Three‐dimensional visualization of renal artery stenosis by 64‐channel multiple detector‐row computed tomographical angiography: review of two paediatric cases

Three‐dimensional visualization of renal arteries has recently been established by helical contrast‐enhanced multiple detector‐row computed tomographical angiography (MDCTA) in adults. So far, no information is available on its use in children. We reported two children with renal artery stenosis detected by 64‐channel MDCTA. The first patient probably had fibromuscular dysplasia and the other neurofibromatosis type1. The technique showed a left renal artery stenosis with a small left kidney in the first patient and a right renal artery stenosis in the second. Conclusion: MDCTA is an accurate and noninvasive imaging technique, easily performed in children, and can be used as an alternative diagnostic modality in children with suspected renovascular hypertension.     

Hippocampal sclerosis and associated focal cortical dysplasia-related epilepsy in neurofibromatosis type I

Neurofibromatosis type I (NF1) is a relatively common disorder associated with a range of neurologic sequelae. Refractory epilepsy occurs in 4–13% of NF1 patients. Hippocampal sclerosis and focal cortical dysplasia, both well-defined epilepsy-related entities, have been described in a subset of cases. To our knowledge, there has been only one other series describing coexistent focal cortical dysplasia and hippocampal sclerosis in the setting of NF1. We report two such patients who presented with intractable seizures requiring epilepsy surgery. Histologically, the hippocampal sclerosis specimen met criteria for the International League Against Epilepsy (ILAE) hippocampal sclerosis subtypes Ia and II respectively. The associated focal cortical dysplasia observed within the resected temporal lobe were both consistent with ILAE focal cortical dysplasia type IIIa (e.g. associated with a secondary lesion). Post-operatively, both patients had recurrence of habitual seizures, with one case continuing to have intractable seizures following two subsequent temporal lobectomies. Although hippocampal sclerosis association with focal cortical dysplasia is well document in epilepsy, it has been rarely described in the setting of neurofibromatosis type I. Although prior surgical series have shown good epilepsy surgery outcomes within neurofibromatosis type I, these two cases did not.     

A case of meningioangiomatosis without von Recklinghausen's disease

Meningioangiomatosis is rare disease and is classified as hamartoma in central neurofibromatosis. Unlike most cases of meningioangiomatosis, the very rare case reported here was not associated with von Recklinghausen's disease. We could find only 12 previous cases reported in the literature. A review was carried out of the clinical features, imaging characteristics, and histopathological findings in those 12 plus ours for a total 13 cases. Several types of convulsion were identified as clinical symptoms in 11 of the 13 cases.They were treated surgically. Prognosis was satisfactory in most cases. Proliferation of small blood vessels accompanied by endothelial cells with glial tissue as background and proliferation of fibroblasts or meningothelial cells in the perivascular space were observed to be the most frequent histopathological features.     

Axons induce differentiation of neurofibroma Schwann-like cells

Summary Neurofibromatosis type 1 (NF-1, von Recklinghausen's disease) is characterized by the focal accumulation of Schwann-like cells (SLC) to form subcutaneous and plexiform neurofibromas and schwannomas. The aim of the present study was to determine whether NF-SLC are competent to differentiate in the presence of axons. Five dermal neurofibromas from five patients with NF-type 1 were enzymatically dissociated and the resultant cells were co-cultured with fetal rat dorsal root ganglion neurons. The cultures were studied by indirect immunofluorescence microscopy using antibodies against galactocerebroside (galC), P0 glycoprotein, human nerve growth factor receptor (NGFR) and human myelin-associated glycoprotein (MAG). SLC were strongly NGFR⁺ but galC^– and MAG^–SLC for the 2 weeks of coculture. After 3 weeks in vitro, SLC-NGFR was down-regulated but some of the spindle shaped cells had become galC⁺.MAG-SLC first appeared after 5 weeks in vitro but P- glycoprotein was never detected when studied up to 6 weeks. Our data demonstrate that axons induce SLC to down-regulate surface NGFR and to express some myelin components in a qualitatively normal fashion.Supported by National Neurofibromatosis Foundation and by NIH grant NS08075 (B.K.) and by funds from the Dino Ferrari Center, University of Milan, Italy (P.B.)     

神经纤维瘤病中枢神经系统的MRI表现

目的 探讨神经纤维瘤病(NF)的中枢神经系统(CNS)MR表现。方法 回顾性分析10例神经纤维瘤病患的临床资料并对其中枢神经系统MR表现进行分析，所有病例均行常规MR平扫及增强扫描。结果 10例病例中，NF—1型6例，表现为脑内胶质瘤、椎管内神经纤维瘤，4例合并皮肤损害，其中一例有家族史，NF—2型4例，表现为双侧听神经瘤、多发脑膜瘤或神经纤维瘤，皮肤损害少见。所有病例中增强扫描均发现平扫未发现之病灶。结论 MR能很好显示病变的大小、形态及信号特点，对检出神经纤维瘤病中枢神经系统的损害方面有优势，增强扫描可帮助发现平扫未见病灶。     

Uncovering Hereditary Tumor Syndromes: Emerging Role of Surgical Pathology

With the increased use of modern next generation sequencing technologies in routine molecular pathology practice, the proportion of cancer cases with a definite or probable hereditary background seems to be steadily increasing. Currently, it is assumed that ≥10% of all malignancies develop in the setting of germline predisposition. Diagnosis and recognition of cancer predisposition syndromes relies not rarely on distinctive histopathological features that proved to be highly valuable and reproducible in uncovering those diseases that would otherwise have gone undetected by clinicians as being hereditary in nature. This is especially true in case of new mutations without suspicious family history. Example of such entities are fumarate hydratase-deficient renal cell carcinoma (RCC), succinate dehydrogenase-deficient RCC, hereditary gastrointestinal stromal tumor syndromes and many other diseases. It is remarkable that many of these inherited cancer syndromes do present as unifocal disease with highly variable age of onset so that many of them are misinterpreted as sporadic on clinical grounds. Availability of specialized cancer screening programs and disease-specific follow-up schemes for several hereditary cancer syndromes encourages the recognition of such disorders, so that "at risk patients" can be enrolled in such programs for early detection and timely intervention/ treatment of these malignancies which are in the majority of cases aggressive. In several conditions, as in familial adenomatous polyposis coli (FAP), well established prophylactic surgical interventions may be adopted to prevent the disease manifestations, highlighting the importance of the timely recognition of these potentially life-limiting neoplasms. In this review, the clinicopathological, demographic and histological features that are considered highly suggestive of a hereditary basis of "a neoplasm under consideration" are highlighted and discussed briefly. The details of some of these entities are in addition dealt with in reviews devoted to them in this special issue     

Left Ulnar Artery Pseudoaneurysm and Left Hand Swelling Simulated by Elephantiasis in a Patient with Neurofibromatosis Type 1

Elephantiasis is a condition featured by gross enlargement of body parts to massive proportions. Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder. Vascular anomaly is one among the complications of NF1. We report a case of NF1 who had a left hand vascular pseudoaneurysm with left hand swelling mimicking elephantiasis. The characteristics of sonography make it an excellent imaging modality to investigate this sort of superficial vascular lesion.     

An intraosseous malignant peripheral nerve sheath tumor in the mandible of a patient with neurofibromatosis type 1

Malignant peripheral nerve sheath tumors (MPNSTs) are sarcomas that originate in peripheral nerves or neurilemma cells. Here, we report an extremely rare case of an intraosseous MPNST in the mandible of a patient with neurofibromatosis type 1 (NF1). A 57-year-old woman with a history of NF1 was referred to our hospital because she had abnormal sensations at her left mandible. She was diagnosed with MPNST and underwent radical resection, although local recurrence and multiple metastases were detected during follow-up. Despite receiving palliative radiotherapy, the patient died at 13 months after the initial diagnosis.     

中枢型神经纤维瘤病的临床表现与MR影像特征(附4例报告及文献复习)

目的 研究中枢型神经纤维瘤病（神经纤维瘤病2型，NF2）的临床表现与MR影像特征。方法 4例可疑NF2患于临床症状出现或加重后3周至2年内行头颅Gd-DTPA增强前后MRI检查，NF2的MRI诊断得到手术与病理证实。同时，记录了每例患的临床表现。结果 MRI平扫显示，NF2病灶的特征性表现为T1WI上呈低，等信号，而在T2WI上呈高信号，Gd-DTPA增强后，病灶呈明显强化，MRI还证实了4例NF2患均合并脑膜瘤，这些患最常见的症状是进行性耳聋，耳鸣，眩晕，步态不稳。结论 NF2具有恒常的能通过对比增强MR像证实的强化特征，因此，头颅Gd-DTPA增强前后MRI检查应成为诊断MF2的主要手段。