Annals of Indian Academy of Neurology
IMAGES IN NEUROLOGY
Year
: 2017  |  Volume : 20  |  Issue : 1  |  Page : 59--61

Labrune syndrome: A unique leukoencephalopathy


Leena Pahuja1, Elisheba Patras1, Sachin Sureshbabu2, Nittin Parkhe1, Laxmi Khanna2,  
1 Department of Radiodiagnosis, St. Stephen's Hospital, New Delhi, India
2 Department of Neurology, St. Stephen's Hospital, New Delhi, India

Correspondence Address:
Sachin Sureshbabu
Department of Neurology, St. Stephen's Hospital, New Delhi - 110 054
India




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 2022 Oct 2 ];20:59-61
Available from: https://www.annalsofian.org/text.asp?2017/20/1/59/192386


Full Text

 Clinical Case



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}{Figure 2}{Figure 3}{Figure 4}

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



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



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

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