A Case of Widespread Cavernous Malformations of the Central Nervous System Associated with Acute Neurologic Deficit

A 45-year-old female visited our clinic due to sudden right leg weakness and sensory loss. Brain and spinal cord magnetic resonance imaging showed widespread cavernous malformations. Cavernous malformation in L1 spine area was accompanied by a subacute stage hematoma with perilesional edema. Sensory loss subsided after corticosteroid therapy. Usually, neurologic deficit by spinal cavernous malformation appears more chronically in the adults compared to children. Treatment options are difficult to establish in a case with multiple cavernous malformations. Identifying hemorrhagic lesions by extensive neuroimaging evaluation could be helpful to select the treatment target for cavernous malformation.

Nuestra experiencia en el manejo de los cavernomas de tronco, de tálamo y de ganglios basales / Our experience in the management of trunk, thalamus and basal ganglia cavernomas

OBJETIVO: Presentar nuestra experiencia en el manejo de los cavernomas de tronco cerebral, de tálamo y de ganglios basales. MATERIAL Y MÉTODO: Analizamos una serie de 16 pacientes asistidos en nuestra Institución, entre enero de 1990 y diciembre del año 2013. De ellos, 9 fueron varones y 7 mujeres. El rango de edad osciló entre 3 y 61 años. RESULTADOS: Siete debutaron con hemorragia cerebral, de ellos 4 se localizaban en protuberancia y 3 en el bulbo raquídeo. Siete pacientes tuvieron cavernomas múltiples, de ellos 3 tenían familiares con la misma enfermedad. El procedimiento diagnóstico de elección fue la resonancia nuclear magnética de cerebro en todos, y en los pacientes con cavernomas múltiples se completó el estudio con resonancia nuclear magnética de médula espinal. El tratamiento fue conservador en 9 enfermos, quirúrgico en 6 y radiocirugía estereotáctica en 1 enfermo; a éste paciente hubo necesidad de operarlo 6 meses después del tratamiento radiante por un resangrado voluminoso en la protuberancia. DISCUSIÓN: La cirugía es exitosa cuando el cavernoma se ubica a 2 mm de la piamadre, o del epéndimo. La radiocirugía puede ser causante de resangrado y de mayor volumen que las hemorragias previas. Por último, el tratamiento conservador sigue teniendo vigencia en los pacientes que se recuperaron neurológicamente y cuando se ubican en la profundidad del tronco cerebral, tálamo óptico o ganglios basales. CONCLUSIÓN: Cada paciente debe evaluarse individualmente para decidir el tipo de tratamiento, teniendo en cuenta la edad, la recuperación de los signos neurológicos, el volumen y la localización precisa del cavernoma

Objective: To present our experience in the management of brainstem, thalamus and basal ganglia cavernous malformations. Material and Method: We analyzed a series of 16 patients admitted to our Institution between January 1990 and December 2013. Nine of them were male and 7 female. Age ranged between 3 and 61. Results: Seven patients presented brainstem hemorrhage, 4 being pontine and the remaining 3 were medullary. Seven patients had multiple cavernomas, and 3 of them had a family background with the disease. The chosen diagnostic procedure was brain MRI in all patients; in patients with multiple cavernomas spine MRI was also requested. Nine patients received conservative treatment, 6 patients underwent surgery and one was treated with stereotactic radiosurgery but had to be operated on six months after radiation treatment due to voluminous re-bleeding at protuberance. Discussion: Surgery is successful when the cavernous malformation is placed 2 mm away from pia mater or ependyma. Radiosurgery can cause re-bleeding and of a greater volume than previous hemorrhages. Finally, conservative treatment is useful in patients who get neurologically recovered and when malformations are placed deep in brainstem, optic thalamus or basal ganglia. Conclusion: Each patient has to be individually assessed to individually assessed to make a decision regarding the type of treatment, taking into account age, recovery of neurological signs, volume, and precise location of cavernous malformation

Brainstem cavernous malformations: a review with two case reports / Malformações cavernosas do tronco cerebral: uma revisão com relato de dois casos

Central nervous system (CNS) cavernous malformations (CMs) are developmental malformations of the vascular bed with a highly variable clinical course due to their dynamic nature. We present one case of "de novo" brainstem cavernous malformation after radiation therapy adding to the increasing number of reported cases in the medical literature, and the case of a pregnant patient with symptomatic intracranial hemorrhage related to brainstem CMs to illustrate the complex nature in management of these patients, followed by a review of clinical and radiographic characteristics. CMs account for 8-15 percent of all intracranial and intraspinal vascular malformations. Although traditionally thought to be congenital in origin, CMs may present as acquired lesions particularly after intracranial radiation therapy. Clinical manifestations are protean and surgical treatment should be considered for patients with progressive neurologic deficits.

Malformações cavernosas (MFC) do sistema nervoso central são malformações do desenvolvimento do leito vascular com múltiplas apresentações clínicas devido a sua natureza dinâmica. Apresentamos dois casos de malformações cavernosas do tronco cerebral: o primeiro após radioterapia e o segundo em paciente grávida com hemorragia intracraniana sintomática. MFC são responsáveis por cerca de 8-15 por cento de todas as malformações vasculares. Embora tradicionalmente sejam genéticas, as MFC podem também ser adquiridas, particularmente após radioterapia. As manifestações clínicas são variáveis e o tratamento cirúrgico deve ser considerado para pacientes com quadros neurológicos progressivos.

Programmed Cell Death 10,Beyond an Apoptosis-related Molecule / 生物化学与生物物理进展

Homo sapiens PDCD10(programmed cell death 10,alias,"TF-1 cell apoptosis related gene 15,TFAR15"),cloned by means of cDNA-representational differences analysis,had been initially identified associated with cell apoptosis.Recent research suggested mutations within the PDCD10 gene or deletion were responsible for cerebral cavernous malformations,and PDCD10 was the third CCM gene.On the other hand,other research demonstrated that PDCD10 was strictly modulated and up regulated in many kinds of tumors,which implicated that PDCD10 participated in tumorous signal transduction.The recent research confirmed that PDCD10 interacts with MST4,a member of Ste20-related kinases,and the interaction promoted cell proliferation and transformation via modulation of the ERK-MARK pathway.In conclusion,all these demonstrate that PDCD10 has many biological effects,which suggests that it is a novel player in vascular morphogenesis and/or remodeling,as well as tumorigenesis and cancer progression.

Epidemiology and Natural History of Cavernous Malformations / 대한뇌혈관학회지

Cavernous malformations are well demarcated mulberry-like lesions composed of thin-walled sinusoidal channels. Thanks to introduction of magnetic resonance imaging (MRI), vascular malformations are being diagnosed with increasing frequency. Cavernous malformations constitute about 10% of all cerebrovascular malformations and are present in about 0.5% of the population. There is no sex predominance, with the highest incidence occuring in fourth decade. The most common symptom is seizure, followed by focal neurological deficits, headache and hemorrhage. The annualized bleeding rate is 0.7%, with the significantly greater risk of overt hemorrhage in females. The lesion is asymptomatic in about 16% of patients. Cavernous malformations usually are sporadic but multiple lesions are common in the familial form (50% to 73%). Symptom presentation is strongly related to the size of lesion greater than 1 cm in diameter.

Surgical Treatment of Cavernous Malformation / 대한뇌혈관학회지

Although it's been about 100 years since the vascular malformation was first discovered, it is very recent situation that the natural history of cavernous malformations is being clarified. Once it was considered to be very rare, but the introduction of MRI made it possible to diagnose more asymptomatic patients than ever. With this sophiscated tool, it become easy to diagnose and follow up this vascular disease. As more and more asymptomatic or minimally symptomatic patient are being discovered, it become very difficult part for a neurosurgical surgeon to choose the method of treatment in each clinical case. A great deal of recent controversy has been generated concerning the best surgical approach to treat benign lesions that are associated with epilepsy. Since the definition of the bleeding and the clinically significant symptom are different from author to author, one should be careful to recognize the statistical numbers of the from articles. We reviewed dozens of articles to figure out the right indication, approach and microsurgical technique. The surgical risk should be carefully weighed against the morbidity from the natural history of the disease.

Management of Intracranial Cavernous Malformations / 대한뇌혈관학회지

Cavernous malformation(CM) is one of the most common intracranial vascular anomaly. CM have dynamic lesion behavior and various clinical spectrum. Hemorrhagic risk and neurological disability seem to be related to multiple factors, including lesion location, age, gender, state of the reproductive cycle, and previous hemorrhage. Selecting the best treatment modality, each clinical scenario requires the proposal of a distinct management approach aimed at weighing the treatment risk against the best estimate of the cumulative natural risk. Management strategies include expectant follow-up in patients with asymptomatic or inaccessible lesions and microsurgical excision of symptomatic and accessible lesions. Radiosurgery could be applied for the progressively symptomatic lesions in inoperable locations, but the mortality and morbidity due to recurrent hemorrhage during latency period and radiation injury should be concerned.