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 2 Presenting with Ptosis

1970 ◽  
Vol 21 (2) ◽  
pp. 174-176
Author(s):  
AHM Tohurul Islam ◽  
SR Tarafdar ◽  
T Rahman Sheik
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Rectus Muscle ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Subcutaneous Nodules ◽  
Distinct Disease ◽  
Rare Symptom ◽  
Superior Rectus Muscle

Neurofibromatosis type 2 (NF 2), formerly called bilateral Acoustic Neurofibromatosis, is a distinct disease, which must be separated clinically and radiologically from Neurofibromatosis type 1. We presented a case of NF 2 of 20-year-old female presented with a rare symptom, rightsided ptosis due to superior rectus muscle paresis, multiple subcutaneous nodules and hearing impairment. doi: 10.3329/taj.v21i2.3801 TAJ 2008; 21(2): 174-176

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,

Successful surgical repair of progressive exophthalmos caused by a meningocele in a patient with neurofibromatosis Type 1

1998 ◽  
Vol 89 (6) ◽  
pp. 1032-1035 ◽  
Author(s):  
Joost de Vries ◽  
Hans Peter M. Freihofer ◽  
Tomas Menovsky ◽  
Johannes R. M. Cruysberg
Keyword(s):  
Visual Acuity ◽  
Neurofibromatosis Type 1 ◽  
Surgical Repair ◽  
Visual Fields ◽  
Neurofibromatosis Type ◽  
Content Type ◽  
Ocular Movements ◽  
Orbital Wall ◽  
The Right

✓ A case of surgical repair of progressive exophthalmos of the right eye in a 43-year-old woman with neurofibromatosis Type 1 (NF1) is presented. Preoperatively, the patient's ocular movements and visual fields were intact. Visual acuity was 20/30 on the right side and 20/20 on the left. Computerized tomography scanning demonstrated complete absence of the superolateral orbital wall on the right side with a large meningocele protruding into the right orbit. Intraoperatively, a new superolateral wall was constructed using the inner table of the left frontal bone as a bone transplant. A free galeoperiosteum flap was used for water-tight dural reconstruction. A few weeks postoperatively the patient's exophthalmos showed remarkable resolution. Her ocular movements, visual acuity, and visual fields remained unchanged. In conclusion, reconstruction of the superolateral wall and repair of a meningocele in a patient with NF1 is worthwhile and can be followed by excellent cosmetic results. More important, the patient's visual functions remain preserved.

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

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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