Neurofibromatosis headaches

PURPOSE: The aim of this manuscript was to assess the epidemiology and clinical features of Neurofibromatosis type 1 (NF-1) based on the newly published revised NF-1 diagnostic criteria and to evaluate complications of NF-1 including neurodevelopmental disorders. PATIENTS AND METHODS: A retrospective cross-sectional observational study was conducted in the Ministry of National Guard Health Affairs (MNGHA) healthcare organization branches including four tertiary hospitals and 51 primary health care centers in different regions in Saudi Arabia...

INTRODUCTION AND IMPORTANCE: Dural ectasia, which is often idiopathic, is seen both in patients with neurofibromatosis and Marfan's syndrome. In neurofibromatosis, the ectasia is most often seen in the thoracic region but can occur at any point along the dura. A complication such as cauda equina syndrome is usually rare. CLINICAL PRESENTATION: A 48 year old male complaining of recurrent throbbing headache, for 3 years, 2 years ago he developed progressively lower back pain, associated with numbness and tingling sensation of the lower limbs...

INTRODUCTION: Patients with optic pathway gliomas (OPG) have good survival rates although their long-term quality of life can be affected by the tumor or treatment-related morbidity. This retrospective study sought to describe the clinical presentation and outcomes of children with OPG at a tertiary center in Mexico. METHODS: Consecutive patients <18 years-of-age with newly diagnosed OPG between January 2002 and December 2020 at the Hospital Civil de Guadalajara Dr...

Pheochromocytoma (PPC) and paraganglioma (PGL) are the tumors that rarely occur in the pediatric population (PPGL). Both originate from chromaffin cells, pheochromocytoma is localized in the adrenal gland, whereas paragangliomas are regarded as the tumors present in other localizations, from head to the pelvis. The clinical image is characterized by the presence of the sustained hypertension, headaches, sweating, palpitations. The symptoms are caused by the catecholamine secretion or are related to tumor mass pressure on different organs...

Optic pathway gliomas (OPGs) are the most common pediatric optic nerve tumors. Their behavior ranges between rapid growth, stability, or spontaneous regression. Τhey are characterized by low mortality albeit with significant morbidity. We present the characteristics, management, and outcome of 23 OPG patients (16 females, median age: 4.8 y) managed in a Pediatric Oncology Department in Northern Greece over a 25-year period. Overall, 57% had a background of neurofibromatosis type 1. Diagnosis was based on imaging (10 patients) or biopsy (13 patients)...

Meningeal tumors represent the most common primary central nervous system tumors. The term "multiple meningiomas" or "meningiomatosis" refers to the occurrence of 2 or more spatially separated meningiomas without the features of neurofibromatosis. Meningiomatosis accounts for only less than 10% of all cases and is more prevalent in women. We report a rare case of a 53-year-old female patient complaining of a headache characterized by a throbbing pain in the right side of the head. Neurological examination was largely normal, with the exception of a slight weakening of the right extremity...

The extended transforaminal endoscopic approaches allows visualization and manipulation of the middle and posterior third of the III ventricle. In selected cases where the venous anatomy is favorable, the medial subchoroidal approach can be performed as an alternative to the classic transchoroidal approach (via trans-taenia fornicis) with increased protection over the fornix and without the need to sacrifice the septal vein. We present a 14-year-old male with history of Neurofibromatosis type 1 referred for two weeks of clinical evolution with headache, dizziness, gait instability and appearance of a right VI nerve palsy...

BACKGROUND: Soft-tissue sarcomas are a rare and diverse group of neoplastic lesions. They represent only 1% of malignant tumors in adults and 15% in children. Synovial sarcoma (SS) is a type of soft-tissue sarcoma, accounting for 5-10% of cases, and commonly affecting extremities. Diagnosis, treatment, and prognosis remain challenging especially when localized in uncommon areas, such as intracranial lesions. CASE DESCRIPTION: A 13-year-old male patient with a clinical history of neurofibromatosis Type I (NF1) presenting holocranial headache with jet vomiting and apathy 2 days before admission, without neurological deficits and/or focal findings...

Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by non-atherosclerotic and non-inflammatory progressive narrowing of the intracranial part of the carotid artery and its proximal branches. The disease process is commonly associated with the development of weak, dilated collateral blood vessels at the base of the brain. This gives it a classic smoky appearance on cerebral angiograms and hence the name "Moyamoya" which means "puff of smoke" in Japanese. When a patient has similar vasculopathy in the setting of another disease then it is known as Moyamoya syndrome (MMS)...

Neurofibromatosis type 2 (phacomatosis) is a rare inherited autosomal dominant condition defined by the development of numerous central neuronal tumors. In addition to classic intracranial schwannomas, intracranial and spinal meningiomas, and intramedullary ependymomas, it can be associated with a few cutaneous abnormalities. In this report, we discuss the case of a 21-year-old female who was examined for persistent headache with cutaneous masses and bilateral hearing loss. Magnetic resonance imaging of the cranium and the whole spine detected multiple meningiomas, intracranial, and intramedullary tumors...

BACKGROUND: Neurofibromatosis type 1 (NF-1) is a dominant genetic disorder often accompanied by lesions of the neurovascular system. Patients with NF-1 are predisposed to unique vertebral artery fistula (AVF). CASE DESCRIPTION: We report on a rare case of multiple neurovascular abnormalities in a 47-year-old man with neurofibromatosis. He was admitted due to a sudden headache and was found to have suffered a subarachnoid hemorrhage from a left vertebral arteriovenous fistula...

Malignant Peripheral Nerve Sheath Tumour (MPNST) is a neoplastic lesion rarely reported in literature. In approximately 5% of cases it is associated with Neurofibromatosis type 1 syndrome. Pathognomic features of MPNST include slow growth rate, aggressive nature, nearly circumscribed, unencapsulated arising from non myelinated Schwann cells. In this case report we elaborate probable molecular pathogenesis, clinical features, histopathology (HPE) and radiological findings in a unique case of MPNST. A 52 year old female patient presented with Right cheek swelling, Loss of sensations over right maxillary region, U/L nasal obstruction and watery nasal discharge, palatal buldge and intermittent pain over right maxillary region and generalised headache...

The extended transforaminal endoscopic approach allows visualization and manipulation of the third ventricle posterior structures in a safe and comfortable manner. The medial subchoroidal approach has been described as a feasible alternative to the classical transchoroidal approach. In this video, the authors present the case of a 14-year-old male with a history of neurofibromatosis type 1 who was referred to our department after presenting with headaches and diplopia for 2 weeks. Suspecting an aqueduct tumor, the authors performed an endoscopic surgical procedure through a single approach with third cisternostomy and resection of the tumor that produced the stenosis...

BACKGROUND: Neurofibromatosis type 1 (NF1) is caused by mutations in the NF1 gene on the long arm of chromosome 17, which affects the skin, nervous system, eyes, and skeleton system. Vertebral arteriovenous fistula (AVF) associated with neurofibromatosis type I (NF-1) is rare. CASE PRESENTATION: We report a 31-year-old postpartum woman with NF1 with vertebral arteriovenous fistulae (AVFs). She presented to our hospital because of neck pain, intracranial hypotension headache, and right upper limb weakness...

Cyst formation in the third ventricle and the histopathological findings were rarely reported. We report a similar case of late-onset aqueductal membranous occlusion (LAMO) caused by a thin gliotic cyst and a review of related literature. A 28-year-old woman with enlarged lateral ventricles was referred to our hospital with complaints of headache and dizziness. In our hospital, the obvious cause of the hydrocephalus was unknown on any examination and we decided performing endoscopic third ventriculostomy for hydrocephalus...

PURPOSE OF REVIEW: Headache disorders are often accompanied by associated symptoms involving organ systems other than the central and peripheral nervous system, including the integumentary, cardiovascular, and musculoskeletal system. However, skin changes or conditions are not commonly associated with headache disorders. Recognition of possible etiologies of headache in patients with bruising, rash, or neurocutaneous disorders can help guide workup and management. The purpose of this article is to review the various dermatologic presentations associated with headache...

Background: Cerebellopontine angle tumor (CPA) in pediatrics is rare as compared to adults. We describe a case of pediatric pilocytic astrocytoma presented as a right CPA mass with a concurrent clinical diagnosis of neurofibromatosis type 1 (NF1). Case presentation: A 14-year-old boy with a newly diagnosed hypertension presented with a short history of headache and blurring vision. Neurological examination revealed bilateral papilloedema, partial right third nerve palsy and mild sensorineuronal hearing deficits...

Neurofibromatosis type I (NF1) is an autosomal dominant disease. Some NF1 patients experience atypical clinical manifestations, genetic testing is not widely available, and the types of mutations vary; thus, they are prone to misdiagnosis and missed diagnosis. Although headache is not included in the diagnostic criteria for NF1, the incidence of headache in NF1 patients is not low. We report an NF1 family in which the proband presented with prominent headache and atypical clinical presentation, with limited skin pigmentation...

Moyamoya disease (MMD) is a rare chronic cerebrovascular occlusive disease characterized by progressive stenosis or occlusion of the intracranial internal carotid arteries and their proximal branches, with subsequent abnormally formed collateral vessels. Moyamoya disease is typically found in children of East Asian descent and is the most common pediatric cerebrovascular pathology in East Asian populations. However, moyamoya disease can be present without any predisposing factors, and this is what distinguishes the disease from the syndrome...

Introduction: Neurofibromatosis 1 (NF1) is an inherited disease, in an autosomal dominant manner, with complex multi-system involvements. Prevalence varies from one country to another. However, little is known about neurofibromatosis in African countries, particularly in Madagascar. Methodology: A descriptive retrospective study from 2014 to 2019 was conducted at the service of dermatology at University Hospital Joseph Raseta Befelatanana in Antananarivo, including all patients with neurofibromatosis according to National Institutes of Health Consensus Conference criteria for whom genealogical investigation could be made...