CXT is a rare inherited autosomal recessive lipid storage disease due to the impaired metabolic pathway of cholesterol secondary to a deficiency in 27- sterol hydroxylase, an enzyme in the synthesis of chenodeoxycholi...CXT is a rare inherited autosomal recessive lipid storage disease due to the impaired metabolic pathway of cholesterol secondary to a deficiency in 27- sterol hydroxylase, an enzyme in the synthesis of chenodeoxycholic acid (CDCA), a primary bile acid. Abnormal bile acid synthesis leads to elevated plasma Cholestanol (a derivative of cholesterol) accumulation, especially in the lens, central nervous system (CNS) and tendons.展开更多
Cobb syndrome is a rare entity characterized by cutaneous vascular lesions and arteriovenous malformations in the spine, both in the same metamere. This syndrome is also known as cutaneous vertebral medullary angiomat...Cobb syndrome is a rare entity characterized by cutaneous vascular lesions and arteriovenous malformations in the spine, both in the same metamere. This syndrome is also known as cutaneous vertebral medullary angiomatosis, cutaneomeningospinal angiomatosis, and spinal arterial metameric disorder. We report the case of a male infant diagnosed with Cobb syndrome who was treated surgically. The presence of a cutaneous vascular lesion in this patient prompted subsequent imaging for spinal angioma or AVM in the same dermatome. Early recognition in this patient was shown to be life-changing, as patients with Cobb syndrome who have undergone early intervention have shown to be without neurologic deficit or have a halt in progression of symptoms.展开更多
Purpose: To describe the extremely rare occurrence of acinic cell carcinoma of the parotid in a young child. Materials & Methods: A 14-year-old boy presented with a left sided facial mass. It was initially thought...Purpose: To describe the extremely rare occurrence of acinic cell carcinoma of the parotid in a young child. Materials & Methods: A 14-year-old boy presented with a left sided facial mass. It was initially thought to be a bug bite or perhaps a wrestling injury. However, it progressed rapidly overall several weeks. CT revealed a well-circumscribed, cystic, 3.9 × 2.8 × 3.2 cmmass centered in the deep lobe of the left parotid gland, also involving the superficial lobe and extending medially through the stylomandibular tunnel with a component extending to the stylomastoid foramen. There was no solid enhancing portion. There were several enlarged level II lymph nodes suspicious for nodal metastases. Results: The mass was biopsied and pathology was consistent with acinic cell carcinoma. Complete left parotidectomy and left selective neck dissection was performed, confirming the diagnosis. Conclusions: Salivary gland neoplasms are rare in children. Less than 5% of salivary gland tumors occur in children. Salivary gland neoplasms account for less than 8% of pediatric head and neck tumors. Approximately 1/3 of salivary gland tumors arising in childhood are malignant;most being mucoepidermoid. Acinic cell carcinoma of the parotid gland in children is extremely rare, especially in those under age 16, with only a few available case reports. This case was also unusual in that the lesion was predominantly cystic.展开更多
A 68 year old with lower extremity numbness, vibratory sensation loss, coldness and burning of his feet, unsteady gait, frequent falls and a sensory level had an MRI demonstrating aT7 and T8 vertebral body/posterior e...A 68 year old with lower extremity numbness, vibratory sensation loss, coldness and burning of his feet, unsteady gait, frequent falls and a sensory level had an MRI demonstrating aT7 and T8 vertebral body/posterior element lesion with epidural extension, cord compression and foraminal extension (Figures 1-5). Decompressive laminectomy/resection confirmed vertebral hemangioma, a common benign neoplasm that typically remains asymptomatic, found incidentally in 10% of the population. Progressive vertebral body hemangiomas may cause cord or nerve root compression due to epidural tumor extension, expanded bone, hematoma or fracture. Radiographs demonstrate course vertical striations caused by thick trabeculae. CT in indolent lesions demonstrates fat density while compressive lesions demonstrate soft tissue density. Indolent lesions follow fat signal on MRI;symptomatic lesions are T1 isointense/T2 hyperintense. Work-up for aggressive hemangiomas includes angiography to determine vascularity, identify feeding/draining vessels and identify blood supply to the cord. Biopsy helps differentiate hemangioma, lymphoma, myeloma or metastasis. Management of symptomatic hemangiomas includes vertebroplasty for pain, radiation for pain, compression or pre-op and decompressive laminectomy for epidural disease. Embolization of feeding vessels may be performed pre-op or may be curative. Hemangioma causing cord compression and neurologic symptoms by extraosseous extension is much less common than benign hemangioma. Imaging features may suggest potential for progression.展开更多
A 22 year old six month pregnant female presented with right eye tearing, proptosis and nasal congestion. CT revealed a large right nasal cavity mass with involvement of the ethmoids, right maxillary sinus, lamina pap...A 22 year old six month pregnant female presented with right eye tearing, proptosis and nasal congestion. CT revealed a large right nasal cavity mass with involvement of the ethmoids, right maxillary sinus, lamina papyracea, cribriform plate and nasal septum. There was significant remodeling of the right cribriform plate with mild extra-axial intracranial and mild intraorbital extension. Transnasal endoscopic excision confirming the diagnosis of cavernous hemangioma of the nasal cavity. Hemangiomas are benign slow-growing vascular neoplasms classified as capillary, cavernous or mixed. Hemangiomas of the nasal cavity and paranasal sinuses are very rare with only a few reported cases. The occurrence and growth of these lesions during pregnancy may be related to increased blood volume or hormonal factors. The most common therapeutic option is complete surgical resection via transnasal endoscopic approach. Pre-operative embolization may be utilized in some cases to decrease the risk of intraoperative bleeding.展开更多
A 12-year-old boy presented to his primary care physician with a painful lump at the angle of the left mandible after being kicked in the jaw during a soccer game. Over the next 2 months the lesion became progressivel...A 12-year-old boy presented to his primary care physician with a painful lump at the angle of the left mandible after being kicked in the jaw during a soccer game. Over the next 2 months the lesion became progressively firmer and fine needle aspiration was attempted. Results were non-diagnostic. Panorex examination revealed a calcified mass contiguous with the left angle of the mandible. Considerations were bony callus secondary to trauma versus a calcified hematoma. A maxillofacial CT showed multiple diffuse craniofacial osseous lesions including the clinically suspected region at the left angle of the mandible. Imaging findings were consistent with multiple craniofacial osteomas and workup for Gardner Syndrome was initiated. Genetic testing was subsequently positive for Familial Adenomatous Polyposis.展开更多
文摘CXT is a rare inherited autosomal recessive lipid storage disease due to the impaired metabolic pathway of cholesterol secondary to a deficiency in 27- sterol hydroxylase, an enzyme in the synthesis of chenodeoxycholic acid (CDCA), a primary bile acid. Abnormal bile acid synthesis leads to elevated plasma Cholestanol (a derivative of cholesterol) accumulation, especially in the lens, central nervous system (CNS) and tendons.
文摘Cobb syndrome is a rare entity characterized by cutaneous vascular lesions and arteriovenous malformations in the spine, both in the same metamere. This syndrome is also known as cutaneous vertebral medullary angiomatosis, cutaneomeningospinal angiomatosis, and spinal arterial metameric disorder. We report the case of a male infant diagnosed with Cobb syndrome who was treated surgically. The presence of a cutaneous vascular lesion in this patient prompted subsequent imaging for spinal angioma or AVM in the same dermatome. Early recognition in this patient was shown to be life-changing, as patients with Cobb syndrome who have undergone early intervention have shown to be without neurologic deficit or have a halt in progression of symptoms.
文摘Purpose: To describe the extremely rare occurrence of acinic cell carcinoma of the parotid in a young child. Materials & Methods: A 14-year-old boy presented with a left sided facial mass. It was initially thought to be a bug bite or perhaps a wrestling injury. However, it progressed rapidly overall several weeks. CT revealed a well-circumscribed, cystic, 3.9 × 2.8 × 3.2 cmmass centered in the deep lobe of the left parotid gland, also involving the superficial lobe and extending medially through the stylomandibular tunnel with a component extending to the stylomastoid foramen. There was no solid enhancing portion. There were several enlarged level II lymph nodes suspicious for nodal metastases. Results: The mass was biopsied and pathology was consistent with acinic cell carcinoma. Complete left parotidectomy and left selective neck dissection was performed, confirming the diagnosis. Conclusions: Salivary gland neoplasms are rare in children. Less than 5% of salivary gland tumors occur in children. Salivary gland neoplasms account for less than 8% of pediatric head and neck tumors. Approximately 1/3 of salivary gland tumors arising in childhood are malignant;most being mucoepidermoid. Acinic cell carcinoma of the parotid gland in children is extremely rare, especially in those under age 16, with only a few available case reports. This case was also unusual in that the lesion was predominantly cystic.
文摘A 68 year old with lower extremity numbness, vibratory sensation loss, coldness and burning of his feet, unsteady gait, frequent falls and a sensory level had an MRI demonstrating aT7 and T8 vertebral body/posterior element lesion with epidural extension, cord compression and foraminal extension (Figures 1-5). Decompressive laminectomy/resection confirmed vertebral hemangioma, a common benign neoplasm that typically remains asymptomatic, found incidentally in 10% of the population. Progressive vertebral body hemangiomas may cause cord or nerve root compression due to epidural tumor extension, expanded bone, hematoma or fracture. Radiographs demonstrate course vertical striations caused by thick trabeculae. CT in indolent lesions demonstrates fat density while compressive lesions demonstrate soft tissue density. Indolent lesions follow fat signal on MRI;symptomatic lesions are T1 isointense/T2 hyperintense. Work-up for aggressive hemangiomas includes angiography to determine vascularity, identify feeding/draining vessels and identify blood supply to the cord. Biopsy helps differentiate hemangioma, lymphoma, myeloma or metastasis. Management of symptomatic hemangiomas includes vertebroplasty for pain, radiation for pain, compression or pre-op and decompressive laminectomy for epidural disease. Embolization of feeding vessels may be performed pre-op or may be curative. Hemangioma causing cord compression and neurologic symptoms by extraosseous extension is much less common than benign hemangioma. Imaging features may suggest potential for progression.
文摘A 22 year old six month pregnant female presented with right eye tearing, proptosis and nasal congestion. CT revealed a large right nasal cavity mass with involvement of the ethmoids, right maxillary sinus, lamina papyracea, cribriform plate and nasal septum. There was significant remodeling of the right cribriform plate with mild extra-axial intracranial and mild intraorbital extension. Transnasal endoscopic excision confirming the diagnosis of cavernous hemangioma of the nasal cavity. Hemangiomas are benign slow-growing vascular neoplasms classified as capillary, cavernous or mixed. Hemangiomas of the nasal cavity and paranasal sinuses are very rare with only a few reported cases. The occurrence and growth of these lesions during pregnancy may be related to increased blood volume or hormonal factors. The most common therapeutic option is complete surgical resection via transnasal endoscopic approach. Pre-operative embolization may be utilized in some cases to decrease the risk of intraoperative bleeding.
文摘A 12-year-old boy presented to his primary care physician with a painful lump at the angle of the left mandible after being kicked in the jaw during a soccer game. Over the next 2 months the lesion became progressively firmer and fine needle aspiration was attempted. Results were non-diagnostic. Panorex examination revealed a calcified mass contiguous with the left angle of the mandible. Considerations were bony callus secondary to trauma versus a calcified hematoma. A maxillofacial CT showed multiple diffuse craniofacial osseous lesions including the clinically suspected region at the left angle of the mandible. Imaging findings were consistent with multiple craniofacial osteomas and workup for Gardner Syndrome was initiated. Genetic testing was subsequently positive for Familial Adenomatous Polyposis.
