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NEUROIMAGE
Year : 2021  |  Volume : 69  |  Issue : 4  |  Page : 1116-1118

A Rare Cause of Generalized Dystonia in Adolescence: Labrune Syndrome


Department of Neurology, Bangur Institute of Neurosciences, IPGMER and SSKM Hospital, Kolkata, West Bengal, India

Date of Submission26-Jul-2018
Date of Decision12-Mar-2020
Date of Acceptance19-Jul-2020
Date of Web Publication2-Sep-2021

Correspondence Address:
Durjoy Lahiri
10/1 Roy Para Bye Lane, P.O. Sinthee, Kolkata - 700 050, West Bengal
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.325364

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How to cite this article:
Dubey S, Lahiri D, Ray BK. A Rare Cause of Generalized Dystonia in Adolescence: Labrune Syndrome. Neurol India 2021;69:1116-8

How to cite this URL:
Dubey S, Lahiri D, Ray BK. A Rare Cause of Generalized Dystonia in Adolescence: Labrune Syndrome. Neurol India [serial online] 2021 [cited 2021 Dec 5];69:1116-8. Available from: https://www.neurologyindia.com/text.asp?2021/69/4/1116/325364




The constellation of cerebral calcification, white matter disease, and cyst in brain parenchyma is known as Labrune syndrome, after the name of the author who first described it in 1996.[1] It is an exceptionally rare disease, and very few reports are available in the medical literature. Only two cases have been reported from India as of 2018.[2],[3] Headache, seizure, and focal neurologic deficit have been reported as a clinical presentation of this syndrome.[4] We present here a case of Labrune syndrome with pure extrapyramidal manifestation.

A 15-year-old boy, born of non consanguineous marriage, presented to us with acute onset of generalized dystonia for 10 days, which started following the resolution of a 1-week episode of febrile illness. He had no history of any neurological illness in the past. There was no history of any similar illness in the family. When brought to us, he was afebrile with intact sensorium. There was generalized dystonia including trunk and oro-mandibular dystonia.

His CT scan brain revealed extensive calcification in bilateral thalamus, basal ganglia, and subcortical white matter. Cysts with calcification were visible in both cerebellar hemispheres with larger size of the cyst on left side. Periventricular symmetric hypodense areas were also detected [Figure 1].
Figure 1: CT scan Brain axial section shows extensive hyperdense lesions suggestive of calcifications involving bilateral basal ganglia, thalamus, periventricular white matter as well as cerebellar hemispheres. Cystic lesions are observable in the cerebellar hemispheres bilaterally. Additional finding is the presence of cavum septum pellucidum

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MRI brain revealed a large cyst with perilesional edema [Figure 2]a and [Figure 2]b and calcification in left cerebellar hemisphere with a smaller cyst on right, diffuse symmetric periventricular white matter hyperintensity in T2/FLAIR sequence [Figure 3]a and [Figure 3]b and calcification in bilateral basal ganglia in GRE sequence [Figure 4]. Cavum septum pellucidum was also found. There were few patchy areas of contrast enhancement in periventricular as well as subcortical white matter. Examination of eye in this case did not reveal any retinal abnormalities, which effectively ruled out the possibility of Coat's plus disease.The patient received symptomatic management with oral medications that included trihexyphenydyl in titrated dose (up to 12 mg/day) and benzodiazepine (clonazepam 2 mg/day) with partial improvement in dystonic posturing. Patients' relatives declined to go for neurosurgical interventions after being properly informed about the risks and prognosis. He has been in follow up at the movement disorder clinic of our institute for more than one year.
Figure 2: (a) MRI Brain (Axial section) T1 sequence showing periventricular hypodense areas along with some paraventricular “black hole” areas suggestive of chronic white matter disease. (b) MRI brain (Sagittal section) shows large cyst in the left cerebellar hemisphere

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Figure 3: (a) MRI brain (Axial section) T2/FLAIR sequence showing periventricular extensive and bilaterally symmetric hyperintensity in white matter. (b) MRI brain (Axial section) T2/FLAIR sequence showing large cyst with surrounding edema in left cerebellar hemisphere

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Figure 4: MRI brain (Axial section) GRE sequence showing bilateral basal ganglia, thalamus, and subcortical white matter calcification

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To the best of our knowledge, this is the third reported case of Labrune syndrome from India. The acute presentation with generalized dystonia coupled with typical neuro-radiological finding of leukoencephalopathy, calcification, and cyst in our case makes it a unique one.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Labrune P, Lacroix C, Goutières F, de Laveaucoupet J, Chevalier P, Zerah M, et al. Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: A new progressive disorder due to diffuse cerebral microangiopathy.Neurology1996;46:1297-301.  Back to cited text no. 1
    
2.
Pahuja L, Patras E, Sureshbabu S, Parkhe N, Khanna L. Labrune syndrome: A unique leukoencephalopathy.Ann Indian Acad Neurol 2017;20:59-61.  Back to cited text no. 2
[PUBMED]  [Full text]  
3.
Gulati A, Singh P, Ramanathan S, Khandelwal N. A case of leukoencephalopathy, cerebral calcifications and cysts.Ann Indian Acad Neurol 2011;14:310-2.  Back to cited text no. 3
[PUBMED]  [Full text]  
4.
Stephani C, Pfeifenbring S, Mohr A, Stadelmann C. Late-onset leukoencephalopathy with cerebral calcifications and cysts: Case report and review of the literature. BMC Neurol 2016;16:19.  Back to cited text no. 4
    


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