A case of mixed geno—Phenotype of generalized dystonia and strumpel disease

doi:10.4236/crcm.2013.28114

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Vol.2, No.8, 437-438 (2013) Case Reports in Clinical Medicine

http://dx.doi.org/10.4236/crcm.2013.28114

A case of mixed geno—Phenotype of generalized

dystonia and strumpel disease*

Vadim Belenky

Yavorskiy Homeopathic Clinic, Saint Petersburg, Russia; [email protected]

Received 3 September 2013; revised 30 September 2013; accepted 29 October 2013

permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

ABSTRACT

Background: St rumpel disease and dystonia are

inherited disorders with the clinical picture of

spastic paraparesis and hyperkinesis respec-

tively. We present a case of a patient born from

parents with these diseases who developed

neurologic phenomena uncharacteristic for the

classical clinical picture of his parents’ disor-

ders. Case report: Patient V., 12, born from his

father with generalized dystonia and mother

with Strumpel disease, has flaccid lower para-

plegia along with dystonic hyperkinesis in neck

and arms. Discussion: The flaccid lower para-

plegia could be caused by the anterior horn le-

sion. This phenomenon is unclear because an-

terior horn lesions were not diagnosed in the

proband’s parents.

Keywords: Dystonia; Strumpel Disease; DYT 1

1. INTRODUCTION

Dystonia and Strumpel diseases, i.e. hereditory spastic

paraparesis (HSP), are heterogenious conditions; muta-

tions in more than 50 different genetic loci have been

described to cause HSP and more than 20 different ge-

netic forms of dystonia. Lesions of extrapyramidal sys-

tem are responsible for clinical signs of dystonia with

extrapyramidal rigidity in muscles. In case of Strumpel

disease with lower spastic paraparesis, caused by lesions

of corticospinal tract, spasticity in muscles grows by a

pyramidal type. Flaccid paresis is not characteristic for

either of these two disorders. Patient V., 12, born from

his father with generalized non-DYT 1 dystonia and

mother with Strumpel disease, has flaccid lower paraple-

gia along with hands and neck dystonia.

2. CASE STORY

I first met patient S. with generalized non-DYT 1

dystonia in 1987 on summer practice at neurologic de-

partment, being a third year student of a medical school.

He then was 21. He fell ill at the age of 9 and soon in-

voluntary movements became generalized. None of his

relatives was affected by this disease. Though classical

research of Eldridge [1] established superior IQ of pa-

tients with recessive forms of dystonia, we observed very

clever and vivid mind in our patient. Later he married a

woman with indolently progressive Strumpel disease,

and their son inherited both parents’ diseases—from

early childhood he developed flaccid lower paraplegia

with complete absence of strength in legs and dystonic

hyperkinesis in neck and arms, while having IQ as high

as his father’s. The son underwent embryonal transplan-

tation surgery into his brain with no significant effect.

His father—patient S.—when hospitalized was given

L-Dopa with no effect. I started tryhehyphenidyl therapy

for patient S, which resulted in considerable improve-

ment in his condition. Test for DYT 1 proved negative.

Along with test results of my other primary dystonia pa-

tients from the monitored group his serotonin exchange

tended to be on the increase. His videoexamination was

conducted befo re tryhehyph enidyl therap y (Figures 1-3).

Unfortunately, the mother of the proband refused to

videotype her son after brutal murder of her hus-

band—patient S. on May 9th 2005—Russia’s national

Victory Day holiday; patient S. ventured to leave the

house in his wheelchair for the first time after the winter

and never got back. Later he was found dead with tens of

stab wounds and his neck cut.

3. DISCUSSION

More than 20 genetic loci of dystonia have been dis-

covered so far [2 ], but the clinical picture of the disorder

of our proband’s father, i.e. non DYT-1 early onset gen-

eralized autosomal dominant dystonia, differs from all

*Financial disclosure: The study was not funded.

V. Belenky / Case Reports in Clinical Medicine 2 (2013) 437-438

438

Figure 1. Patient S., father of proband, patient V., speaking.

Figure 2. Patient S., father of proband, patient V., sitting.

Figure 3. Patient S., father of proband, patient V., walking.

known phenotypes. The closest one is DYT-6 phenotype

with gene mutated on chromosome 8, encoding apop-

tosis-associated protein, but in this type of dystonia legs

are rarely affected. On the other side, Fasano et al., who

studied early-onset non-DYT-1 dystonia, revealed lower

limbs’ lesion in 37% of patients fro m this group [3 ]. The

above mentioned facts together might be indicative of a

possibility that the genetic defect, responsible for dysto-

nia in our family and probably in some of Fasano’s pa-

tients, diff ers from the 20 ones described so far.

Moderate flaccid paraparesis caused by partial loss of

anterior horn is rarely observed in some forms of HPS

[4]. However, total lower flaccid paraplegia can be ex-

plained by severe lesions of anterior horns. No such

cases have ever been published before either for Strum-

pel disease or for dystonia. We can suggest with great

caution that in this type of dystonia after loss of pyrami-

dal control cell-defects in anterior horns are displayed in

the form of flaccid paraplegia.

REFERENCES

[1] Eldridge, R., Edgar, A. and Cooper, I.S. (1971) Genetics,

geography and intelligence in the torsion dystonias. Birth

Defects Original Article Series, 7, 167-177.

[2] Ozelius, L., Lubarr, N. and Bressman, S. (2011) Mile-

stones in dystonia. Movement Disorders, 6, 1106-1126.

http://dx.doi.org/10.1002/mds.23775

[3] Fasano, A., Nardocci, N., Emanuele, A., Zorzi, G., Ben-

tivoglio, A. and Albanese, A. (2006) Non-DYT1 early-

onset primary torsion dystonia: Comparison with DYT1

phenotype and review of the literature. Movement Disor-

ders, 9, 1411-1418. http://dx.doi.org/10.1002/mds.21000

[4] Nomura, H., Koike, F., Tsuruta, Y., Iwaki, A., and Iwaki,

T. (2001) Autopsy case of autosomal recessive hereditary

spastic paraplegia with reference to the muscular patho-

logy. Neuropathology, 21, 212-217.

http://dx.doi.org/10.1046/j.1440-1789.2001.00388.x