Labrune syndrome
Diagnosis almost certain
Updates to Case Attributes
Status
changed from pending review to published (public).
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.
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Age
changed from 33 years to 35 years.
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Labrune syndrome consists of:
1.
- Extensive white matter signal changes - suggestive of leukoencephalopathy.
2. - Clustered cystic lesions in bi-frontal cerebral hemispheres with wall calcifications.
3. - Extensive cerebral calcifications involving the right capsuloganglionic region, left thalamus and bilateral dentate nuclei.
In view of the above classical triad of findings (LCC- leukoencephalopathy with cerebral calcifications and cysts), differentials considered were a(a) Labrune syndrome and b(b) Coat's plus syndrome. Parasitic disease and tumours were considered less likely.
The patient underwent an ophthalmological evaluation to rule out retinal telangiectasia, which was normal. Hence, Coats plus syndrome was ruled out.
Stereotactic biopsy from the left frontal lobe showed nervous tissue with microcystic change, reactive astrocytosis, focal microcalcification, congestion, perivascular hyalinisation and focal perivascular chronic inflammation. No evidence of definite vasculitis or granulomatous inflammation. Special stains for fungal organisms were negative.
A blood sample was sent for SNORD 118 mutation analysis, the results of which are awaited.
-<p>Labrune syndrome:</p><p> </p><p>1. Extensive white matter signal changes - suggestive of leukoencephalopathy. </p><p>2. Clustered cystic lesions in bi-frontal cerebral hemispheres with wall calcifications.</p><p>3. Extensive cerebral calcifications involving the right capsuloganglionic region, left thalamus and bilateral dentate nuclei. </p><p> </p><p>In view of the above classical triad of findings (LCC- leukoencephalopathy with cerebral calcifications and cysts), differentials considered were a) Labrune syndrome and b) Coat's plus syndrome. Parasitic disease and tumours were considered less likely.</p><p>The patient underwent an ophthalmological evaluation to rule out retinal telangiectasia which was normal. Hence Coats plus syndrome was ruled out. </p><p>Stereotactic biopsy from the left frontal lobe showed nervous tissue with microcystic change, reactive astrocytosis, focal microcalcification, congestion, perivascular hyalinisation and focal perivascular chronic inflammation. No evidence of definite vasculitis or granulomatous inflammation. Special stains for fungal organisms were negative. </p><p>A blood sample was sent for SNORD 118 mutation analysis, the results of which are awaited.</p><p> </p><p> </p>- +<p>Labrune syndrome consists of:</p><ol>
- +<li>Extensive white matter signal changes - suggestive of leukoencephalopathy. </li>
- +<li>Clustered cystic lesions in bi-frontal cerebral hemispheres with wall calcifications.</li>
- +<li>Extensive cerebral calcifications involving the right capsuloganglionic region, left thalamus and bilateral dentate nuclei. </li>
- +</ol><p>In view of the above classical triad of findings (LCC- leukoencephalopathy with cerebral calcifications and cysts), differentials considered were (a) Labrune syndrome and (b) Coat's plus syndrome. Parasitic disease and tumours were considered less likely.</p><p>The patient underwent an ophthalmological evaluation to rule out retinal telangiectasia, which was normal. Hence, Coats plus syndrome was ruled out. </p><p>Stereotactic biopsy from the left frontal lobe showed nervous tissue with microcystic change, reactive astrocytosis, focal microcalcification, congestion, perivascular hyalinisation and focal perivascular chronic inflammation. No evidence of definite vasculitis or granulomatous inflammation. Special stains for fungal organisms were negative. </p><p>A blood sample was sent for SNORD 118 mutation analysis, the results of which are awaited.</p>
References changed:
- 2. Sener U, Zorlu Y, Men S et-al. Leukoencephalopathy, cerebral calcifications, and cysts. AJNR Am J Neuroradiol. 2006;27 (1): 200-3
- 3. Gulati A, Singh P, Ramanathan S et-al. A case of leukoencephalopathy, cerebral calcifications and cysts. Ann Indian Acad Neurol. 2011;14 (4): 310-2. doi:10.4103/0972-2327.91964
- 3. Sener U, Zorlu Y, Men S et-al. Leukoencephalopathy, cerebral calcifications, and cysts. AJNR Am J Neuroradiol. 2006;27 (1): 200-3
- 2. Gulati A, Singh P, Ramanathan S et-al. A case of leukoencephalopathy, cerebral calcifications and cysts. Ann Indian Acad Neurol. 2011;14 (4): 310-2. doi:10.4103/0972-2327.91964
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