A Case of Neurofibromatosis type 1 with Moya Moya Disease

Pulse ◽  
2018 ◽  
Vol 10 (1) ◽  
pp. 34-37
Author(s):  
SJ Bhuiyan
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
The Body ◽  
Global Developmental Delay ◽  
Optic Glioma ◽  
Left Middle Cerebral Artery ◽  
Café Au Lait Spots ◽  
Moya Moya Disease ◽  
The Right

A 5 years old boy with multiple café au lait spots came with intermittent weakness of the right side of the body and seizures. The child had global developmental delay. His MRI and MRA showed thickening of the optic nerves, abnormal signal in multiple areas of the brain with non-visuation of the left middle cerebral artery. The child was diagnosed to have neurofibromatosis type 1 with seizures with bilateral optic glioma with Moya Moya disease.Pulse Vol.10 January-December 2017 p.34-37

Bilateral Congenital Pseudarthrosis of the Tibia with Neurofibromatosis Type 1: Case Report and Literature Review

2021 ◽  
pp. 1-9
Author(s):  
Bunyamin Ari ◽  
Sabit Numan Kuyubasi ◽  
Admin
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Correction Osteotomy ◽  
Pathological Fractures ◽  
Café Au Lait Spots ◽  
The Right ◽  
Fibular Grafting ◽  
Gene Mutation Analysis

Congenital pseudoarthrosis of the tibia (CTP) is a pathology characterized by dysplasia and pathological fractures in the tibia which fail to heal on its own. Its relationship with neurofibromatosis type 1 is already known. A very rare case; an 13 year old child diagnosed with NF1, accompanying bilateral CTP was presented in this article. She also had occasional blood pressure attacks and café au lait spots. She was diagnosed with NF, by gene mutation analysis and the BT results reported that pseudoarthrosis affected both tibiae. The patient was successfully treated by performing fibular grafting and external fixation operation of the tibia with internal and Ilizarov technique. Correction osteotomy was performed and grafted with 20 cc synthetic bone graft on the part of the right tibia where the bowing deformity was observed; the left tibia was not osteotomized as the bowing deformity was slighter. As a result of the 13-month follow-up,

scholarly journals MON-072 A 2 -Year Old Girl with Turner Syndrome and Neurofibromatosis Type 1

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Eleni Dermitzaki ◽  
Emmanouil Manolakos ◽  
Panagiotis Tagalakis ◽  
Kleanthis Kleanthous ◽  
Dimitrios T Papadimitriou
Keyword(s):  
Optic Nerve ◽  
Short Stature ◽  
Turner Syndrome ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Gene Panel ◽  
The Body ◽  
Nf1 Gene ◽  
The Right

Abstract Introduction: Turner syndrome (TS) occurs due to loss of either all or part of the X chromosome, in some or all the cells of the body. The most consistent features of TS are short stature and premature ovarian failure. Neurofibromatosis type 1 (NF1) is an inheritable in an autosomal dominant manner tumor predisposition syndrome and is caused by loss-of-function mutations in the tumor suppressor NF1 gene (neurofibromin 1). Literature review indicated rare cases with NF1 and TS (1). We report the sixth girl with mosaic TS and NF1 who presented with optic nerve glioma. Case report: A 2-year-old female presented to us due to short stature. Her height was 2,5 SD lower than the mean parental height curve, and her bone age was delayed only by 3 months. She already had a normal (46XX) peripheral blood karyotype (70 mitoses). She had abnormal body proportions and with short limbs with unremarkable café au lait spots. Additionally, to the short stature laboratory investigation we ordered a gene panel to exclude hypochondroplasia, and a Karyotype in fibroblasts culture from oral cavity sample. The results revealed low IGF-1 and mosaic TS in 14%. We preformed 2 provocative tests which revealed low growth hormone peak < 5 ng/ml. A brain and pituitary MRI to exclude pituitary lesions or structural abnormalities revealed gliomas of the optic chiasma and the right optic nerve with characteristic NF1 “spots” (regions of signal abnormality in T2 sequences) involving the basal ganglia, cerebellum and the right temporal lobe. DNA sequencing targeted to a gene panel related to NF1 and NF2 revealed a novel de novo heterozygous NF1 gene mutation in exon 28 [3764Α>G];[=]p.[Gln1255Arg]. Discussion: NF1- Gliomas are most commonly seen in young children, (mean 4.5 years). Only 1/3 of affected children will require therapeutic intervention. However early diagnosis, of optic gliomas is important. Our patient was completely asymptomatic by the time of diagnosis and no other symptom or sign of NF1 was apparent. Ophthalmologic examination was normal, but visual electrophysiologic testing was abnormal as far the right optic nerve is concerned. The oncology team decided to preform chemotherapy. In TS impaired growth is related to resistance in GH. Some studies suggested that there could be a relationship between GHD and NF1 even in the absence of an organic pituitary damage. In our patient it has been decided not to treat with GH and closely track the patient’s growth. Conclusion: Coexistence of NF1 with TS is rare. Awareness is needed as early identification and treatment of CNS gliomas can prevent visual loss and severe co-morbidities. 1. Rare Presentation of Neurofibromatosis and Turner Syndrome in a Pediatric Patient. Pediatr Rep. 2017 Jun 26; 9(2): 6810

scholarly journals Equatorial Staphyloma Associated with Neurofibromatosis Type 1

2016 ◽  
Vol 7 (2) ◽  
pp. 384-388
Author(s):  
Yoshiaki Shimada ◽  
Masayuki Horiguchi
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Rectus Muscle ◽  
Neurofibromatosis Type ◽  
Resonance Imaging ◽  
Ocular Movements ◽  
Café Au Lait Spots ◽  
Weighted Magnetic Resonance Imaging ◽  
The Right ◽  
Superior Rectus Muscle

We report a case of a 38-year-old man who presented with a recently self-detected lump under his left eyebrow. Previous ophthalmological history was unremarkable except for unilateral high myopia (left eye) since childhood. The appearance of the left eye was seemingly normal; however, with the top lid pulled up on downward gaze, a dark brown bulge emerged. The bulge was 10 × 7 mm and approximately 4 mm in height, and was covered by the extended superior rectus muscle. The diagnosis of equatorial staphyloma was made after coronal T1-weighted magnetic resonance imaging of the orbit revealed the dilatation of the vitreous cavity. Ocular movements were fully maintained and visual acuity was largely spared: 20/15 in the right eye without correction and 20/25 in the left eye with –10.00 spheres and –4.00 × 80 degrees cylinders. His past and family histories were unremarkable; however, small neurofibromas and café au lait spots all over his body led to the diagnosis of neurofibromatosis type 1 (NF1). From this case, similar to previous reports, we suggest that manifestations of NF1 are extremely variable and unpredictable.

scholarly journals Neurofibromatosis type-1 with seizures and cerebrovascular malformation: a case study

2020 ◽  
Vol 7 (9) ◽  
pp. 1933
Author(s):  
Nishant Gopaal ◽  
Jagdish N. Sharma ◽  
Priyanshu Mathur ◽  
Vijay Agarwal ◽  
Laxman Jadoun
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Venous Blood ◽  
Neurofibromatosis Type ◽  
Female Child ◽  
Clinical Findings ◽  
The Body ◽  
Café Au Lait Spots ◽  
Cerebrovascular Malformation

Neurofibromatosis type 1 (NF1) is the most common autosomal dominant neurocutaneous among humans. Epilepsy is more prevalent in NF1 patients than in the general population. NF1 vasculopathy is also a significant but underrecognized complication of the disease, affecting both arterial and venous blood vessels. Herein, we report a 2 year old female child with seizures and multiple cafe-au-lait spots on the body. The patient was diagnosed with NF1 based on clinical findings and family history. MRI Brain revealed middle cerebral artery dysplasia. Here we discuss diagnostic and treatment challenges and briefly reviews the existing literature.

scholarly journals Dissociated Deficits between Explicit and Implicit Empathetic Pain Perception in Neurofibromatosis Type 1

2021 ◽  
Vol 11 (12) ◽  
pp. 1591
Author(s):  
Hai Xue ◽  
Qiong Wu ◽  
Zhijun Yang ◽  
Bo Wang ◽  
Xingchao Wang ◽  
...  
Keyword(s):  
Cognitive Deficits ◽  
Neurofibromatosis Type 1 ◽  
Pain Perception ◽  
Neurofibromatosis Type ◽  
Brain Network ◽  
The Body ◽  
Network Activity ◽  
Lower Accuracy ◽  
High Level

Cognitive impairments and social-function deficits are severe complaints in neurofibromatosis type 1 (NF1) patients. Empathetic pain perception may be disrupted in NF1 patients because of high-level cognitive deficits. This study investigated the empathy profiles of adult patients with NF1, especially concerning whether explicit and implicit empathetic pain perception are abnormal in this population. We examined empathetic pain perception through a paradigm based on perceiving another person’s pain; in this task, patients were required to make judgments about the presence of pain or the laterality of the body part, as shown in a picture. Twenty NF1 patients without obvious social or communication difficulties completed the task, and the results were compared with results from the normal controls (NCs). Regarding explicit empathetic pain processing, i.e., judging the presence of “pain” or “no pain”, there were no significant differences between patients and controls in accuracy or reaction time. However, in implicit empathetic processing, i.e., judging the laterality of “pain” or “no-pain” pictures, NF1 patients had significantly lower accuracy (p = 0.038) and significantly higher reaction times (p = 0.004) than the NCs. These results were consistent with those of a previous study showing that high-level cognitive deficits were prominent in NF1 patients when performing challenging tasks. The mechanisms and related brain network activity underlying these deficits should receive attention in the future.

Hypophosphatemic Osteomalacia associated with Neurofibromatosis Type-1: A case report and literature review

2020 ◽  
pp. 1-3
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Bone Matrix ◽  
Neurofibromatosis Type ◽  
Lower Limbs ◽  
Laboratory Evaluation ◽  
Lumbosacral Spine ◽  
Café Au Lait Spots ◽  
Hypophosphatemic Osteomalacia ◽  
Subcutaneous Mass

Introduction: Skeleton abnormalities are not uncommon in neurofibromatosis type-1 (NF1), which usually manifest as congenital malformations, such as scoliosis and sphenoid wing dysplasia. However, very rare cases of NF1 have been associated with hypophosphatemic osteomalacia (HO), which is characterized with later onset in adulthood, severe hypophosphatemia and disorder of the mineralization of organic bone matrix. Patient concerns: Here we reported a rare case of a 29-year-old woman presented with weakness and pain in lower limbs for 18 months and aggravated for half a year. On physical examination, her lower limbs’ myodynamia reduced and tenderness in multiple bone areas was detected. Light brown patches and scattered nodules could be seen on her skin, and a soft subcutaneous mass was found in the low back. Laboratory evaluation showed hypophosphatemia. Bone ECT suggested multiple abnormal bone metabolism and MRI scan of lumbosacral spine revealed numerous fractures. Neuroimaging indicated the neurofibromas, and then the biopsy of the subcutaneous lump confirmed neurofibromatosis. Diagnosis: HO associated with NF1 was diagnosed, based on the presence of café-au-lait spots and the results of bone ECT scan and biopsy. Interventions: The patient was treated with oral calcitriol, calcium carbonate d3 and phosphorus, as well as intramuscular carbocalcitonin. Outcomes: During hospitalization, her serum phosphorus level increased and symptoms improved. Conclusion: The case reported here calls attention to that when NF1 patients manifested with weakness and neurology diseases have been excluded, HO should be taken into consideration.

Chronic spontaneous diploic hematoma

2011 ◽  
Vol 114 (6) ◽  
pp. 1812-1817 ◽  
Author(s):  
José González-Tortosa ◽  
Javier Ros de San Pedro ◽  
Guillermo Parrilla ◽  
Belen Ferri-Ñiguez ◽  
Juan F. Martínez-Lage
Keyword(s):  
Osteolytic Lesion ◽  
Venous Drainage ◽  
Neurofibromatosis Type ◽  
Parietal Bone ◽  
Café Au Lait Spots ◽  
Skull Radiography ◽  
Left Parietal Bone ◽  
Cortical Venous Drainage ◽  
The Right

The authors report the case of a 23-year-old woman with café-au-lait spots and axillary and inguinal freckling who presented with a diploic chronic spontaneous hematoma of the left parietal bone. To the authors' knowledge, this case represents the first description of a diploic hematoma in a patient with stigmata of neurofibromatosis Type 1 unrelated to head trauma. Plain skull radiography showed an osteolytic lesion with well-circumscribed margins, corresponding to the hematoma, together with exuberant perilesional vascular markings. Angiography demonstrated an incidental aneurysm of the left supraclinoidal internal carotid artery and an unusual cortical venous drainage toward the diploic vessels. The blood flow of these vessels on the right hemicranium was sluggish and exhibited enlarged diploic venous lacunas. The authors hypothesize that the hematoma was formed by both an abnormal venous drainage toward the diploic vascular net, together with a vasculopathy that caused stenosis and obstruction of the normal drainage pathways from these vessels.

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