Neonatal respiratory distress produced by a nasopharyngeal glioma with a persistent craniopharyngeal canal.

Nasopharyngeal gliomas are congenital masses of heterotopic glial tissue. Our case report describes an infant with respiratory distress produced by a nasopharyngeal glioma with a persistent craniopharyngeal canal (CPC). The identification of CPC is important for medical and surgical management of possible pituitary dysfunction and preventing operative and post-operative complications.

Robotic excision of a pre-coccygeal nerve root tumor.

Pre-coccygeal ganglioneuroma is a rare clinical entity that presents incidentally or with non-specific symptoms. We present a case of a 25 year old housewife who was incidentally diagnosed with pre-coccygeal ganglioneuroma while getting investigated for primary infertility. The patient had no specific complaints except for irregular menstruation which had started 8 months back. Magnetic resonance imaging (MRI) was suggestive of a presacral and pre-coccygeal lesion. Resection of the tumor was done through the anterior approach using the da Vinci Si robotic system. Two robotic arms and one assistant port were used to completely excise the tumor. Robotic excision of such a tumor mass located at a relatively inaccessible area allows enhanced precision and 3-dimentional (3D) view avoiding damage to important surrounding structures.

Imaging of cartilage repair procedures.

The rationale for cartilage repair is to prevent precocious osteoarthritis in untreated focal cartilage injuries in the young and middle-aged population. The gamut of surgical techniques, normal postoperative radiological appearances, and possible complications have been described. An objective method of recording the quality of repair tissue is with the magnetic resonance observation of cartilage repair tissue (MOCART) score. This scoring system evaluates nine parameters that include the extent of defect filling, border zone integration, signal intensity, quality of structure and surface, subchondral bone, subchondral lamina, and records presence or absence of synovitis and adhesions. The five common techniques of cartilage repair currently offered include bone marrow stimulation (microfracture or drilling), mosaicplasty, synthetic resorbable scaffold grafts, osteochondral allograft transplants, and autologous chondrocyte implantation (ACI). Complications of cartilage repair procedures that may be demonstrated on magnetic resonance imaging (MRI) include plug loosening, graft protuberance, graft depression, and collapse in mosaicplasty, graft hypertrophy in ACI, and immune response leading to graft rejection, which is more common with synthetic grafts and cadaveric allografts.

Indian-subcontinent NBIA: unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms.

Neurodegeneration with brain iron accumulation (NBIA) is etiologically, clinically, and by imaging a heterogeneous group including NBIA types 1 [pantothenate kinase-associated neurodegeneration (PKAN)] and 2 (PLA2G6-associated neurodegeneration), neuroferritinopathy, and aceruloplasminaemia. Data on genetically defined Indian-subcontinent NBIA cases are limited. We report 6 patients from the Indian-subcontinent with a movement disorder and MRI basal ganglia iron deposition, compatible with diagnosis of an NBIA syndrome. All patients were screened for abnormalities in serum ceruloplasmin and ferritin levels and mutations in NBIA-associated genes [pantothenate kinase 2 (PANK2), PLA2G6 and ferritin light chain (exon 4)]. We present clinical, imaging and genetic data correlating phenotype-genotype relations. Four patients carried PANK2 mutations, two of these were novel. The clinical phenotype was mainly dystonic with generalized dystonia and marked orobulbar features in the 4 adolescent-onset cases. One of the four had a late-onset (age 37) unilateral jerky postural tremor. His mutation, c.1379C>T, appears associated with a milder phenotype. Interestingly, he developed the eye-of-the-tiger sign only 10 years after onset. Two of the six presented with adult-onset levodopa (L-dopa)-responsive asymmetric re-emergent rest tremor, developing L-dopa-induced dyskinesias, and good benefit to deep brain stimulation (in one), thus resembling Parkinson's disease (PD). Both had an eye-of-the-tiger sign on MRI but were negative for known NBIA-associated genes, suggesting the existence of further genetic or sporadic forms of NBIA syndromes. In conclusion, genetically determined NBIA cases from the Indian subcontinent suggest presence of unusual phenotypes of PANK2 and novel mutations. The phenotype of NBIA of unknown cause includes a PD-like presentation.

Dorsal spinal epidural cavernous hemangioma.

A 61-year-old female patient presented with diffuse pain in the dorsal region of the back of 3 months duration. The magnetic resonance imaging showed an extramedullary, extradural space occupative lesion on the right side of the spinal canal from D5 to D7 vertebral levels. The mass was well marginated and there was no bone involvement. Compression of the adjacent thecal sac was observed, with displacement to the left side. Radiological differential diagnosis included nerve sheath tumor and meningioma. The patient underwent D6 hemilaminectomy under general anesthesia. Intraoperatively, the tumor was purely extradural in location with mild extension into the right foramina. No attachment to the nerves or dura was found. Total excision of the extradural compressing mass was possible as there were preserved planes all around. Histopathology revealed cavernous hemangioma. As illustrated in our case, purely epidural hemangiomas, although uncommon, ought to be considered in the differential diagnosis of spinal epidural soft tissue masses. Findings that may help to differentiate this lesion from the ubiquitous disk prolapse, more common meningiomas and nerve sheath tumors are its ovoid shape, uniform T2 hyperintense signal and lack of anatomic connection with the neighboring intervertebral disk or the exiting nerve root. Entirely extradural lesions with no bone involvement are rare and represent about 12% of all intraspinal hemangiomas.