Pediatric intracranial aneurysms in a Southern Brazilian population.

INTRODUCTION: Intracranial aneurysms are rare in the pediatric population, and their diagnosis can be challenging. They differ from their adult counterparts in several aspects, and hemorrhage is the most common presentation. OBJECTIVE: To evaluate clinical data, aneurysm characteristics, and therapeutic results in a series of patients younger than 19 years of age with intracranial aneurysms. METHOD: A retrospective cross-sectional observational study design analyzed medical records and imaging studies. Variables included age, sex, clinical presentation, comorbidities, aneurysmal characteristics, treatment modality, and clinical outcomes. RESULTS: We identified 15 intracranial aneurysms in 11 patients (6 male), with ages ranging from 3 months to 15 years (mean age 5.2 years). Five patients had associated medical conditions, and hemorrhage was the most frequent clinical presentation (45%). Three patients (27%) had multiple aneurysms, and seven aneurysms were fusiform or dysplastic. The internal carotid artery was the most affected site, involved in 47% of cases. Aneurysm size ranged from 2 to 60 mm (mean 16.8 mm), with giant aneurysms in 27%. Seven patients were treated with endovascular procedures, while three aneurysms were clipped. Symptomatic vasospasm requiring angioplasty occurred in two patients and led to worse outcomes. One patient died due to severe aspiration pneumonia and sepsis that precluded treatment. Good functional outcome (modified Rankin scale - mRS ≤ 2) was achieved in all treated patients (91%). CONCLUSION: The patients with aneurysms in this series were mostly male, presented mostly hemorrhagic syndromes, and mainly had internal carotid artery involvement. The outcome of treated patients was favorable, regardless of treatment modality.

Moyamoya Angiopathy and 15q11.2 Gene Deletion Syndrome.

Although the moyamoya angiopathy has already been associated with several genetic and chromosomal alterations, its physiopathologic mechanisms are not completely understood. We report a case of a 7-year-old male with epilepsy, autism spectrum disorder, and delayed psychomotor development whose genetic investigation showed a deletion of the 15q11.2 gene. He presented with sudden neurologic deficits and neuroimaging studies showed cerebral infarctions, bilateral hypoperfusion, and intracranial carotid artery stenosis. Medical treatment with anticonvulsants and antiplatelets was followed by bilateral cerebral revascularization surgery (encephaloduroarteriosynangiosis). There were no seizures nor ischemic events during the follow-up period. The 15q11.2 gene deletion is a rare mutation related to epilepsy, neurodevelopmental disorders, and malformations. Therefore it is noteworthy that the deletion may also be related to other delayed brain diseases still unknown. To our knowledge, this is the first report of moyamoya syndrome with concurrent 15q11.2 gene deletion.

Angiopathy and Stroke Associated with Homocystinuria in Childhood.

A previously healthy 13 year-old boy presented with acute-onset headaches, aphasia and right-sided hemiparesis. Imaging showed cerebral ischemic infarction due to bilateral carotid occlusion, and investigation for stroke etiology diagnosed homocystinuria. Homocystinuria is an autosomal recessive condition that affects the metabolism of the amino acid methionine due to an enzyme deficiency. This disorder involves multiple organs systems, and complications include thromboembolic events, ectopia lentis, mental retardation, and skeletal abnormalities. The early diagnosis and treatment of hyperhomocystinemia can significantly improve outcomes. Therefore, metabolic screening for homocystinuria is strongly recommended for children presenting with stroke.

Cervical Disorders in Mucopolysaccharidosis IVA-Morquio disease.

Morquio disease or mucopolysaccharidosis type IVA (Online Mendelian Inheritance in Man No. 253000) is a rare autosomal recessive disease classified in the group of metabolism inborn errors. The glycosaminoglycans accumulate in chondrocytes, which disturbs bone growth and leads to skeletal manifestations, such as skeletal dysplasia and a short stature. In addition, the disproportionate growth of the trachea can lead to airway insufficiency. We report the case of a 27-year-old man with dwarfism due to Morquio disease, which had resulted in quadriparesis, hyperreflexia, and dyspnea, requiring a "look up to the sky" compensatory position. Imaging studies of the neck showed tracheal tortuosity, spinal stenosis, myelopathy, and neurogenic arthropathy (Charcot joint). The patient was treated with occipital-cervical-thoracic instrumentation. However, postoperative tracheal correction was required. Considering the wide spectrum of clinical features in those with mucopolysaccharidosis type IVA, individualized multidisciplinary treatment is recommended.

The importance of staged surgery for giant atypical central neurocytoma.

The aim of this article is to discuss the importance of staged surgeries when approaching atypical central neurocytoma in children. Also, we show the preoperative embolization of the lesion as a maneuver to reduce the intraoperative bleeding. Central neurocytomas represent less than 0.5% of all intracranial tumors, and atypical central neurocytomas usually have unfavorable outcome, with high recurrence rate. The intraventricular location is frequent, with a predilection for the lateral ventricles. When completely resected, these lesions have a good prognosis. We report a case of a 12-year old male patient that presented with a history of headache for about 6 months, which worsened for 1 week prior to admission. Magnetic resonance imaging (MRI) brain showed a massive lesion occupying both lateral ventricles. He underwent a microsurgical treatment of a highly vascularized lesion, but the perioperative bleeding required interruption of the surgery. Thus, a preoperative embolization was able to occlude most arterial feeders and allowed subtotal resection in a second surgery. The patient had complete neurological recovery despite immediate post-operative deficits, and the histopathology was suggestive of atypical neurocytoma. Two-stage surgery with preoperative adjuvant embolization is a feasible strategy for treatment of large central neurocytomas in children.

Carotid-Esophageal Fistula Treated By Endovascular Approach.

The carotid-esophageal fistula is a rare and serious complication of the metallic esophageal prosthesis. A high index of suspicion is required for early diagnosis and treatment, decreasing the morbidity and mortality rate of this severe complication. We report a case of a 4-year-old boy presenting severe upper gastrointestinal bleeding due to a carotid-esophageal fistula, secondary to deployment of an esophageal metallic prosthesis for treatment of a recurrent stenosis. The carotid pseudo-aneurism was successfully treated with stents and coils. Although endovascular treatment is a safe and effective option, arterial stenting in children needs further studies with long-term follow-up.

Pediatric Cervical Aneurysmal Bone Cyst Treated by Endovascular Approach.

INTRODUCTION: Aneurysmal bone cyst (ABC) is a rare, benign, and expansible bone lesion, occurring mainly in childhood. Although most lesions are located at the metaphysis of long bones, they can also be found in flat bones and spine. CASE PRESENTATION: We report a case of a 16-year-old boy with cervical ABC treated by endovascular embolization. The afferents were occluded as a preoperative preparation for surgery; however, as the patient became asymptomatic after the procedure, the family refused surgery. Image at 1-year follow-up showed reduction and ossification of the lesion. CONCLUSION: Endovascular treatment decreases surgical morbidity by reducing blood loss, which is particularly important in the pediatric population. This therapeutic option may also halt ABC growth in selected cases.

Complications of Endovascular Treatment in Fibromuscular Dysplasia.

BACKGROUND: Fibromuscular dysplasia affects generally renal artery, causing renovascular hypertension. The most classical angiographic pattern, string-of-beads, can be found in cervical and more rarely in other arteries. With the advance of endovascular procedures techniques, the number of open surgeries is decreasing, and complications related to the selective catheterization of diseased vessels are increasing. CASE REPORT: A 37-year-old man presenting with subarachnoid hemorrhage was submitted to angioplasty for dissecting aneurysms of vertebral artery with a good outcome. Several arteries were angiographically diagnosed with the dysplasia (renal, carotid, femoral), and some complications like stenosis, dissection, arteriovenous fistula, and dissecting aneurysm occurred in sequence. CONCLUSIONS: FMD of cervical arteries is usually asymptomatic. There are no guidelines or protocols to cervical FMD treatment, being indicated only for the complications. Because of the vessels fragility, a several spontaneous or post endovascular procedure complications can be disastrous.

Cerebellar mutism after embolization of vermian arteriovenous malformation.

BACKGROUND: Cerebellar mutism is usually associated with posterior fossa tumor surgery. CASE REPORT: We report a case of a 17-year-old female, presented with headache and tremor after hemorrhage from a vermian arteriovenous malformation. She was successfully treated by embolization; however, on immediate postoperative, she developed persistent mutism. To the best authors' knowledge, this is the first case of cerebellar mutism after endovascular treatment reported in the medical literature. CONCLUSION: The endovascular approach may have the same potential of complication of conventional surgery; therefore, more study is necessary to clarify the role and limits of this technique to treat cerebellar arteriovenous malformation.

Ondine's curse: myth meets reality.

Ondine's curse is one of the most enchanting mythical tales in the field of Medicine. The nymph Ondine was an immortal water spirit who became human after falling in love for a man, marrying him, and having a baby. In one of the versions of the tale, when she caught her husband sleeping with another woman, she cursed him to remain awake in order to control his own breathing. During the 19th century, the rare syndrome characterized by loss of autonomic breath control, while voluntary respiration remains intact, was cleverly named "Ondine's curse". Nowadays, the term Ondine's curse is usually associated with congenital central hypoventilation syndrome; however, in medical literature, it also designates several respiratory disorders. Here, we present a review of the myth focused on history, arts and medicine.

Atypical Presentation of PHACE Syndrome: Hidden Facial Hemangioma.

PHACE(S) syndrome is a neurocutaneous syndrome with a wide array of presentations. The most known and present trait is facial hemangioma > 5 cm. The name is an acronym for Posterior fossa malformations, infantile Hemangiomas, Arterial anomalies, aortic Coarctation, Eye abnormalities, and middle-line malformations of the Sternum. The exact etiopathogenic mechanism of this syndrome is not fully understood, and its treatment depends on detailed and individualized assessment. The aim of this paper is to describe a child with a throat hemangioma, vascular malformations, cognitive delay, and other anomalies to illustrate the neuroimaging found in this syndrome.

Is the Mayfield Head Holder Obligatory for Intracranial Aneurysm Clipping?

Intracranial aneurysm surgery is commonly performed using pinned head holders, which pose a higher risk for the pediatric population. Several authors recommend avoiding the use of this device when it is not strictly necessary, and this is currently possible considering advances in anesthesiology and monitoring. As the literature on microsurgery without skull clamp use is scant, we report the case of a 15-year-old boy presenting with a subarachnoid hemorrhage after rupture of a middle cerebral artery aneurysm. Surgical treatment was performed with the head resting on a gel cushion horseshoe; aneurysm clipping was achieved without wakefulness or awareness and the patient had a good recovery.

Single-session percutaneous embolization with onyx and coils of sinus pericranii.

BACKGROUND: Sinus pericranii (SP) is a rare vascular malformation consisting of an abnormal communication between the extra- and the intracranial venous system. It occurs due to the adhesion of vessels without a muscular layer or a hemangioma on the outer surface of the skull through diploic vessels, communicating with an intracranial venous sinus. CASE DESCRIPTION: A 10-month-old female presented with a pulsatile mass on the posterior parietal region. Investigation with brain vascular examinations showed a venous malformation communicating with the superior sagittal sinus under the scalp, without arterial feeder or nidus. An endovascular embolization with coils and a percutaneous embolization with Onyx ® were performed. The final venography showed complete exclusion of the lesion, which was gradually being absorbed. CONCLUSION: This is the first case of an SP successfully treated in a single session by embolization with coils and onyx.

The role of vagus nerve stimulation in refractory epilepsy.

Vagus nerve stimulation is an adjunctive therapy used to treat patients with refractory epilepsy who are not candidates for resective surgery or had poor results after surgical procedures. Its mechanism of action is not yet fully comprehended but it possibly involves modulation of the locus coeruleus, thalamus and limbic circuit through noradrenergic and serotonergic projections. There is sufficient evidence to support its use in patients with focal epilepsy and other seizure types. However, it should be recognized that improvement is not immediate and increases over time. The majority of adverse events is stimulation-related, temporary and decreases after adjustment of settings. Future perspectives to improve efficacy and reduce side effects, such as different approaches to increase battery life, transcutaneous stimulation and identification of prognostic factors, should be further investigated.