Whole exome sequencing identifies risk variants associated with intracranial epidermoid cyst deterioration:A case report

BACKGROUND Intracranial epidermoid cyst(IEC)transformation to malignant squamous cell carcinoma(SCC)is extremely rare,and its etiology is yet unknown.Currently,SCC is treated by performing surgery,followed by a combination of radiotherapy and chemotherapy.It is crucial to identify efficient and trustworthy therapeutic targets for SCC to improve its diagnosis,prognosis,and treatment.CASE SUMMARY In this study,we report the case of a 47-year-old female patient with SCC,which progressed from IEC in the left internal capsule region.The patient was sought treatment at our hospital for severe diplopic vision,accompanied with speech disorder and memory loss.Based on the clinical and postoperative pathology,this patient was finally diagnosed with SCC.To identify disease-causing variants,whole exome sequencing(WES)was performed on the proband.WES revealed two pathogenic missense mutations on Gap junction protein beta 2(GJB2)(c.257C>T)and Toll-like receptor 2(TLR2)(c.1039A>G),respectively.CONCLUSION This study provided the first clinical evidence for demonstrating the role of GJB2 and TLR2 in IEC development and treatment.We further confirmed WES as a robust and reliable technique for underlying rare and complex disease-related genetic factor identification.

Asymptomatic traumatic rupture of an intracranial dermoid cyst:A case report

BACKGROUND Previous studies reported that most of the intracranial dermoid cyst ruptures were spontaneous,and only a few were traumatic,with asymptomatic much rarer than the symptomatic ruptures.Hence,how to deal with the asymptomatic traumatic rupture of intracranial dermoid cyst remains a challenge in the clinic.CASE SUMMARY A 59-year-old man was accidentally diagnosed with intracranial dermoid cyst through a cranial computed tomography(CT)scan due to a car accident.A mixed-density lesion with fat and a calcified margin was observed in the midline of the posterior fossa,accompanied with lipid droplet drifts in brain sulci,fissures,cisterns,and ventricles.After 1 wk of conservative observation,no change was observed on the updated cranial CT scan.After 2 wk of conservative observation,magnetic resonance imaging examination confirmed that the lesion was a traumatic rupture of a posterior fossa dermoid cyst with lipid droplet drifts.As the patient exhibited no adverse symptoms throughout the 2 wk,a 6-mo follow-up visit was arranged for him instead of aggressive treatment.Nonetheless,the patient did not show any abnormal neurological symptoms in the 6 mo of follow-up visits.CONCLUSION Asymptomatic traumatic rupture of intracranial dermoid cyst could be just followed or treated conservatively rather than treated aggressively.

Treatment strategy of intracranial arachnoid cysts

Objective To investigate treatment strategy of intracranial arachnoid cysts. Methods 47 cases of Intracranial arachnoid cysts from Sep 1,2010 to Des 1,2010 were analyzed. 25 cases received no intervention but follow . 22 cases received operation,13 of 22 cases neuroendoscopic partial cystectomy and communication between cystic cavity and brain cistern; 7 of 22 cases cysts peritoneal shunt, 2 of 22

The neurosurgical treatment of intracranial arachnoid cysts in child

Objective Arachnoid cysts are non-arachnoid fluid collections that accout for about 1% of all intracranial space-occupying lessions. So far,the optimal method of treatment for symptomatic arachnoid cysts remains controversial. In this article,we want to find an ideal technique

Clinical analysis of four cases of intracranial choroid plexus cysts

Objective To summarize and report the diagnosis and management of choroid plexus cysts. Methods The clinical data of 4 choroid plexus cysts cases from March 2005 and 2010 March were analyzed retrospectively,and pathology appearances,surgical treatment were evaluated. Results Intracranial cystic lesion

Intraparenchymal hemorrhage after surgical decompression of an epencephalon arachnoid cyst: A case report

BACKGROUND This study reports the clinical presentation of intraparenchymal hemorrhage as a rare complication after surgical decompression of an intracranial epencephalon arachnoid cyst(IEAC)at the posterior cranial fossa.CASE SUMMARY The clinical information of a patient with an IEAC was reported,and the related literature was reviewed.A female patient with nausea presented to our hospital.Computed tomography demonstrated an IEAC located at the posterior cranial fossa,which was large and required surgical intervention.After operation,postoperative intraparenchymal hemorrhage was detected.She had a good recovery with conservative treatment 1 mo later.CONCLUSION Though postoperative intraparenchymal hemorrhage is rare after surgical decompression of an IEAC,more attention should be paid to such a complication.

Neuroendoscopy in Epilepsy Surgery

Epilepsy surgery has constantly evolved in various fields of knowledge. Surgical criteria have shifted from standard procedures to individualized forms of treatment, depending on physiological tests and specific imagenology findings in an individual patient. New instruments and applications based upon older instruments have been described in the treatment of epilepsy surgery, including the use of endoscopes. Frequent indications of neuroendoscopy in epilepsy surgery have been mostly to assist in open procedures, particularly when fluid-filled spaces are present within the surgical field, such as cystic parasites, tumors, arachnoid, or other types of cysts. Other indications certainly include cases of temporal lobe epilepsy, where ventricular exploration precedes intraventricular electrode placing as a tool to localize epileptogenic zones. Although described several years ago, there has been a recent trend in performing endoscopy-assisted section of the corpus-callosum in patients with generalized seizures. As neurosurgical instruments and techniques continue their progress, endoscopy will be included more frequently as part of the armamentarium in epilepsy surgery.

Treatment of intracranial hydatid cysts

Background Echinococcosis is still endemic in many countries, including China, where it is especially prevalent in the northwest. The aim of this study was to enrich the international literature about the treatment of intracranial hydatid cysts. Methods We retrospectively reviewed the clinical features, radiological manifestations, and surgical outcome of 97 patients with intracranial hydatid cysts, who received surgical treatment at the Neurosurgical Department of First Affiliated Hospital of Xinjiang Medical University from 1985 to 2010 and followed up the patient via sending a questionnaire or telephone contact. Clinical outcome was evaluated using the Karnofsky Performance Scale Index. Results Headache and vomiting were the most common initial symptoms in our patients. Neurological deficits caused by the mass effect of the cysts were seen in 82 cases. On the X-ray, significant bone erosion was seen in only two cases with epidural hydatid cysts. Round-shaped and thin-walled homogeneous low-density cystic lesions without surrounding edema and enhancement were the main findings on computerized tomography （CT） in g5 patients with intraparenchymal hydatid cysts, whi}e two cases with epidural hydatid cysts presented as a heterodensity lesions. On magnetic resonance imaging （MR0, hydatid cyst presented as a round-shaped low signal lesion in Tl-weighted images and high signal lesion in T2-weighted images, without enhancement after contrast media injection, while the two cases with epidural cysts presented as mixed signal masses. Surgical removal of cyst was performed in all cases. Total removal was achieved in 93 cases without rupturing the cyst wall. Only two cysts ruptured during the dissection, resulting in two surgery-related mortalities. There was no other additional neurological deficit caused directly by surgery. In 97.2% of the patients, the Karnofsky Performance Scale score was 80 to 90 at the last follow-up. Conclusions Intracranial hydatid cyst is still a main cause of increased intracranial pressure among the patients in endemic areas for echinococcosis. CT and MRI are the best diagnostic methods and surgery is the treatment of choice for intracranial hydatid cysts.