Leucencephalopathy with intracranial calcifications and cysts as well as conjuctival and pharyngeal teleangiectasias: Labrune syndrome variant

Aims: Labrune syndrome [OMIM 612199] is characterized by leucencephalopathy with intracranial calcifications and cysts. Combinations with Coats syndrome (retinal teleangiectasia and exsudates) were described. Since 2008 the complex of growth retardation, retinal teleangiectasia and exsudates, intracranial calcifications and cysts, leucodystrophy, osteopenia, bone marrow suppression and liver cirrhosis with gastric-intestinal bleeding is known by the acronym CRMCC (cerebroretinal microangiopathy with calcification and cysts).

Methods: Case report

Results: In a caucasian patient with intrauterine growths retardation (36 WGA, BW 1480g), few thalamic calcifications were seen immediately postnatally. He developed seizures at age 6 months, and tetraparesis was recognized in the third year of life. Since the age of 16 there has been progressive spastic-dyskinetic tetraparesis and cognitive decline, especially affecting speech production. Imaging showed multiple calcifications in the cerebrum, cerebellum and brainstem, increasing over time, progressive leucoencephalopathy and three intracranial cysts (one large in the right fronto-parietal region, two smaller ones in the right thalamic and right parapontine regions). Additionally, conjunctival and pharyngeal teleangiectasia as well as atrophy of both optic nerves were apparent. Low vitamin d3 serum levels and low kreatin and guanidinoacetate urine levels were repeatedly demonstrated (AGAT was excluded genetically). There is chronic hepatitis c (genotype 1b).

Conclusion: The combination of the typical imaging hallmarks of labrune syndrome (multiple intracranial calcifications, intracranial cysts and leucencephalopathy) and additional symptoms related to this syndrome (IUGR, spastic-dyskinetic tetraparesis, epilepsy, conjunctival and pharyngeal teleangiectasia and optic nerve atrophy) despite the absence of ‘retinal teleangiectasia and exsudates’ suggest the attribution of this case to the symptom complex of CRMCC.