Brain metastasis of Wilms tumor with diffuse anaplasia and complex cytogenetic phenotype in a child with neurofibromatosis Type 1

The authors report the first case of a Wilms tumor (WT) with diffuse anaplasia metastatic to the brain in a 13-year-old girl with a history of neurofibromatosis Type 1. At presentation, the metastatic tumor had radiological features that suggested a meningioma. Histologically it was characterized by striking anaplasia and features similar to the patient's previously resected WT with diffuse anaplasia.

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Neurofibromatosis type 1 with subarachnoid haemorrhage from the left vertebral arteriovenous fistula: case presentation and literature review

BMJ Case Reports ◽

10.1136/bcr-2020-239880 ◽

2021 ◽

Vol 14 (2) ◽

pp. e239880

Author(s):

Toshinori Nishizawa ◽

Takahiro Tsuchiya ◽

Yoshihiro Terasawa ◽

Yasuhiro Osugi

Keyword(s):

Neck Pain ◽

Subarachnoid Haemorrhage ◽

Arteriovenous Fistula ◽

Neurofibromatosis Type 1 ◽

Epidural Haematoma ◽

Neurofibromatosis Type ◽

Sudden Onset ◽

Vertebral Arteriovenous Fistula ◽

First Case

We present the case of a 47-year-old woman with neurofibromatosis type 1 (NF1) with subarachnoid haemorrhage (SAH) from the left vertebral arteriovenous fistula, along with a review of previous cases. Our patient had a family history of NF1 and presented to the emergency department with a sudden-onset severe headache and neck pain. CT scan showed SAH. CT angiography revealed a left vertebral arteriovenous fistula and an epidural haematoma. She underwent direct surgery and was discharged without neurologic deficits. To our knowledge, this is the first case of SAH caused by perimedullary drainage of a vertebral arteriovenous fistula associated with NF1. In a literature search, we identified 40 cases of vertebral arteriovenous fistula associated with NF1. The majority of vertebral arteriovenous fistulas occurred on the left side and in women. Patients with vertebral arteriovenous fistula typically experience neck pain, radiculopathy, radiculomyelopathy and bruits.

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Severe Hypercholesterolemia: A Unique Presentation of Non-Hodgkin’s Lymphoma in a Patient with Neurofibromatosis Type 1

Case Reports in Gastrointestinal Medicine ◽

10.1155/2014/579352 ◽

2014 ◽

Vol 2014 ◽

pp. 1-4 ◽

Cited By ~ 1

Author(s):

Kenechukwu Chudy-Onwugaje ◽

Nnaemeka Anyadike ◽

Yuriy Tsirlin ◽

Ira Mayer ◽

Rabin Rahmani

Keyword(s):

Obstructive Jaundice ◽

Neurofibromatosis Type 1 ◽

Hodgkin’S Lymphoma ◽

Neurofibromatosis Type ◽

Hodgkin's Lymphoma ◽

Initial Manifestation ◽

Non Hodgkin’S Lymphoma ◽

First Case ◽

Non Hodgkin's Lymphoma

We report a case of non-Hodgkin’s lymphoma (NHL) with an unusual initial manifestation as severe hypercholesterolemia and obstructive jaundice in a patient with neurofibromatosis type 1 (NF 1). NHL should be considered in the evaluation of obstructive jaundice alone or in combination with severe hypercholesterolemia. Relief of biliary obstruction led to the resolution of hypercholesterolemia in our 59-year-old male patient, followed by doxorubicin-based chemotherapy for the underlying lymphoma. NF 1 is a genetic condition that results from a defect in a tumor-suppressor gene and it is likely that this led to the development of NHL in our patient. It is important that clinicians are familiar with the gastrointestinal manifestations of NF 1, especially its association with intra-abdominal malignancies, when treating patients with a personal or family history. To the best of our knowledge, this is the first case of NHL presenting initially as severe hypercholesterolemia and it is also one of the few instances where NHL has been reported in association with NF 1.

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Multiple Gastric Gastrointestinal Stromal Tumors in a Patient with Neurofibromatosis Type 1

Case Reports in Surgery ◽

10.1155/2016/1515202 ◽

2016 ◽

Vol 2016 ◽

pp. 1-5

Author(s):

Makoto Tomatsu ◽

Jun Isogaki ◽

Takahiro Watanabe ◽

Kiyoshige Yajima ◽

Takuya Okumura ◽

...

Keyword(s):

Neurofibromatosis Type 1 ◽

Gastrointestinal Stromal Tumors ◽

Kinase Inhibitor ◽

Submucosal Tumor ◽

Neurofibromatosis Type ◽

Stromal Tumors ◽

Serosal Surface ◽

History Of ◽

Small Intestinal

Gastrointestinal stromal tumors (GISTs) are relatively common in neurofibromatosis type 1 (NF 1) patients. Approximately 90% of GISTs associated with NF 1 are located in the small intestine, while sporadic GISTs are most commonly located in the stomach. Here we report an extremely rare case of an NF 1 patient with multiple gastric GITs (90 or more) but without multiple small intestinal tumors. A 63-year-old female patient who had a history of NF 1 underwent surgery for a gastric neuroendocrine tumor and gastric submucosal tumor (SMT). During the operation, multiple small nodules were identified on the serosal surface of the upper stomach. SMT and multiple nodules on the serosal surface were diagnosed as GISTs consisting of spindle cells positive for KIT, CD34, and DOG-1. Both GIST and the normal gastric mucosa showed no mutations not only in the c-kitgene (exons 8, 9, 11, 13, and 17) but also in thePDGFRAgene (exons 12, 14, and 18). This patient is being followed up without the administration of a tyrosine kinase inhibitor.

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Natural history of optic pathway tumors in children with neurofibromatosis type 1: a longitudinal study

Journal of the American Academy of Dermatology ◽

10.1016/0190-9622(95)90025-x ◽

1995 ◽

Vol 33 (1) ◽

pp. 108

Author(s):

Amy S Paller

Keyword(s):

Longitudinal Study ◽

Natural History ◽

Neurofibromatosis Type 1 ◽

Neurofibromatosis Type ◽

Optic Pathway ◽

History Of

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A Rare Case of Hypophosphataemic Osteomalacia in von Recklinghausen Neurofibromatosis

European Journal of Case Reports in Internal Medicine ◽

10.12890/2021_002618 ◽

2021 ◽

Author(s):

Yasmine Makhlouf ◽

Soumaya Boussaid ◽

Houda Ajlani ◽

Samia Jemmali ◽

Sonia Rekik ◽

...

Keyword(s):

Neurofibromatosis Type 1 ◽

Fibroblast Growth Factor 23 ◽

Neurofibromatosis Type ◽

High Dose ◽

Rare Tumour ◽

Appropriate Treatment ◽

History Of ◽

Von Recklinghausen ◽

Hypophosphataemic Osteomalacia

Background: Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a one of the more common hereditary autosomal disorders. However, osteomalacia in neurofibromatosis type 1 is very rare tumour-induced osteomalacia; fibroblast growth factor-23 is usually implicated. Patients and methods: We report the case of a patient with a history of von Recklinghausen neurofibromatosis who presented with hypophosphataemic osteomalacia. Results: The patient was treated with high-dose calcitriol and oral phosphate with clinical improvement. Conclusion: Even though it is a rare entity, we must consider the diagnosis of hypophosphataemic osteomalacia in patients with neurofibromatosis in order to deliver appropriate treatment.

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Establishing the diagnosis neurofibromatosis type 1: A rare case

Dermatology Reports ◽

10.4081/dr.2019.8092 ◽

2019 ◽

Author(s):

Dyatiara Devy ◽

D. Damayanti

Keyword(s):

Neurofibromatosis Type 1 ◽

De Novo ◽

Malignant Tumors ◽

Neurofibromatosis Type ◽

The Body ◽

Multisystem Disorder ◽

Wide Range ◽

Multidisciplinary Clinic ◽

History Of

Neurofibromatosis type 1 (NF1) or Von Recklinghausen's disease is a dominantly inherited genetic, multisystem disorder. Individuals with neurofibromatosis type 1 are prone to develop benign and malignant tumors of the CNS and peripheral nervous system, in addition to malignant diseases affecting other parts of the body. About 50% of individuals with neurofibromatosis type 1 have no family history of the disease and the disease is due to de novo (spontaneous) mutations. Early diagnosis is challenging because of its extremely variable characteristics. Some individuals may be mildly affected showing minimal signs, whereas others are severely afflicted. Individuals with NF-1 are best cared for within a multidisciplinary clinic, which has access to a wide range of subspecialists. The dermatologist has a role not only in the diagnosis of NF1 and differentiating it from other similar disorders, but also in the recognition of rare associated skin manifestations.

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