Outcome of intracerebral cavernoma treated by Gamma Knife radiosurgery based on a double-blind assessment of treatment indication.

BACKGROUND: The benefit and the risk profile of Gamma Knife radiosurgery (GKRS) for intracerebral cavernoma remains incompletely defined in part due to the natural history of low incidence of bleeding and spontaneous regression of this vascular malformation. In this study, we retrieved cases from a prospectively collected database to assess the outcome of intracerebral cavernoma treated with GKRS using a double blinded review process for treatment. METHODS: From 2003 to 2018, there were 94 cases of cavernoma treated by GKRS in the doubly blinded assessments by two experienced neurological and approved for GKRS treatment. All the patients received GKRS with margin dose of 11-12 (Gray) Gy and afterwards were assessed for neurological outcome, radiologic response, and quality of life. RESULTS: The median age of the patients was 48 (15-85) years with median follow up of 77 (26-180) months post SRS. The mean target volume was 1.93 ± 3.45 cc. In those who has pre-SRS epilepsy, 7 of 16 (43.7%) achieved seizure freedom (Engel I/II) and 9 of 16 (56.3%) achieved decreased seizures (Engel III) after SRS. Rebleeding occurred in 2 cases (2.1%) at 13 and 52 months post SRS. The radiologic assessment demonstrated 20 (21.3%) cases of decreased cavernoma volume, 69 (73.4%) were stable, and 5 (7.3%) increased size. Eighty-seven of 94 (92.5%) cases at the last follow up achieve improvement in their quality of life, but 7 cases (7.4%) showed a deterioration. In statistical analysis, the effective seizure control class (Engel I/II) was highly correlated with patient harboring a single lesion (p < 0.05) and deep seated location of the cavernoma (p < 0.01). New neurological deficits were highly correlated with decreased mental (p < 0.001) and physical (p < 0.05) components of quality of life testing, KPS (p < 0.001), deep seated location (p < 0.01), and increased nidus volume (p < 0.05). Quality of life deterioration either in physical component (p < 0.01), mental component (p < 0.01), and KPS (p < 0.05) was highly correlated with increased cavernoma volume. CONCLUSION: Low margin dose GKRS for intracerebral cavernoma offers reasonable seizure control and improved quality of life while conferring a low risk of treatment complications including adverse radiation effect.

Cerebral Cavernous Malformations: Patient-Reported Outcome Validates Conservative Management.

BACKGROUND: Cerebral cavernous malformations (CCM) are clusters of dilated sinusoidal channels lined by a single layer of endothelium. In contradistinction to arteriovenous malformations, these lesions do not have smooth muscle or elastin in their lining and they are angiographically occult, and the MRI is the most sensitive test for CCM detection. CCM are one of the most prevalent vascular malformations of the central nervous system, affecting about 0.4-0.6% of the general population. The main complication of this malformation is the risk of bleeding, which may cause neurological deficits that affect the quality of life (QoL) in patients. When symtomatic, they may be surgically treated for relieving the mass effect and seizures refractory to drug uses, hemorrhage and drug-refractory epilepsy. Patient-reported outcome (PRO) may be a strategy that can be used to evaluate QoL of CCM population and was used in a sample of non-operated patients. METHODS: An observational, cross-sectional analysis to evaluate the PRO using the SF-36 and EuroQol 5 dimensions (EQ-5D) questionnaires of QoL added to functional metrics using the Karnofsky Performance Status (KPS) in 49 patients not submitted to intervention and with long-term follow-up. RESULTS: During the 364 person-years of follow-up, there was an average of individual follow-up of 7.42 years. The mean age was 46.8 years (18-84) - 57% of them were female, 71% had superficial lesions, and 65% had the familial form. Comparisons of SF-36 dimensions with KPS graded <100 had a worse score only in terms of the pain (p = 0.04), vitality (p = 0.001), and general state of health (p = 0.03) domains. The domain mental health was worse in patients without surgical indication (p = 0.032). The functional capacity domain had the highest overall grading in the group. The EQ-5D dimensions of mobility (p = 0.03) and pain/discomfort (p = 0.001) were the ones with lower score compared to KPS <100. CONCLUSION: The study is the first to evaluate, with validated tools, the PRO of non-operated CCM patients and has demonstrated in a selected group of patients that it was possible to achieve long-term clinical stability, thereby maintaining QoL and functional neurological outcome.

Megalencephaly-capillary malformation polymicrogyria: A review and complex pediatric case report.

Megalencephaly-Capillary Malformation Polymicrogyria (M-CAP) is a rare genetic disorder characterized by a spectrum of anomalies including macrocephaly and neurovascular malformations. Although developmental delays have been identified, research is devoid of neuropsychological data. This case report presents the neuropsychological profile of a 7-year-old, identified with M-CAP. Neuropsychological evaluation was completed subsequent to medical diagnosis. Reports from both parents and teachers included cognitive regression; specifically in the recall of learned material, reading, and information sequencing. Direct testing revealed a WISC-IV GAI at <1st percentile, a diverse range of scores across the battery, and a splinter skill strength of average to above on visual memory tests. Performance included below grade level reading and writing, reduced adaptive functioning, and reported executive dysfunction. Her strong visual memory skills were recommended as a medium to enhance learning. Neurocognitive deficits revealed diverse, multisystem and multifocal impairments. The neuropsychological evaluation also showed significant decline from the previous evaluation and prompted a neurologic consult and corrective surgical procedure.

Obsessive compulsive disorder due to a cavernous malformation hemorrhage in the dominant caudate head.

Structural lesions of the basal ganglia may lead to obsessive compulsive disorder (OCD). We report a 31-year-old woman who developed OCD after a previously asymptomatic left caudate intracerebral cavernous malformation (ICM) hemorrhaged. Her neurologic examination was normal. Her OCD required hospitalization and improved with medication and therapy. The pathophysiology of this psychiatric disorder probably reflects a frontal cortex deafferentation mechanism. In patients with known ICM, any abrupt change in neurologic or psychiatric symptoms should prompt repeat imaging to assess for hemorrhage.

Ictal urge to defecate associated with a right-sided mesial temporal cavernoma.

A 69-year-old right-handed woman experienced, several times a day, a stereotyped feeling of warmth, rapidly followed by an urge to defecate. Magnetic resonance imaging revealed a right-sided mesial temporal cavernoma, and interictal electroencephalogram showed ipsilateral temporofrontal sharp waves. A brain lesion was absent in the only two earlier reported cases of an ictal urge to defecate. In our patient, the ictal urge to defecate seems to involve the non-dominant hemisphere and seems to probably be affecting the autonomic network.

Pain outcomes after surgery in patients with intramedullary spinal cord cavernous malformations.

OBJECT: The objective of the study was to quantify the improvement in pain levels for patients who have undergone surgery for intramedullary spinal cord cavernous malformations (SCCMs). METHODS: The author reviewed medical records of patients who underwent surgery for an intramedullary SCCM between 2003 and 2010. Numerical pain scores (range 0-10) were recorded preoperatively and at follow-up. The follow-up period exceeded 1 year. Neurological status and subjective outcomes were assessed. Each patient underwent follow-up MR imaging. RESULTS: Five patients were identified with SCCMs who underwent surgery: 4 with thoracic and 1 with cervical lesions. Patients had been conservatively managed for an average of 5 years prior to surgery, and none had a history of acute hemorrhage or neurological deterioration during the observation period. The primary indication for surgery in each patient was pain, although 4 of 5 patients had some evidence of myelopathy on examination. Pain improved from a mean preoperative score of 8.6 to mean score of 2.0 (p < 0.01) at 1 month. Pain scores then increased to 3.7 (p < 0.01) at 1 year. All patients had some improvement in pain. No new motor weakness was noted, but all patients had increased symptoms of posterior-column dysfunction and numbness after surgery. CONCLUSIONS: Spinal cord intramedullary cavernous malformations are increasingly being diagnosed early with patients presenting with mostly pain symptoms. Removal of the lesion is reliably associated with improvement in pain scores but often the pain improvement is transient. While long-term worsening of pain scores occurs, at 1-year follow-up, patients reported pain scores were improved over preoperative scores. In all patients some degree of postoperative posterior-column dysfunction was present. Some of the immediate pain relief may be due to analgesia related to the myelotomy of newly described posterior column pain pathways. In patients with severe pain, surgery to remove SCCMs reduced the overall pain level at 1 year.

Cognitive dysfunction after isolated brain stem insult. An underdiagnosed cause of long term morbidity.

Cognitive dysfunction adversely influences long term outcome after cerebral insult, but the potential for brain stem lesions to produce cognitive as well as physical impairments is not widely recognised. This report describes a series of seven consecutive patients referred to a neurological rehabilitation unit with lesions limited to brain stem structures, all of whom were shown to exhibit deficits in at least one domain of cognition. The practical importance of recognising cognitive dysfunction in this group of patients, and the theoretical significance of the disruption of specific cognitive domains by lesions to distributed neural circuits, are discussed.