Intracranial aneurysm associated with aortic coarctation: a case report and literature review

We report a new and rare case associating an intracranial aneurysm and aortic coarctation. Based on this case and a review of the literature we discuss the clinical aspects, the pathogenesis and the management of this disorder predominantly observed in the adolescent and young adult population.     

Primary extramedullary spinal germinoma: case report and review of the literature

The authors describe a case of a purely primary extramedullary spinal germinoma in a young Chinese male. Primary spinal germinoma is extremely rare tumor. Currently, less than 30 histologically verified spinal germinoma cases have been reported previously, mostly involving Asian of Japanese descent. This 24-year-old male suffered from progressive low back pain radiating to both legs. Magnetic resonance imaging showed a well-demarcated, intradural extramedullary mass at the level of L2 and L3. The lesion was totally removed and was confirmed as a germinoma. Upon histological verification of the tumor, he was treated successfully with radiotherapy and adjuvant chemotherapy. This report also reviews the literature pertaining to primary spinal germinoma. Except for 16 cases with intramedullary lesions and five cases with both intra- and extramedullary tumors, there were only three previously reported cases of extramedullary spinal germinomas, all initially presenting with sausage-like lesions. To the authors’ knowledge, it is thought to be the first case of such a tumor, roughly round in shape and extramedullary location. Although rare, primary spinal germinoma do occur and should be included in the differential diagnosis of spinal tumors. Aggressive malignant behavior has been reported and close follow-up is necessary.     

De novo germinoma in the brain in association with Klinefelter's syndrome: case report and review of the literature

BACKGROUND: There are no previous reports about de novo germ cell tumors without any past history of germ cell tumor. We describe a case of de novo cerebral germinoma in association with Klinefelter's syndrome. CASE DESCRIPTION: A boy had undergone growth hormone therapy for dwarfism because of hypopituitarism from 10 to 17 years old. The result of karyotyping at the age of 13 was 47,XXY. Magnetic resonance images (MRI) of the brain at the age of 17 years showed no lesions. Two years later, at the age of 19, the patient noticed onset of mild right hemiparesis. MR imaging revealed the existence of a brain tumor in the left temporal lobe and hypothalamus. The patient underwent an operation and the histologic diagnosis of the lesion was germinoma. After postoperative chemotherapy and radiation therapy, the lesion disappeared and the patient was discharged uneventfully. CONCLUSIONS: To the best of the authors' knowledge, this is the first reported case of a germ cell tumor to be de novo without any past history of other germ cell tumor and the seventh case in which it occurred in association with Klinefelter's syndrome.     

Intracranial germinoma presenting with hemiatrophy--follow-up results and literature review--two case reports

Two boys aged 8 and 12 years presented with intracranial germinoma manifesting as cerebral hemispheric atrophy, hemiparesis, and decline in academic performance. First magnetic resonance (MR) imaging showed no enhanced lesions, but follow-up MR imaging obtained 12 or 23 months after the first visit showed new mass lesions in the temporal lobe or pituitary gland. Biopsy of these lesions resulted in a histological diagnosis of germinoma. Chemoradiation therapy produced complete remission but both patients continued to manifest mild hemiparesis and impaired cognitive function. Review of 18 previous and our 2 patients presenting with hemispheric atrophy revealed strong male predominance (18:2), mean age of 12.8 ± 5.2 (standard deviation) years, hemiparesis in all patients, and cognitive decline in 9 patients. Initial MR imaging detected mass lesions in only 9 patients, but follow-up MR imaging performed 10-38 months later detected new mass lesions in 5 patients. Radiation with/without chemotherapy provided good tumor control in all patients, but none of the 9 patients with cognitive dysfunction recovered their intellectual ability. We recommend early diagnosis based on biopsy of the atrophic site and timely treatment to improve the quality of life in these patients.     

Pancreatoblastoma associated with incomplete Beckwith-Wiedemann syndrome: case report and review of the literature

A case of pancreatoblastoma (PB) in a 2 month-old male infant with incomplete Beckwith-Wiedemann syndrome is presented. Clinical examination disclosed left hemihypertrophy, macroglossia, bilateral exophthalmos, and enlargement of the left testis. Imaging with ultrasound and computed tomography scan showed a well-defined, heterogeneous, and grossly cystic mass arising from the head of the pancreas. Serum alpha-fetoprotein (AFP) level was elevated. The tumor was completely resected, and the histological analysis showed PB. The patient's recovery was uneventful, and AFP returned to normal values after surgery. The child has been disease-free for 5 years, and his serum AFP remained within normal values. Six other examples of this association, PB, and Beckwith-Wiedemann syndrome are recorded in the literature. The risk of developing tumor in this syndrome (complete and incomplete form) increases when hemihypertrophy is present, and the need for routine screening examination is warranted. Beckwith-Wiedemann syndrome was suggested to be a favorable biological marker for survival in children who have intraabdominal tumors.     

Hemangioma of the radius associated with Kasabach-Merritt syndrome: case report and literature review

The Kasabach-Merritt syndrome of consumptive coagulopathy associated with massive hemangiomas is a potentially life-threatening problem in patients with a pathologic fracture of the osseous lesion. This can result in massive bleeding even after minor trauma. In such patients, operative management of long bone hemangiomatous lesions, including percutaneous needle aspirations, may be contraindicated, and nonoperative management may be preferable. Kasabach-Merritt syndrome must be suspected in patients with large hemangiomas with associated bone lesions, and appropriate coagulation studies should be obtained before any operative management. Review of the world English literature on Kasabach-Merritt syndrome has revealed that the most common pathologic fractures occur in the vertebral bodies. An additional case report of a child with a pathologic fracture and deformity of his radius has been documented. Decreased hematocrit and fibrinogen levels associated with thrombocytopenia and a prolonged prothrombin time and partial thromboplastin time in association with bone hemangioma should alert the orthopaedist to the possibility of Kasabach-Merritt syndrome.     

Systemic metastasis from primary intracranial germinoma: a case report and literature review

A case of systemic haematogenous metastasis occurring post-operatively from a primary suprasellar intracranial germinoma is reported. While local invasion and direct spread associated with surgical incision and shunt procedures are well known, haematogenous metastasis of these tumours is extremely rare. Problems associated with establishing this diagnosis are discussed.     

Intracranial capillary hemangioma: case report and review of the literature

BACKGROUND: Capillary hemangiomas are benign vascular lesions that commonly present at birth or in early infancy on the face, scalp, back, or chest. The authors present an exceedingly rare case of an intracranial capillary hemangioma arising in an adult. Only 4 biopsy-proven cases have been reported in the pediatric population previous to this case report. CASE DESCRIPTION: A 31-year-old pregnant woman presented at 38 weeks of gestation with severe headaches, nausea, and vomiting. Imaging revealed an extra-axial mass lesion arising from the tentorium with both supra- and infratentorial components. The patient underwent a resection of her tumor, which was diagnosed as a capillary hemangioma by histopathologic examination. The patient required 2 further resections after the lesion exhibited a rapid regrowth from residual tumor in the left transverse sinus. The patient has remained free of disease 41 months out from her third surgery. CONCLUSIONS: Intracranial capillary hemangiomas are exceedingly rare entities, with a capability for rapid growth. When gross total resection cannot be achieved, these patients should be observed closely, and the use of adjuvant radiotherapy should be considered.     

Smith-Lemli-Opitz syndrome: case report and literature review

The authors report the case of a 6-week-old boy with the Smith-Lemli-Opitz-syndrome (SLOS) and review the literature on the subject. Intersexuality was suspected and a laparoscopy performed. Abnormalities of the gastrointestinal tract, the lower extremities, and the face prompted DNA analysis, which found a defect of cholesterol biosynthesis in the form of the Smith-Lemli-Opitz-syndrome, a rare congenital defect. The clinical course of this case is compared with similar cases in the literature.     

Leg ulcers associated with Klinefelter's syndrome: a case report and review of the literature

We present the case of a young man with type II diabetes, stage III chronic kidney disease, hypertension, obstructive sleep apnea and diabetes who presented to the Georgetown University Hospital Center for Wound Healing with refractory lower extremity ulcers. Autoimmune work-up was negative. However, chromosome analysis showed a genetic variant of Klinefelter's syndrome (48 XXYY). Lower extremity ulceration is a recognised complication of Klinefelter's syndrome. The pathogenesis of ulcers in this endocrinopathy is unclear, but associations with abnormalities of fibrinolysis and prothrombotic states are reported. This case emphasises the importance of considering Klinefelter's syndrome in the differential diagnosis of a sterile male patient with non healing lower extremity ulcers.     

Intracranial extraskeletal myxoid chondrosarcoma: case report and review of the literature

Summary. Summary.   Background: We describe a patient with an intracranial extra skeletal myxoid chondrosarcoma (EMC), an unusual neoplasm of the deep soft tissues of the extremities. Very rarely are they localised as an intracranial lesion, and we believe it is very important to accurately distinguish EMC from other intracranial tumours such as classical or “skeletal” chondrosarcomas, mesenchymal chondrosarcoma, enchondroma, and myxoid tumours (chordoma, and chondromyxoid fibroma) in order to determine their prognostic implications. Furthermore, this case presents with the second local recurrence, higher-grade cellular areas, such an event has never been reported in intracranial cases.   Method: A 17 year-old female presented with tonic and clonic seizures, episodic left hemiplegia and intense right-sided headaches. Computed tomography and magnetic resonance of the skull showed a right fronto-parietal cortical lesion. Complete surgical excision of the lesion through a right parieto-temporal craniotomy was performed. The tumoral lesion recurred locally twice (16 and 19 months after the initial surgery respectively).   Findings: First and second surgical specimens where diagnosed as extra skeletal myxoid chondrosarcoma. Microscopically, the third specimen (second local recurrence) showed abrupt transition from areas of conventional myxoid chondrosarcoma to high-grade cellular areas with fusiform features.   Interpretation: Extra skeletal myxoid chondrosarcoma is very rarely described as an intracranial lesion. Reference on this topic is very confusing as there is no clear-cut distinction between skeletal chondrosarcomas with prominent myxoid matrix and extra skeletal myxoid chondrosarcoma which is a definite entity first defined by Enzinger and Shiraki in 1972 in deep soft tissues of the extremities. We review the cases reported in the literature with the diagnosis of myxoid chondrosarcoma either of extra skeletal origin or with skeletal attachment, and analyse their clinic and pathological features. Published online July 18, 2002     

Paraneoplastic neurologic syndrome associated with occult breast cancer: a case report and review of literature

We report a case of occult breast cancer presenting as paraneoplastic sensory and motor neuropathy. The paraneoplastic antibody panel was negative and no other unknown identifiable antibody could be detected in the serum. Systemic treatment with four cycles of Adriamycin and cyclophosphamide was given with no significant improvement in the neurologic condition. We reviewed the literature of the last 10 years and identified 31 reported cases of paraneoplastic neurologic syndrome due to breast cancer. Paraneoplastic antibodies could be found in only 36% of patients, no identifiable antibodies in 32% of patients, and unknown antibodies in 16% of patients. The status of the paraneoplastic antibodies was not reported in 16% of patients. Only 29% of patients responded to chemotherapy with improvement in neurologic deficits. The role of systemic treatment in the progression of neurologic impairment is unclear.     

Bertolotti综合征1例报告并文献复习

腰骶部移行椎(LSTV)是腰骶椎最常见的先天性畸形之一,发生率为4.0％ ～ 35.0％,骶化的腰椎椎体形态表现多样,包括从横突肥大到横突与骶骨完全融合等多种类型[1-3].腰化的骶椎椎体倾向方形化,并且有完整的S1/S2椎间盘结构.LSTV易合并腰椎椎间盘突出症及腰椎滑脱,LSTV的上位节段更容易发生退行性疾病,当腰...     

Vasculitis associated with septicemia: case report and review of the literature

We report an unusual case in which infectious endocarditis presented systemic vasculitis and glomerulonephritis as the initial manifestation of the disease. The patient was a 16-year-old girl with congenital cyanotic heart disease who presented with skin purpura, proteinuria, and hematuria. She had hypergammaglobulinemia, cryoglobulinemia, and positive circulating immune complexes. Renal biopsy revealed crescentic glomerulonephritis. Her serum C3 level, which was initially normal, became decreased, and prednisolone and azathioprine were administered with a tentative diagnosis of systemic lupus erythematosus (SLE). Soon after, she developed fever and renal failure. Blood culture grew Streptococcus pyogenes, and the diagnosis of infectious endocarditis was made. Eight cases of systemic vasculitis and glomerulonephritis associated with infectious endocarditis have been described in the literature. Infectious endocarditis should be included in the differential diagnosis of systemic vasculitis and glomerulonephritis. Received: 19 March 2001 / Revised: 14 August 2001 / Accepted: 21 August 2001     

Intracranial plasma cell granuloma--a case report and review of the literature

We report a case of plasma cell granuloma which is a rare intracranial tumour showing plasma cell infiltration. It mimics meningioma and solitary plasmacytoma clinically and radiologically. Clinical presentation, diagnostic investigations and management are discussed with a review of the literature.     

Biliary atresia associated with hypoplastic left heart syndrome: a case report and review of the literature

Biliary atresia is a cholestatic disorder of infancy that is associated with other anatomic anomalies in approximately 20% of cases. These frequently are defects in situs determination and laterality, causing syndromes of heterotaxy and complex heart defects. The authors describe an infant with both biliary atresia and hypoplastic left heart syndrome (HLHS) in the absence of a laterality defect or evidence of any other morphologic defect. The presence of a hypoplastic left ventricle in a patient with biliary atresia has previously been reported only in the context of a heterotaxy syndrome. The coexistence of these 2 disorders raises etiologic considerations and represents a potential challenge for the surgical treatment of both conditions.     

Intracranial hematoma associated with acquired immunodeficiency syndrome (AIDS): case report

The authors report a case of intracranial hematoma associated with AIDS. A male aged 21 had been treated with infusion of factor VIII to control hemophilia A. He fell down and hit his right occipital region. Immediately after the impact, he became comatose. When he was hospitalized 30 minutes after the injury, a herniation sign was recognized. CT scan revealed right acute subdural hematoma that showed mixed density. This hematoma was successfully removed with HITT (hematoma irrigation with trephination therapy) and he recovered almost completely. However he died when the intracerebral hematoma bled suddenly on the 20th day after surgery. We assumed the hematoma was related to vasculitis induced by AIDS. Three points in this case impressed us. First, HITT is very useful for treating acute subdural hematoma associated with AIDS. Second, the patient's condition may deteriorate suddenly through intracerebral hematoma originating from AIDS-related vasculitis, although the coagulation factors are well maintained. Third, a manual for management of cases of AIDS is necessary to avoid confusion among the medical staff.