Leukoencephalopathy with calcifications and cysts

Abstract

Rationale:Leukoencephalopathy with calcifications and cysts (LCC) is an uncommon entity characterized by edematous leukoencephalopathy, cerebral calcifications, and parenchymal cysts. Due to its rarity, the clinical, radiological, and histopathological features have yet to be well elucidated.Patient concerns:The first case is a 35-year-old female who was asymptomatic. A giant intracranial cyst was incidentally detected radiologically, and it was slowly growing in the recent 10 years. The second case is a 20-year-old female who presented with a 1-month history of headache. Brain computed tomography showed multiple asymmetric calcifications in the bilateral basal ganglia and white matter. Magnetic resonance imaging revealed a cyst in the right parietal lobe.Diagnoses:They were diagnosed with LCC.Interventions and Outcomes:The first patient underwent surgical resection of the intracranial cyst, and the second patient received a stereotactic biopsy. The patients performed well postoperatively.Lessons:LCC can be found at any age. A young age seems to be associated with severer symptoms. The clinical manifestations can be variable and aggressive. The potential pathogenic basis still needs further research.

A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic SNORD118 variants

“…The speed of LCC progression varies widely, but many patients exhibit a slow progression and mild severity. In the review of 33 cases by Ma et al., 9 cases occurred within 1 year from onset to diagnosis, whereas the other 24 cases had a an average duration of 11.4 years from onset to diagnosis [7] . Only 1 of 6 cases that appeared in infancy reviewed by Wang et al was diagnosed at infancy [8] ; the remaining 5 were diagnosed between 5 and 24 years of age [ 1 , [9] , [10] , [11] ].…”

Paediatric neurosurgical implications of a ribosomopathy: illustrative case and literature review

“…CT (age 50): intracranial calcifications and ventricular leukoencephalopathy but no cysts. MRI and CT (age 61) occipital lobe haemorrhage, progressive ventricular dilatation and expanding leukoencephalopathy Yes; heteromutation of c.38C>G and c.116G > C on different alleles N/A N/A Progressive neurological decline Iwasaki et al 2017 [ 12 ] 11 months Female Complex febrile seizures N/A MRI: Brain calcifications, leukoencephalopathy and intracranial cyst n.[39G>C]; [103G>A] N/A N/A N/A Iwasaki et al 2017 [ 12 ] 1 month Male Epilepsy N/A MRI: Brain calcifications, leukoencephalopathy and intracranial cyst n. [39G>C]; [72A>G] N/A N/A N/A Iwasaki et al 2017 [ 12 ] 9 years 2 months Male Spastic hemiplegia and dystonia N/A MRI: brain calcifications and leukoencephalopathy n. [3C>T]; [24C>T} N/a N/A N/A McNeill et al 2017 [ 16 ] 6 Male Progressive encephalopathy—intractable seizures, dystonia, chorea, spasticity and impaired cognition N/A MRI; diffuse white matter signal abnormalities and numerous calcifications throughout the brain in grey matter nuclei and juxtacortical U-fibres, periventricular white matter, brainstem, dentate nucleus of cerebellum and subcortical white matter. Yes—heterozygous mutations in EARS2 c.328G>A (p.G110S) and C.1045G>A (p.E349K) N/A 10 years Patient died at age 16.…”

Leukoencephalopathy with brain calcifications and cysts (Labrune syndrome) case report: diagnosis and management of a rare neurological disease

“…Neuroimaging features commonly described include diffuse bilateral cerebral white matter T2 hyperintensity, particularly surrounding cysts [21]. Relative sparing of the corpus callosum and subcortical U-fibres has been reported while the posterior fossa white matter is variably affected [22,23]. Cerebral calcifications are commonly asymmetrically scattered within the cerebral white matter or deep gray nuclei, rarely in the cerebellum, either as small punctate foci or larger confluent areas [11].…”

“…Cysts are likewise unevenly distributed throughout the brain parenchyma, most commonly supratentorial but as our case illustrates, may also affect the posterior fossa. Enhancement of the cyst wall and mass effect are common features whereas intracystic hemorrhage has been rarely reported [22]. Diffusion weighted imaging has suggested increased water content within abnormal appearing white matter and MR spectroscopy has suggested energy failure in the cyst wall parenchyma [21,22].…”