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

Background Leukoencephalopathy with brain calcifications and cysts (LCC; also known as Labrune syndrome) is a rare genetic microangiopathy caused by biallelic mutations in SNORD118. The mechanisms by which loss-of-function mutations in SNORD118 lead to the phenotype of leukoencephalopathy, calcifications and intracranial cysts is unknown. Case presentation We present the histopathology of a 36-year-old woman with ataxia and neuroimaging findings of diffuse white matter abnormalities, cerebral calcifications, and parenchymal cysts, in whom the diagnosis of LCC was confirmed with genetic testing. Biopsy of frontal white matter revealed microangiopathy with small vessel occlusion and sclerosis associated with axonal loss within the white matter. Conclusions These findings support that the white matter changes seen in LCC arise as a consequence of ischemia rather than demyelination.

Prepontine intracerebral cyst with spontaneous resolution

Background: Intracranial cysts in the prepontine region are rare and can lead to various complications if not managed appropriately. Symptomatic prepontine cysts may require surgical intervention. However, spontaneous resolution of such cysts is rarely reported in literature. Case Description: We describe the case of a middle-aged lady who presented with headaches and imbalance, with no focal neurological deficits on examination. Magnetic resonance imaging (MRI) of the brain showed a prepontine cyst compressing the brainstem with craniocaudal extension through the foramen magnum. The patient was given symptomatic treatment and followed closely with repeat MRI scans. These scans showed regression and eventual disappearance of the lesion, with complete resolution of symptoms. Conclusion: In light of the few reported cases of spontaneous resolution of prepontine cysts, we highlight the possibility of these lesions to self-resolve.

Surgical management of intracranial arachnoid cysts in pediatric patients: radiological and clinical outcome

OBJECTIVE Congenital intracranial cysts account for a significant portion of intracranial lesions in the pediatric population. The efficiency of surgical treatment in a pediatric cohort with intracranial arachnoid cysts (ACs) at different locations regarding clinical symptoms and mass effect was evaluated. METHODS A retrospective study of all children who underwent surgical treatment of an intracranial AC during an 11-year period (2007–2018) was performed. Demographics, clinical symptoms, and radiological cyst size pre- and postoperatively, as well as the reoperation rate and possible treatment complications, were analyzed. RESULTS A total of 116 intracranial cysts at 8 different anatomical locations were surgically treated in 113 children (median age 5 years and 10 months) predominantly by endoscopic technique (84%). The complication rate was 3%, and the reoperation rate was 16%. Preoperative cyst enlargement was significantly more common in infants (p < 0.0001), as was the need for reoperation (p = 0.023). After a median radiological follow-up of 26 months, > 50% reduction of cyst volume was seen in 53 cysts (46%), and 47 cysts (40%) showed a 10%–50% reduction. Acute clinical symptoms improved: nausea and vomiting, accelerated head growth, and headaches improved at 100%, 92% and 89%, respectively. However, chronic symptoms responded less favorably after a median clinical follow-up of 26 months. CONCLUSIONS The strategy of predominantly endoscopic treatment with navigation planning is efficient to alleviate clinical symptoms and to significantly reduce the mass effect of pediatric intracranial cysts at different anatomical locations. The subgroup of infants requires close pre- and postoperative monitoring.

Case Report of Cerebellar Endometriosis

Endometriosis is a disorder in women which is characterized by extrauterine manifestations. We describe a case of cerebellar endometriosis in a 39-year-old woman who underwent posterior fossa decompression multiple times without establishing a correct diagnosis. Her neurologic status progressively worsened due to chronic hydrocephalus and brainstem compression by cysts. Late in the clinical course, histology from the cyst wall was taken that revealed endometriosis with clear cells and positive immunohistology for progesterone and estrogen receptors. Treatment with gestagens was started but did not improve the patient's status. In patients with chronic recurring intracranial cysts and hydrocephalus, cerebral endometriosis should be considered.

Nonneoplastic Cystic Lesions of the Central Nervous System—Histomorphological Spectrum: A Study of 538 Cases

Background A wide spectrum of non-neoplastic cystic lesions can occur in the central nervous system (CNS). These are uncommon, benign and of diverse aetiology, pathogenesis and clinical presentation.The spectrum of these lesion varies based on the location and in turn histogenesis. Objectives To evaluate the pathologic spectrum of non-neoplastic cystic lesions in the CNS (both developmental and acquired) and highlight the role of histopathology in the diagnosis of these cystic lesions. Settings and Design This was a retrospective study done at Department of Neuropathology,NIMHANS. Materials and Methods All the histologically diagnosed non-neoplastic cystic lesions of CNS submitted to the Department of Neuropathology between 2014 and 2017 were reviewed in this study. The data was analysed in relation to the type of cysts, location(intracranial and spinal), and clinical profile using SPSS software version 17.0. Results The study included 538 cases with patient age ranging from 5 months to 90 years [M:F:1:1.05]. Non-infective cysts (489/538, 90.8%) predominated over the infective cysts (49/539, 9.2%) with epidermoid cysts (132/538, 24.5%) being the most frequent one followed by colloid cysts (126/538, 23.4%) and arachnoid cysts (111/538,20.6%). The most common infective cyst was neurocysticercosis (42/538, 7.8%) followed by hydatid cyst (7/538, 1.3%). Intracranial cysts (415/538, 77.1%) were more common than spinal ones (123/538, 22.9%). Conclusions: A variety of cystic lesions occur in the CNS with overlapping clinical features, image findings and lining. Hence, histological analysis plays a crucial role in the evaluation of these lesions.