Annals of Indian Academy of Neurology
  Users Online: 483 Home | About the Journal | InstructionsCurrent Issue | Back IssuesLogin      Print this page Email this page  Small font size Default font size Increase font size


 
Table of Contents
IMAGES IN NEUROLOGY
Year : 2017  |  Volume : 20  |  Issue : 1  |  Page : 59-61
 

Labrune syndrome: A unique leukoencephalopathy


1 Department of Radiodiagnosis, St. Stephen's Hospital, New Delhi, India
2 Department of Neurology, St. Stephen's Hospital, New Delhi, India

Date of Submission31-Jan-2016
Date of Decision01-Mar-2016
Date of Acceptance30-Mar-2016
Date of Web Publication9-Feb-2017

Correspondence Address:
Sachin Sureshbabu
Department of Neurology, St. Stephen's Hospital, New Delhi - 110 054
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-2327.192386

Rights and Permissions

 



How to cite this article:
Pahuja L, Patras E, Sureshbabu S, Parkhe N, Khanna L. Labrune syndrome: A unique leukoencephalopathy. Ann Indian Acad Neurol 2017;20:59-61

How to cite this URL:
Pahuja L, Patras E, Sureshbabu S, Parkhe N, Khanna L. Labrune syndrome: A unique leukoencephalopathy. Ann Indian Acad Neurol [serial online] 2017 [cited 2017 Mar 25];20:59-61. Available from: http://www.annalsofian.org/text.asp?2017/20/1/59/192386



   Clinical Case Top


A 10-year-old male child weighing 23 kg, born of nonconsanguinous union with no perinatal complications first sought medical attention for headache of 1 year duration which was predominantly in the frontal and occipital region, throbbing in nature, almost continuous, which interfered with her sleep and studies. Cough worsened the headache. He was admitted to our facility following aggravation of headache with recurrent bouts of vomiting and focal seizures typified by left hemifacial clonic movements. General physical was unremarkable. The visual examination did not reveal telengiectasias, exudates, retinopathy, optic atrophy, or any other relevant findings. Neurological examination revealed a fully conscious and alert child with mildly increased muscle tone, brisk deep tendon reflexes, bilateral extensor plantar response, subtle signs of neck rigidity and positive Kernig's sign and symmetrical cerebellar signs in the form of limb dysmetria, intention tremor, and gait ataxia. There was history of antitubercular therapy taken for 9 months for tubercular lymphadenitis at the age of 2 years.

Complete blood count, sedimentation rate, liver and renal function tests, serum calcium, phosphate, alkaline phosphatase levels, chest radiograph, and abdominal sonogram were within normal limits. Serological tests for hydatid, toxoplasma, cysticercosis, cryptococcosis, cytomegalovirus immunodeficiency, and human virus (HIV) were negative.

Computed tomography (CT) topogram revealed luckenschadel skull with intracranial calcification [Figure 1]a. Axial sections of brain revealed extensive calcification involving bilateral deep cerebellar nuclei, gray and white matter junction and bilateral gangliocapsular region and thalami [Figure 1]b,[Figure 1]c,[Figure 1]d. Magnetic resonance imaging (MRI) of the brain revealed extensive T2 and fluid-attenuated inversion recovery hyperintensity involving bilateral periventricular white matter with sparing of subcortical U-fibers and corpus callosum [Figure 2]a,[Figure 2]b,[Figure 2]c,[Figure 2]d with cystic changes and obstructive hydrocephalus [Figure 3]a,[Figure 3]b,[Figure 3]c,[Figure 3]d. The calcification seen in CT showed hypointense signal intensity on T2-weighted image (WI), gradient echo (GRE), T1-WI with blooming on GRE [Figure 4]a and [Figure 4]b.
Figure 1: (a) Computed tomography topogram revealed luckenschadel skull with intracranial calcification. (b) Non contrast axial computed tomography image showing calcification of the Dentate nuclei. (c) Non contrast axial computed tomography images showing exuberant calcification in bilateral Gangliocapsular region, Thalamus (red arrows) and (d) grey-white matter junction

Click here to view
Figure 2: T2-weighted (a and b) and corresponding fluid-

Click here to view
Figure 3: T1-weighted (a and b) and corresponding T2-weighted (c and d) images showing cysts in bilateral Cerebellar hemispheres (white arrow), above the third ventricle and in the region of Pineal gland. There is also associated obstructive hydrocephalus

Click here to view
Figure 4: (a and b) magnetic resonance imaging shows blooming in bilateral Basal Ganglia, Thalami and Dentate nuclei on gradient echo images suggesting calcification

Click here to view


The clinical and radiological picture was classical of leukoencephalopathy, cerebral calcifications and cysts (LCC) with features of obstructive hydrocephalus. A ventriculo-peritoneal shunt was advised by the neurosurgery team, but the family was not willing for any invasive procedures. The patient was started on valproic acid and acetazolamide which produced good symptomatic relief.


   Discussion Top


The association of extensive cerebral calcification, white matter changes, and cysts is an entity described by Labrune et al., in 1996[1] as LCC. It is extremely rare with only 10 cases reported so far in the medical literature. It has been reported from around the world in children and adults, with onset up to 59 years. The ubiquitous presentation with seizures and progressive neurodeficit in a child invites a huge list of differential diagnoses, but the classical radiological features make the diagnosis of LCC unmistakable.[2]

Close differentials include parasitic infections such as hydatid, cysticercosis, and cryptococcosis. In neurocysticercosis, there are multiple cystic lesions with variable parenchymal calcification.[3] Gelatinous pseudocyst and parenchymal calcification are reported in HIV patients with cryptococcosis.[4] However, no serologic evidence was found for these infections and in addition, leukoencephalopathy is not a characteristic feature of these entities. Other diseases which show extensive basal ganglia and cerebellar nuclei calcification like Fahr's disease do not have other features such as cystic lesions and leukoencephalopathy. To the best of our knowledge, ours is probably the first case of a child reported in Asia. Our patient presented with raised intracranial pressure and cyst related mass effects, which are the main presenting features of LCC. Etiopathogenesis of LCC is still a matter of debate. Obliterative microangiopathy has been found to be the basic abnormality in histopathological examination. It is postulated that cyst formation is due to necrotic process secondary to obliterative microangiopathy and calcification seen is dystrophic in nature.[5] White matter changes are a result of changes in water content rather than a primary abnormality of myelination. Clinical presentations are myriad and include convulsions, pyramidal, extrapyramidal cerebellar features, cognitive decline, retinal microangiopathy, and dystonia. Progression and severity can be variable. Calcifications are reported predominantly in basal ganglia but can also occur in cerebellum and cerebral cortex.[6] Parenchymal cysts can occur both in cerebral hemispheres and infratentorial compartment. White matter changes are seen predominantly in relation to the cysts and in the periventricular location.[7] Similar leukoencephalopathy, cysts, and calcification have been reported in few cases in association with Coat's disease, an emerging entity described as “Coat's plus.”[8] Coat's disease is unilateral retinal telangiectasia with exudation commonly occurring in boys sporadically without systemic features. However, in Coat's plus, there is bilateral retinal telangiectasia with exudation along with systemic features in the form of LCC. However, in our case, examination of eyes revealed no retinal abnormality. Another entity which deserves a special mention is cerebroretinal microangiopathy with calcifications and cysts.[7] This includes both LCC and Coat's plus diseases. A certain degree of overlap has been seen in anecdotal reports between these two entities, but the identification of the CTC1 gene has endowed a distinct genetic identity for the latter. The commonality remains at the level of the pathophysiological mechanisms especially the presence of obliterative microangiopathy. However, further studies are needed to validate this concept.[8]


   Conclusion Top


We can say that, even though this triad of CT/MRI findings has been observed in other diseases, it is fairly characteristic to allow the diagnosis of Labrune syndrome to be made. This is only the second report of this distinct neuro-radiological constellation from the subcontinent.[9] Another noteworthy previously unreported feature of the present case was the presence of multiple cysts in both the supra and infratentorial compartments along with other typical findings of Labrune syndrome.

Acknowledgments

We acknowledge the Director of St. Stephen's Hospital and the hospital management for allowing us to publish this work.

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. Neurology 1996;46:1297-301.  Back to cited text no. 1
    
2.
Nagae-Poetscher LM, Bibat G, Philippart M, Rosemberg S, Fatemi A, Lacerda MT, et al. Leukoencephalopathy, cerebral calcifications, and cysts: New observations. Neurology 2004;62:1206-9.  Back to cited text no. 2
    
3.
Turkulov V, Madle-Samardzija N, Canak G, Vukadinov J, Aleksic-Dordevic M. Clinical and diagnostic approaches to neurocysticercosis. Med Pregl 2001;54:353-6.  Back to cited text no. 3
    
4.
Caldemeyer KS, Mathews VP, Edwards-Brown MK, Smith RR. Central nervous system cryptococcosis: Parenchymal calcification and large gelatinous pseudocysts. AJNR Am J Neuroradiol 1997;18:107-9.  Back to cited text no. 4
    
5.
Corboy JR, Gault J, Kleinschmidt-DeMasters BK. An adult case of leukoencephalopathy with intracranial calcifications and cysts. Neurology 2006;67:1890-2.  Back to cited text no. 5
    
6.
Sener U, Zorlu Y, Men S, Bayol U, Zanapalioglu U. Leukoencephalopathy, cerebral calcifications, and cysts. AJNR Am J Neuroradiol 2006;27:200-3.  Back to cited text no. 6
    
7.
Briggs TA, Abdel-Salam GM, Balicki M, Baxter P, Bertini E, Bishop N, et al. Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). Am J Med Genet A 2008;146A:182-90.  Back to cited text no. 7
    
8.
Wang Y, Cheng G, Dong C, Zhang J, Meng Y. Adult-onset leukoencephalopathy, brain calcifications and cysts: A case report. J Med Case Rep 2013;7:151.  Back to cited text no. 8
    
9.
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. 9
[PUBMED]  Medknow Journal  


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]



 

Top
Print this article  Email this article

    

 
   Search
 
  
    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
    Article in PDF (868 KB)
    Citation Manager
    Access Statistics
    Reader Comments
    Email Alert *
    Add to My List *
* Registration required (free)  


   Clinical Case
   Discussion
   Conclusion
    References
    Article Figures

 Article Access Statistics
    Viewed291    
    Printed5    
    Emailed0    
    PDF Downloaded25    
    Comments [Add]    

Recommend this journal