720036
ISSN
0303-8467
DOI
10.1016/j.clineuro.2016.05.028
language
English
LU publication?
yes
id
bc87399d-e7a2-4f13-954e-dee4e945e5cf
date added to LUP
2016-07-08 14:36:33
date last changed
2016-09-20 03:09:00
@misc{bc87399d-e7a2-4f13-954e-dee4e945e5cf,
  abstract     = {<p>Objective To provide clinical clues to differential diagnosis in patients with chorea and other movement disorders with blood acanthocytes. Methods We present a long-term video accompanied follow-up of six Caucasian patients with neuroacanthocytosis from several centers, three diagnosed with chorea-acanthocytosis (ChAc): 34-y.o.(no.1), 36-y.o.(no.2), 43-y.o.(no.3), two diagnosed with McLeod Syndrome (MLS): 52-y.o.(no.4), 61-y.o.(no.5) and one 63-y.o.(no.6), a brother of no.5, with clinical suspicion of MLS. Additionally we report pathological findings of the mother of two brothers with MLS reported in our series with acanthocytes on peripheral blood smear Results The patients had an unremarkable family history and were asymptomatic until adulthood. Patients no. 1,2,4,5,6 developed generalized chorea and patient no. 3 had predominant bradykinesia. Patients no. 1,2,3 had phonic and motor tics, additionally patients no. 1 and 2 exhibited peculiar oromandibular dystonia with tongue thrusting. In patients no. 2 and 3 dystonic supination of feet was observed, patient no. 3 subsequently developed bilateral foot drop. Patients no. 2 and 4 had signs of muscle atrophy. Tendon reflexes were decreased or absent and electroneurography demonstrated sensorimotor neuropathy in patients no. 1,2,3,4,5, except no. 6. Generalized seizures were seen in patients no. 2,3,5,6 and myoclonic jerks in patient no. 1. Cognitive deterioration was reported in patients no. 1,2,3,5,6. Serum creatine kinase levels were elevated in all six patients. Conclusion We highlight the variability of clinical presentation of neuroacanthocytosis syndromes and the long time from the onset to diagnosis with the need to screen the blood smears in uncertain cases, however, as in one of our cases acanthocytes may even be not found. Based on our observations and data from the literature we propose several red flags that should raise the suspicion of an NA syndrome in a patient with a movement disorder: severe orofacial dyskinesia with tongue and lip-biting (typical of ChAc), feeding dystonia, psychiatric and cognitive disturbances, seizures, peripheral neuropathy, elevation of creatine kinase, elevation of transaminases, hepatosplenomegaly, cardiomyopathy and arrhythmias, and an X-linked pattern of inheritance (McLeod Syndrome, MLS).</p>},
  author       = {Dulski, J. and Sołtan, W. and Schinwelski, M. and Rudzińska, M. and Wójcik-Pȩdziwiatr, M. and Wictor, L. and Schön, F. and Puschmann, A. and Klempíř, J. and Tilley, L. and Roth, J. and Tacik, P. and Fujioka, S. and Drozdowski, W. and Sitek, E. J. and Wszolek, Z. and Sławek, J.},
  issn         = {0303-8467},
  keyword      = {Acanthocytes,Chorea,McLeod syndrome,Neuroacanthocytosis},
  language     = {eng},
  month        = {08},
  pages        = {78--83},
  publisher    = {ARRAY(0xaa64568)},
  series       = {Clinical Neurology and Neurosurgery},
  title        = {Clinical variability of neuroacanthocytosis syndromes : A series of six patients with long follow-up},
  url          = {http://dx.doi.org/10.1016/j.clineuro.2016.05.028},
  volume       = {147},
  year         = {2016},
}