Case Report: An Adult Case of Poretti-Boltshauser Syndrome Diagnosed by Medical Checkup.

This report describes an adult case of Poretti-Boltshauser syndrome (PTBHS) and with novel variants of LAMA1. A 65-year-old Japanese woman with cerebellar malformation identified during a medical checkup was referred to our hospital. Subsequently, neurological examination, brain imaging, and genetic investigation via whole-exome sequencing were performed. The patient presented with mild cerebellar ataxia and intellectual disability. Magnetic resonance imaging revealed cerebellar dysplasia and cysts and an absence of molar tooth sign. Genetic analysis revealed a novel homozygous variant of c.1711_1712del in LAMA1 (NM_005559.4). Most cases with PTBHS are reported in pediatric patients; however, our patient expressed a mild phenotype and was undiagnosed until her 60 s. These findings suggest that PTBHS should be considered in not only pediatric cerebellar dysplasia but also adult cerebellar ataxia with mild presentation.

Appearance of cerebellar cyst following microvascular decompression to treat hemifacial spasm: a report of two cases and literature review.

Microvascular decompression (MVD) is an effective and safe approach for treating hemifacial spasm (HFS). Postoperative complications may include facial nerve palsy, hearing loss, intracerebral haematoma, and brainstem infarction. The occurrence of intracranial cyst following MVD is extremely rare, with few cases documented in the literature. Herein, the cases of two patients with HFS who developed ipsilateral cerebellar cyst following MVD are reported. The first patient was a 50-year-old male presenting with a 6-year history of HFS on the right side of his face. MVD was performed, and 12 days postoperatively he developed dizziness and nausea. Magnetic resonance imaging (MRI) showed a cyst in the ipsilateral cerebellum. Antibiotic treatment provided no benefit, and the cyst was drained. The second patient was a 44-year-old female presenting with a 4-year history of HFS on the right side of her face. MVD was performed, and 18 days following surgery, she developed dizziness and nausea. MRI showed an ipsilateral cerebellar cyst. Conservative treatment was applied and the cyst shrunk. At the 2-month follow-up appointment, symptoms were completely resolved in both patients. Cerebellar cyst is a rare complication following MVD. Timely diagnosis and appropriate treatment should be emphasized, and surgical treatment may be unnecessary.

Multiple Large-Size Cystic Cerebral Cavernomas.

BACKGROUND: Cerebral cavernomas are vascular malformations characterized by networks of abnormally dilated capillaries. They typically present as nodules with mixed signal intensity and a surrounding hemosiderin rim on magnetic resonance imaging. They may occur as multiple lesions in the autosomal-dominant familial form. In rare cases, cavernomas may form cystic masses, mimicking other pathologies. CASE DESCRIPTION: A 35-year-old man presented with recurrent seizures, aphasia, and gait disturbance with onset at age 14 years. He had previously undergone surgical drainage of multiple cysts across the brain with suspected parasitic infection. On magnetic resonance imaging, 22 cystic lesions were seen across the brain. A large cyst was located in the midline cerebellum, compressing the fourth ventricle. Occipital craniotomy and transvermian dissection allowed total resection of the cyst along with its wall. The postoperative course was uneventful and symptoms progressively improved. Histological analysis revealed cavernoma. Three more surgeries were performed for removal of large supratentorial cavernomas. CONCLUSIONS: In patients with cystic lesions of the brain, the neurosurgeon should consider the possibility of cavernoma. Total excision along with the cyst wall is crucial for timely diagnosis and therapy.

Postoperative Cerebellar Cyst with Pseudomeningocele After Tumor Removal at the Craniovertebral Junction.

BACKGROUND: Cerebellar cyst formation after surgery is uncommon, and few cases of this condition have been previously reported. These cases had an intraparenchymal cyst in the cerebellar hemisphere that required surgical fenestration of the cyst. We herein present a rare case of a postoperative cerebellar cyst with pseudomeningocele and magnetic resonance images indicating a fistula between the cyst and pseudomeningocele. CASE DESCRIPTION: A patient presented with an intraparenchymal cyst and surrounding edema in the cerebellar hemisphere that developed after a C1 laminectomy and a small suboccipital craniectomy for the removal of an accessory nerve neurinoma at the craniovertebral junction. Fast imaging employing steady-state acquisition images identified the fistula connecting the cyst and extradural cerebrospinal fluid retention. Conservative management with administration of dexamethasone induced spontaneous regression of the cyst, and no recurrence had occurred by the 1-year follow-up. CONCLUSIONS: Watertight dural closure is important for the prevention of this rare complication after posterior fossa surgery. However, an arachnoid tear on the cerebellar fissure and adjacent dural defect are necessary antecedents for this rare condition. High-resolution fast imaging employing steady-state acquisition images could provide additional information for the etiology of postoperative cerebellar cyst.

Iatrogenic postoperative cerebellar cyst.

Cerebellar cyst is a known but uncommon entity. It is congenital in most cases, or may develop after brain parenchyma injuries or interventions. To our knowledge, de novo cerebellar cyst after extra-axial tumor excision, has not been described in the literature. We present the first reported case of a de novo cerebellar cyst developing in a 70-year-old woman following retrosigmoid craniotomy for vestibular schwannoma excision, and discuss the possible causes. Following cyst fenestration, there was no clinical or radiological evidence of a residual cyst.

Sudden death due to a cystic lesion in the cerebellum.

A middle-aged female patient with a depressive disorder presented to a mental hospital because of a 2-month worsening history of headache, dizziness, and nausea. The next morning, she was observed to be sleeping, but was then found dead 1h later. Postmortem computed tomography and autopsy revealed a large cyst in the right cerebellar hemisphere, hydrocephalus, and transforaminal herniation. Careful observation revealed an approximately 0.4cm×0.8cm slightly grayish discoloration in the cyst wall that was diagnosed as hemangioblastoma based on its histological features. Finally, we concluded that the cause of death in this case was attributable to the brain stem compression, which was caused by obstructive hydrocephalus secondary to the cystic hemangioblastoma in the cerebellum. The symptoms for 2 months before her death had most likely resulted from increased intracranial pressure. Hemangioblastomas usually appear as nodules in the wall of the cyst, but the tumor in our case looked like just a slightly grayish discoloration. Therefore, cystic lesions in the CNS need to be carefully examined.

Glial Cyst inside the Cerebellar Parenchyma: Case Report and Literature Review

Cystic lesions inside the brain parenchyma are a common pathological finding in the investigation of patients with suspicion of cerebral tumor. Histological diagnosis is important to guide the patient's treatment and follow-up, and to determine prognosis. Among patients diagnosed with cerebral cysts, most are located in the parenchyma above the tentorium. The authors describe the case of a patient who had been suffering from dizziness and balance disturbance for 4 months; the investigation identified a cyst inside the cerebellar right hemisphere. A surgical procedure was performed, and the biopsy microscopic analysis diagnosis was glial cyst.

Patologias intraparenquimatosas de características císticas são comumente identificadas em pacientes que estão sob investigação de neoplasias cranianas. Lesões císticas são mais prevalentes acima da tenda cerebelar, e o diagnóstico histológico é fundamental para determinar o tratamento, seguimento e prognóstico do paciente. Os autores relatam o caso de um paciente com sintomas de vertigem e alteração no equilíbrio dinämico de 4 meses de evolução, cuja investigação diagnosticou cisto intraparenquimatoso no hemisfério cerebelar direito. Procedeu-se com intervenção cirúrgica cujo diagnóstico histopatológico foi compatível com Cisto Glial