Atypical inguinal malignant peripheral nerve sheath tumour with arteriovenous fistula of the left femoral nerve in a child

We report a 9-year-old girl who developed a malignant peripheral nerve sheath tumour (MPNST) with an arteriovenous fistula arising from the left femoral nerve and adjacent to the iliofemoral vessels in the ipsilateral groin, but without infiltrating them. We describe the MRI and MRA findings. Although MPNST is relatively well known and widely studied, the location of this mass is unique in a child. The mass was surgically removed.     

Penile malignant peripheral nerve sheath tumour (schwannoma) in a three-year-old child without evidence of neurofibromatosis.

Malignant schwannoma (malignant peripheral nerve sheath tumour, MPNST) is a rare high-grade tumour arising from peripheral nerves. We report the case of a 3-year-old male who presented with a non-tender lesion on the dorsum of his penis. The lesion was excised and a formal circumcision performed. Histology of the lesion revealed a spindle cell tumour. Immunohistochemistry showed the tumour cells to be strongly positive for S100 and Vimentin. A diagnosis of intermediate grade malignant peripheral nerve sheath tumour was made. Malignant schwannoma is rare in children and is previously unreported in the penis in the paediatric age group without evidence of neurofibromatosis.     

Primary malignant peripheral nerve sheath tumor of the lung in a young child without neurofibromatosis type 1

Malignant peripheral nerve sheath tumors (MPNST) are uncommon in children and almost half of the cases occur in patients with neurofibromatosis 1 (NF1). We report a child with a primary MPNST of the lung without NF1. MPNST of the lung has similar clinical and radiologic characteristics as pleuropulmonary blastoma. We suggest to include MPNST of the lung in the differential diagnosis of intrapulmonary masses in children.     

Visual pathway glioma: an erratic tumour with therapeutic dilemmas

OBJECTIVE: Our experience in children with visual pathway glioma (VPG) was reviewed to delineate its clinical characteristics. DESIGN: The charts and imaging studies of 21 children with VPG who were followed up in our centre during the last 12 years were reviewed and summarised. RESULTS: VPG accounted for 13.1% of all brain tumours treated during this period. Sixty two per cent of the children with VPG had neurofibromatosis type 1 (NF-1). Among these, more than 60% were detected as part of routine work up. In some cases decreasing visual function preceded the appearance of the VPG on imaging studies. Tumour growth rate was markedly unpredictable. All treatment modalities employed led to tumour shrinkage and stabilisation for a variable period, but none was successful in totally eradicating the tumour. Complications were less severe after chemotherapy compared with radiotherapy. Three children died, none with NF-1, with a globular hypothalamic/chiasmatic tumour and accompanying electrolyte abnormalities. CONCLUSIONS: NF-1 is a favourable prognostic marker for VPG. Whenever possible a period of observation is necessary before treatment is initiated, during which time tumour size and visual function should be closely followed up; an untoward change in either of these is an indication for the start of treatment, preferably chemotherapy first. The combination of a globular hypothalamic/chiasmatic glioma and electrolyte abnormalities in a child without NF-1 are related to a poor prognosis.     

Congenital apocrine tumour: a rare scalp tumour

We report a rare congenital scalp tumour with histological diagnosis of a congenital apocrine adenoma with features of a tubular adenoma. Following cranial CT and MRI, the tumour was serially excised. The macroscopic and microscopic appearances and management are discussed. To our knowledge, such a case has not been previously reported.     

Neuromuscular hamartoma: imaging features of a rare paediatric craniofacial tumour

Neuromuscular hamartoma (also referred to as neuromuscular choristoma or benign triton tumour) has not previously been described in the radiological literature. It is a rare benign lesion composed of mature elements of striated muscle and neural tissue. We report a case of neuromuscular hamartoma involving the skull base, nasopharynx, orbit and maxilla in a 2.5-year-old child who presented with facial swelling. The CT and MRI appearances of this unusual soft-tissue tumour are emphasized, together with a discussion of the pathological findings, differential diagnosis and review of the literature.     

Visual pathway glioma: an erratic tumour with therapeutic dilemmas

Accepted 12 September 1996
OBJECTIVE—Our experience in children with visual pathway glioma (VPG) was reviewed to delineate its clinical characteristics.
DESIGN—The charts and imaging studies of 21 children with VPG who were followed up in our centre during the last 12 years were reviewed and summarised.
RESULTS—VPG accounted for 13.1% of all brain tumours treated during this period. Sixty two per cent of the children with VPG had neurofibromatosis type 1 (NF-1). Among these, more than 60% were detected as part of routine work up. In some cases decreasing visual function preceded the appearance of the VPG on imaging studies. Tumour growth rate was markedly unpredictable. All treatment modalities employed led to tumour shrinkage and stabilisation for a variable period, but none was successful in totally eradicating the tumour. Complications were less severe after chemotherapy compared with radiotherapy. Three children died, none with NF-1, with a globular hypothalamic/chiasmatic tumour and accompanying electrolyte abnormalities.
CONCLUSIONS—NF-1 is a favourable prognostic marker for VPG. Whenever possible a period of observation is necessary before treatment is initiated, during which time tumour size and visual function should be closely followed up; an untoward change in either of these is an indication for the start of treatment, preferably chemotherapy first. The combination of a globular hypothalamic/chiasmatic glioma and electrolyte abnormalities in a child without NF-1 are related to a poor prognosis.

     

Mesenteric lipoblastoma: case report

We present a rare case of mesenteric lipoblastoma in a 16-month-old girl. The US, CT and MRI features of this unusual tumour are described and correlated with the pathology findings. MRI more clearly suggested the presence of fat components in the tumour. In addition, multiplanar MR images demonstrated the anatomical extent better, which was essential for successful complete tumour excision.     

Imaging in unilateral Wilms tumour

Wilms tumour is one of the most common malignancies in children, with an excellent prognosis after therapy. There is a very diverse approach to treatment according to geographical location. This variation in therapeutic attitude toward Wilms tumour, particularly between the United States and Europe, has consequences for the choice of imaging modality at diagnosis. In Europe, the International Society of Paediatric Oncology (SIOP) treatment protocol is based on chemotherapy followed by surgery. Imaging (US, CT and MRI), clinical history and examination will help predict whether the findings are consistent with Wilms tumour. Furthermore, in the UK preoperative image-guided biopsy is advised to help identify the small group of patients who, despite typical imaging features of Wilms tumour, have other types of neoplasia that require alternative management. In the United States, the National Wilms Tumor Study (NWTS) advises surgery prior to chemo- and radiotherapy. Hence imaging must provide detailed anatomical information for surgical planning. This article discusses the role of imaging at diagnosis and the relative strengths and weaknesses of the available radiological techniques. We also focus on imaging the lung for metastatic disease and the consequences (to the patient’s ultimate outcome) of CT-diagnosed small pulmonary nodules and discuss the radiological diagnosis and consequences of tumour rupture present at diagnosis.     

Malignant Peripheral Nerve Sheath Tumor of Bone in Children and Adolescents

Malignant peripheral nerve sheath tumor (MPNST) of bone is a rare entity. We have examined three lesions that fit standard histopathologic criteria for MPNST of soft tissues but that arose in the skeleton of three children aged 6 to 13 years. None was affected by neurofibromatosis 1 (NF1). Histologic features typical of MPNST included spindle cells with comma-shaped nuclei, tactoid bodies, nuclear palisading, hyaline bands, and schwannoma-like and curlicue foci. Epithelioid foci were seen in two cases, and heterologous differentiation in one. Immunohistochemistry revealed positivity for S-100 (1 positive/3 tested), vimentin (3/3), glial fibrillary acidic protein (2/3), CD34 (1/1), and CD68 (1/2). Studies for CD99 (0/3), epithelial membrane antigen (0/3), cytokeratin (0/3), CD57 (0/3), and HMB-45 (0/2) were negative. Ultrastructural findings in one of two cases examined included interlacing, attenuated cytoplasmic processes, microtubules, and rare dense-core granules. We conclude that MPNST may arise as a primary bone neoplasm in children without NF1. Received February 17, 1998; accepted June 19, 1998.     

Giant malignant nerve sheath tumor of lumbosacral plexus with intraspinal extension in a child with neurofibromatosis type 1

Malignant peripheral nerve sheath tumors (MPNSTs) are the leading cause of death in young adults and are one of the most frequent non-rhabdomyosarcomatous soft tissue tumors in pediatric age. These tumors usually occur in young adults from a previously recognized neurofibroma, neurofibromatosis type 1 (NF1), with a noted change in size and pain. This child reached the age of 10 without the presence of the more commonly seen manifestations of NF1. Pseudoarthrosis in children has a high rate of association with NF1, and in this case diagnosis of NF1 was supported by development of MPNST in a pre-existing plexiform neurofibroma.     

Malignant peripheral nerve sheath tumor: Transformation in a patient with neurofibromatosis type 2

Malignant peripheral nerve sheath tumor (MPNST) is a rare soft‐tissue sarcoma with an unfavorable prognosis and limited therapeutic options. MPNSTs can be sporadic, but are often associated with neurofibromatosis (NF) 1 and usually arise from preexisting neurofibromas. MPNSTs in patients with NF2 have been reported in only exceedingly rare cases, and the mechanisms underlying transformation into an MPNST have not been fully elucidated. Here, we describe the clinicopathological and genomic features of a peripheral nerve sheath tumor (PNST), with a primary diagnosis of a neurofibroma, as it transforms into a high‐grade MPNST in the context of NF2.     

Juvenile granulosa cell tumour (JGCT) of the ovary in a 6-year-old girl: laparoscopic resection achieves long-term oncological success.

Juvenile granulosa cell tumours (JGCT) represent a rare malignancy in childhood and their laparoscopic resection has not been advocated yet. We report on a 6-year-old girl with signs of precocious pseudo-puberty and an abdominal tumour. Work-up revealed premature thelarche, vaginal discharge, elevated estrogen levels, and a solid tumour in the lower pelvis (6 x 4 x 3 cm in MRI). The girl underwent laparoscopy (3 ports, 5-mm instruments), during which a non-invasive, mobile tumour of the left ovary was found. Since all margins of resection could be clearly identified, salpingo-oophrectomy was performed, using the harmonic scalpel for dissection and 5-mm clips to ligate the fallopian tube. Histopathology revealed a JGCT with an intact capsule (FIGO 1 a) which required no further chemotherapy. Within 3 months postoperatively the girl's signs of precocious puberty had resolved and at present, after a follow-up of more than 3 years, there is no evidence of tumour recurrence. Minimally invasive surgery of solid ovarian tumours in children remains controversial. However in the present case, laparoscopic resection did not compromise the surgical and oncological safety.     

Cardiac tumour in a neonate with tuberous sclerosis: echocardiographic demonstration and magnetic resonance imaging

In a neonate with tuberous sclerosis, cardiac tumours were diagnosed by two-dimensional echocardiography and evaluated by electrocardiogram-gated magnetic resonance imaging (MRI). The tumour size, shape and mobility in the ventricular cavities were more precisely determined by two-dimensional echocardiography than electrocardiogramgated MRI, while the extent of tumour mass at the apex was more clearly delineated by MRI. As two-dimensional echocardiography provides real-time imaging of cardiac anatomy without sedation, it is useful for initial evaluation of cardiac masses in neonates with genetic predisposition to tuberous sclerosis.Abbreviation MRI magnetic resonance imaging     

Melanotic neuroectodermal tumour of infancy: CT and MR findings

Background

Melanotic neuroectodermal tumour of infancy (MNTI) is a rare neoplasm of neural crest origin.

Objective

To describe three further cases of MNTI, with emphasis on CT and MRI findings.

Materials and methods

Data for children with histologically confirmed MNTI following biopsy or surgery were retrieved. Three children with available imaging at the time of diagnosis were included in the study.

Results

All three children had primary tumour in the head and neck region: one in the maxilla, one in the occipital bone (extra-axial but with intracranial extension) and one with an unusual tumour growing exophytically from the subcutaneous tissues adjacent to the occipital bone. All tumours were iso/hypointense both on T1- and T2-weighted MRI, and showed marked contrast enhancement in their non-ossified components. CT allowed identification of bone destruction and remodelling.

Conclusion

Our findings are consistent with previously reported cases of MNTI regarding age at presentation and location in the head and neck region. Our MR findings did not demonstrate the typical pattern of T1-shortening expected from melanin deposition.     

Peripheral primitive neuroectodermal tumour of the kidney: CT findings

Peripheral primitive neuroectodermal tumour in the kidney is a rare entity with high malignant potential. The distinctive demographic, clinical and radiological findings, as described in the present case, should suggest this aggressive tumour in the differential diagnosis of renal neoplasms in adolescents. Received: 6 May 1999/Accepted 26 May 2000     

Localized hypertrophic neuropathy of the sciatic nerve in children: MRI findings

Background

Localized hypertrophic neuropathy (LHN) of the sciatic nerve in children is a rare condition characterized by a painless neurological deficit in the sciatic nerve territory.

Objective

To demonstrate the role of MRI using a specific protocol and describe the primary findings in LHN.

Materials and methods

Imaging in four children (age 2?years to 12?years) is presented. All children presented with lower limb asymmetry. Three had a steppage gait. LHN was confirmed by electrophysiological studies and by MRI of the whole sciatic nerve with a dedicated protocol covering the lumbar spine and the lower limb.

Results

There were four direct MRI findings: (1) linear and focal hypertrophy with progressive enlargement of a peripheral nerve or plexus diameter, (2) abnormal hyperintensity of the nerve on T2-weighted images, (3) preserved fascicular configuration, and (4) variable enhancement after intravenous gadolinium administration. In addition there were atrophy and fatty infiltration of innervated muscles. MRI was helpful for determining the extent of lesions and in excluding peripheral nerve compression or tumour.

Conclusion

MRI of the whole sciatic nerve is the method of choice for diagnosing LHN of the sciatic nerve.     

Optic pathway glioma associated with orbital rhabdomyosarcoma and bilateral optic nerve sheath dural ectasia in a child with neurofibromatosis-1

Neurofibromatosis-1 (NF-1) is a multisystem disorder presenting with a variety of clinical and imaging manifestations. Neural and non-neural tumours, and unusual benign miscellaneous conditions, separately or combined, are encountered in variable locations. We present a 2(1/2)-year-old boy with NF-1 who demonstrated coexisting optic pathway glioma with involvement of the chiasm and optic nerve, orbital alveolar rhabdomyosarcoma and bilateral optic nerve sheath dural ectasia.     

Intracranial and mediastinal inflammatory myofibroblastic tumour

Inflammatory myofibroblastic tumour (IMT) is a rare neoplastic condition, commonly known as inflammatory pseudotumour, which is the most frequent primary tumour of the lung in childhood. IMT can have an extrapulmonary location, but is infrequent in the brain and mediastinum, and it is extremely unusual that both lesions appear simultaneously as in our patient. The definitive diagnosis is established by biopsy, but there are some MRI findings that can be useful to identify the lesion. Received: 13 January 2000 Revised: 3 October 2000 Accepted: 20 October 2000