The main purpose of this article is to assess the safety and efficacy of transforaminal lumbar puncture for the injection of nusinersen (Spinraza) in patients with extensive spinal fusion and/or scoliosis.A retrospective chart reviews of all spinal muscular atrophy patients (adults and children) were conducted. Demographic data, procedure details, follow-ups, and related complications were recorded.We performed 85 transforaminal injections in nine pediatric patients (5 male and 4 female) aged between 8 and 17 years (mean = 11 years) and seven adult patients (5 females and 2 males) aged between 24 and 41 years (mean= 30 years). Fluoroscopy guidance was used in 87% of our patients. No major complication was reported.Fluoroscopy-guided transforaminal nusinersen injection is a safe and successful alternative approach in adult and pediatric patients with severe spinal scoliosis, interlaminar osseous fusion, and spinal fusion hardware.
Despite current efforts, more comprehensive studies are needed, especially for classification and investigation of the genetic background and prognostic factors for patients with CVID in order to better managment and followup of patinets.
Diffuse villous hyperplasia of the choroid plexus (DVHCP) is a rare cause of communicating hydrocephalus. DVHCP may be diagnosed radiographically and through histological evaluation. It may be associated with genetic abnormalities, particularly involving chromosome 9. Due to CSF overproduction, patients with DVHCP often fail management with shunting alone and may require adjuvant interventions. The authors present the case of a child with partial trisomy 9p and delayed diagnosis of hydrocephalus with radiographic evidence of DVHCP who was successfully managed with ventriculoperitoneal shunt (VPS) placement, adjuvant bilateral endoscopic choroid plexus coagulation (CPC), and the novel application of anterior choroidal artery embolization. In addition, a systematic MEDLINE search was conducted using the keywords “diffuse villous hyperplasia,” “choroid plexus hypertrophy,” and “idiopathic cerebrospinal fluid overproduction.” Clinicopathological characteristics and outcomes of the present case were reviewed and compared to those in the literature.A 14-month-old girl with partial trisomy 9p presented with macrocephaly and radiographic evidence of communicating hydrocephalus and DVHCP. Ventriculoperitoneal shunting resulted in distal failure due to inadequate CSF absorption, and ventriculoatrial shunt (VAS) placement was not possible due to multiple cardiac anomalies. Daily CSF production was reduced via endoscopic third ventriculostomy and bilateral CPC, followed by distal choroidal artery embolization, enabling VPS re-internalization. The embolization was complicated by radiographic evidence of an iatrogenic cerebral infarct, but this was clinically occult. Thirty-two additional cases of communicating hydrocephalus due to DVHCP are reported in the literature: 27 pediatric, 3 adult, and 2 postmortem. Genetic abnormalities were noted in 14, with 7 (50%) involving chromosome 9. Twelve patients underwent plexectomy (9 bilateral, 2 unilateral, 1 partial), and 10 underwent CPC (4 bilateral, 3 unilateral, and 3 unspecified), with or without shunting. Eight patients were successfully managed with shunting alone (6 VASs, 2 VPSs), and none underwent arterial embolization.DVHCP is a rare cause of communicating hydrocephalus that may be associated with genetic abnormalities. A thorough review of the literature highlights diagnostic criteria and interventional options involved in managing this cause of CSF overproduction. The present case demonstrates that angiographic confirmation of prominent choroidal arteries may contribute to the diagnosis DVHCP. In addition, embolization of the distal choroidal arteries may be considered as a potential adjuvant treatment in patients for whom conventional treatments have failed or are not feasible.
Intraosseous cranial arteriovenous malformations (AVMs) are very rare, challenging entities. The authors report the case of an extracranial parietooccipital vascular lesion. A 12-year-old boy presented with accelerated growth of a right scalp lesion over a few months. Digital subtraction angiography showed a large, right parietooccipital intraosseous AVM with multiple complex arterial feeders. Treatment of these lesions is difficult and can necessitate a multidisciplinary approach. In the featured case, 6 embolization procedures were performed over 1 year, including both transarterial and transvenous approaches, followed by total resection. The authors describe what is thought to be the second case of an AVM originating in the cranial bones and the first case with successful multidisciplinary management.
OBJECTIVEThe aim of this paper was assess the efficacy and safety of using the MynxGrip arterial closure device in pediatric neuroendovascular procedures where the use of closure devices remains off-label despite their validation and widespread use in adults.METHODSA retrospective review of all pediatric patients who underwent diagnostic or interventional neuroendovascular procedures at the authors’ institution was performed. MynxGrip use was predicated by an adequate depth of subcutaneous tissue and common femoral artery (CFA) diameter. Patients remained on supine bedrest for 2 hours after diagnostic procedures and for 3 hours after therapeutic procedures. Patient demographics, procedural details, hemostasis status, and complications were recorded.RESULTSOver 36 months, 83 MynxGrip devices were deployed in 53 patients (23 male and 30 female patients; mean age 14 years) who underwent neuroendovascular procedures. The right-side CFA was the main point of access for most procedures. The mean CFA diameter was 6.24 mm and ranged from 4 mm to 8.5 mm. Diagnostic angiography comprised 46% of the procedures. A single device failure occurred without any sequelae; the device was extracted, and hemostasis was achieved by manual compression with the placement of a Safeguard compression device. No other immediate or delayed major complications were recorded.CONCLUSIONSMynxGrip can be used safely in the pediatric population for effective hemostasis and has the advantage of earlier mobilization.
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