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Sebastian Rubino, Jiang Qian, Carlos D. Pinheiro-Neto, Tyler J. Kenning and Matthew A. Adamo

Hypothalamic hamartomas are benign tumors known to cause gelastic or dacrystic seizures, precocious puberty, developmental delay, and medically refractory epilepsy. These tumors are most often sporadic but rarely can be associated with Pallister-Hall syndrome, an autosomal dominant familial syndrome caused by truncation of glioblastoma transcription factor 3, a downstream effector in the sonic hedgehog pathway. In this clinical report, the authors describe two brothers with a different familial syndrome. To the best of the authors’ knowledge, this is the first report in the literature describing a familial syndrome caused by germline mutations in the Smoothened (SMO) gene and the first familial syndrome associated with hypothalamic hamartomas other than Pallister-Hall syndrome. The authors discuss the endoscopic endonasal biopsy and subtotal resection of a large hypothalamic hamartoma in one of the patients as well as the histopathological findings encountered. Integral to this discussion is the understanding of the hedgehog pathway; therefore, the underpinnings of this pathway and its clinical associations to date are also reviewed.

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Alessandro Paluzzi, Paul Gardner, Juan C. Fernandez-Miranda, Carlos D. Pinheiro-Neto, Tiago Fernando Scopel, Maria Koutourousiou and Carl H. Snyderman

Object

The aim of this study was to report the results in a consecutive series of patients who had undergone an endoscopic endonasal approach (EEA) for drainage of a petrous apex cholesterol granuloma (CG).

Methods

Seventeen cases with a confirmed diagnosis of petrous apex CG were identified from a database of more than 1600 patients who had undergone an EEA to skull base lesions at the authors' institution in the period from 1998 to 2011. Clinical outcomes were reviewed and compared with those in previous studies of open approaches.

Results

Nine patients underwent a transclival approach and 8 patients underwent a combined transclival and infrapetrous approach. A Silastic stent was used in 11 patients (65%), a miniflap in 4 (24%), and a simple marsupialization of the cyst in 3 (18%). All symptomatic patients had partial or complete improvement of their symptoms postoperatively and at the follow-up (mean follow-up 20 months, range 3–67 months). Complications developed in 3 patients (18%) including epistaxis, chronic serous otitis media, eye dryness, and a transient sixth cranial nerve palsy. Two patients (12%) had a symptomatic recurrence of the cyst requiring repeat endoscopic endonasal drainage. There were no instances of internal carotid artery injuries, CSF leaks, or new hearing loss. The mean postoperative hospital stay was 2 days (range 0.7–4.6 days). These results were comparable with those in previous studies of open approaches to petrous apex CGs.

There was a strong correlation between the size of the cyst and the type of approach chosen (Rpb [point biserial correlation coefficient] = +0.67, p = 0.003359) and a very strong correlation between the degree of medial extension (defined by the V-angle) and the choice of approach (Rpb = +0.81, p < 0.0001). Based on these observations, the authors developed an algorithm for guiding the choice of the most appropriate route of drainage.

Conclusions

The EEA is a safe and effective alternative to traditional open approaches to petrous apex CGs.

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Juan C. Fernandez-Miranda, Carlos D. Pinheiro-Neto, Paul A. Gardner and Carl H. Snyderman

The authors present the technical and anatomical nuances needed to perform an endoscopic endonasal removal of a tuberculum sellae meningioma. The patient is a 47-year-old female with headaches and an incidental finding of a small tuberculum sellae meningioma with no vascular encasement, no optic canal invasion, but mild inferior to superior compression of the cisternal segment of the left optic nerve. Neuroophthalmology assessment revealed no visual defects. Treatment options included clinical observation with imaging follow-up studies, radiosurgery, and resection. The patient elected to undergo surgical removal and an endonasal endoscopic approach was the preferred surgical option.

Preoperative radiological studies showed the presence of an osseous ring between the left middle and anterior clinoids, the so-called carotico-clinoidal ring. The surgical implications of this finding and its management are illustrated. The surgical anatomy of the suprasellar region is reviewed, including concepts such as the chiasmatic sulcus and limbus sphenoidale, medial and lateral optico-carotid recesses, and the paraclinoidal and supraclinoidal segments of the internal carotid artery. Emphasis is made in the importance of exposing the distal dural ring of the internal carotid artery and the precanalicular segment of the optic nerve for adequate intradural dissection. The endonasal route allows for early coagulation of the tumor meningeal supply and extensive resection of dural attachments, and importantly, provides an inferior to superior access to the infrachiasmatic region that facilitates complete tumor removal without any manipulation of the optic nerve. The lateral limit of dural removal is formed by the distal dural ring, which is gently coagulated after the tumor is resected. A 45° scope is used to inspect for any residual tumor, in particular at the entrance of the optic nerve into the optic canal and at the most anterior margin of the exposure (limbus sphenoidale). The steps for reconstruction are detailed and include intradural placement of dural substitute and extradural placement of the nasoseptal flap. The nuances for proper harvesting, positioning, and reinforcement of the flap are described. No lumbar drain was used.

The patient had an uneventful recovery with no CSF leak or any other complications. Imaging follow-up at 6 months showed complete removal of the tumor. The patient had no sinonasal or neurological symptoms, and olfaction was fully preserved.

The video can be found here: http://youtu.be/kkuV-yyEHMg.

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Sebastian Rubino, Jiang Qian, Carlos D. Pinheiro-Neto, Tyler J. Kenning and Matthew A. Adamo

Hypothalamic hamartomas are benign tumors known to cause gelastic or dacrystic seizures, precocious puberty, developmental delay, and medically refractory epilepsy. These tumors are most often sporadic but rarely can be associated with Pallister-Hall syndrome, an autosomal dominant familial syndrome caused by truncation of glioblastoma transcription factor 3, a downstream effector in the sonic hedgehog pathway. In this clinical report, the authors describe two brothers with a different familial syndrome. To the best of the authors’ knowledge, this is the first report in the literature describing a familial syndrome caused by germline mutations in the Smoothened (SMO) gene and the first familial syndrome associated with hypothalamic hamartomas other than Pallister-Hall syndrome. The authors discuss the endoscopic endonasal biopsy and subtotal resection of a large hypothalamic hamartoma in one of the patients as well as the histopathological findings encountered. Integral to this discussion is the understanding of the hedgehog pathway; therefore, the underpinnings of this pathway and its clinical associations to date are also reviewed.

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Matthew J. Tormenti, Alessandro Paluzzi, Carlos D. Pinheiro-Neto, Juan C. Fernandez-Miranda, Carl H. Snyderman and Paul A. Gardner

The authors present a fully endoscopic endonasal repair of a spontaneous CSF leak caused by a defect in the anterior fossa floor. Patients were positioned supine in a Mayfield headholder in slight extension. A complete ethmoidectomy was performed to expose the defect. The middle turbinate was removed to increase visualization and allow for more working room. The defect was identified and exposed. A nasoseptal flap was raised and placed over the defect. A free-mucosal graft fashioned from the removed middle turbinate was placed on the nasoseptal donor site.

The video can be found here: http://youtu.be/gAN2cvQVXCE.