Pneumosinus dilatans of the spheno-ethmoidal complex associated with hypovitaminosis D causing bilateral optic canal stenosis

2017 ◽  
Vol 33 (6) ◽  
pp. 1005-1008 ◽  
Author(s):  
Saritha Aryan ◽  
Sumit Thakar ◽  
Aniruddha T. Jagannatha ◽  
Chandrakiran Channegowda ◽  
Arun S. Rao ◽  
...  
2018 ◽  
Vol 3 (1) ◽  
pp. e000180 ◽  
Author(s):  
Wenhong Cao ◽  
Wenbin Wei ◽  
Qian Wu

ObjectiveTo evaluate the ophthalmic phenotypes associated with T-cell immune regulator 1 (TCIRG1) mutations in Chinese patients with infantile malignant osteopetrosis (IMO).Methods and analysis27 Chinese TCIRG1-related osteoporosis infants were enrolled using direct DNA sequencing of PCR-amplified exons. 12 cases had frameshift mutation (the frameshift mutation group, group F), and 15 cases had point mutation (the point mutation group, group P). The clinical features of the two groups were compared, including age at onset, gaze qualities, optic atrophy, optic canal stenosis and waveforms of Flash visual-evoked potential (FVEP).ResultsThe clinical signs, except age at onset and FVEP, showed statistically significant differences between the two groups. The mean age at onset was 1.8 months in group F and 4.3 months in group P; 22 eyes (92%) with frameshift mutation and 16 (53%) with point mutation had poor gaze qualities, such as nystagmus and/or strabismus; optic atrophy was found in 16 eyes (67%) in group F and 6 (20%) in group P; the average optic canal diameter was 1.45  mm in the frameshift mutation cases, 1.87  mm in other cases; FVEP indicated that the waveforms in 10 eyes (42%) were not elicited in group F, yet five eyes (17%) in group P.ConclusionIn Chinese TCIRG1-related patients of IMO, the optic canal stenosis and optic atrophy were more serious in cases with frameshift mutations. However, no differences in the conduction block of optic nerve were found between the two groups.


2000 ◽  
Vol 130 (3) ◽  
pp. 370-372 ◽  
Author(s):  
Natalie C Kerr ◽  
Winfred C Wang ◽  
Yasaman Mohadjer ◽  
Barrett G Haik ◽  
Sue C Kaste ◽  
...  

2005 ◽  
Vol 103 (5) ◽  
pp. 917-919 ◽  
Author(s):  
Takeo Baba ◽  
Yoshihiro Minamida ◽  
Takeshi Mikami ◽  
Izumi Koyanagi ◽  
Kiyohiro Houkin

✓ The authors report on the case of a 14-year-old boy who presented with bilateral visual impairment due to optic canal stenosis caused by hyperplasia of the bone marrow arising from anemia. The patient had hereditary hemolytic anemia with unstable hemoglobin of the Christchurch type. This congenital form of anemia caused hyperplasia of the bone marrow as well as hyperostosis of the entire calvarial bone, which in turn led to optic canal stenosis. The patient underwent surgical decompression of the optic canal, resulting in significant improvement in visual acuity. Pathological findings in the calvarial bone indicated hypertrophic bone marrow with no other specific features such as neoplastic pattern or fibrous dysplasia. With the exception of objective hearing impairment, no other significant cranial neuropathy has been detected thus far. On reviewing the published literature, this case was found to be the first in which hyperostosis due to congenital anemia resulted in symptomatic entrapment neuropathy of the optic nerve. The authors concluded that surgical decompression effectively improves visual acuity.


2001 ◽  
Vol 10 (5) ◽  
pp. 1-8 ◽  
Author(s):  
Aaron S. Dumont ◽  
Paul T. Boulos ◽  
John A. Jane ◽  
Dilantha B. Ellegala ◽  
Steven A. Newman ◽  
...  

Fibrous dysplasia is a benign but slowly progressive disorder of bone in which normal cancellous bone is replaced by immature woven bone and fibrous tissue. Significant deformity and both acute and chronic visual impairment can result. A contemporary understanding of fibrous dysplasia, emphasizing the origins of visual impairment, indications for decompressive surgery, and the techniques for correction of the cosmetic deformity are presented. In their experience and review of the literature, the authors found the most frequent clinical presentations to be exophthalmos, displacement of the globe, abnormalities of extraocular motility, cosmetic deformity, and visual impairment. Although traditionally the cause of visual impairment has been ascribed to impingement of the optic canal on the optic nerve, the authors' experience is that the most common cause of visual loss is cystic degeneration of the tumor, particularly with those involving the anterior clinoid process. Exophthalmos and optic canal stenosis are less common causes of visual impairment. Indications for surgical intervention include acute and/or serially radiographically documented and relentless visual impairment and significant cosmetic deformity. Individualized management strategies are also discussed.


1982 ◽  
Vol 22 (4) ◽  
pp. 207-210 ◽  
Author(s):  
L. W. Hirst ◽  
N. R. Miller ◽  
F. J. Hodges ◽  
J. J. Corbett ◽  
S. Thompson

2020 ◽  
Vol 90 (3-4) ◽  
pp. 195-199 ◽  
Author(s):  
Gaelle Chevallereau ◽  
Mathilde Legeay ◽  
Guillaume T. Duval ◽  
Spyridon N. Karras ◽  
Bruno Fantino ◽  
...  

Abstract. Despite the high prevalence of hypovitaminosis D in older adults, universal vitamin D supplementation is not recommended due to potential risk of intoxication. Our aim here was to determine the clinical profiles of older community-dwellers with hypovitaminosis D. The perspective is to build novel strategies to screen for and supplement those with hypovitaminosis D. A classification tree (CHAID analysis) was performed on multiple datasets standardizedly collected from 1991 older French community-dwelling volunteers ≥ 65 years in 2009–2012. Hypovitaminosis D was defined as serum 25-hydroxyvitamin D ≤ 50 nmol/L. CHAID analysis retained 5 clinical profiles of older community-dwellers with different risks of hypovitaminosis D up to 87.3%, based on various combinations of the following characteristics: polymorbidity, obesity, sadness and gait disorders. For instance, the probability of hypovitaminosis D was 1.42-fold higher [95CI: 1.27–1.59] for those with polymorbidity and gait disorders compared to those with no polymorbidity, no obesity and no sadness. In conclusion, these easily-recordable measures may be used in clinical routine to identify older community-dwellers for whom vitamin D supplementation should be initiated.


Author(s):  
Jeniffer Danielle M. Dutra ◽  
Quelson Coelho Lisboa ◽  
Silvia Marinho Ferolla ◽  
Carolina Martinelli M. L. Carvalho ◽  
Camila Costa M. Mendes ◽  
...  

Abstract. Some epidemiological evidence suggests an inverse correlation between non-alcoholic fatty liver disease (NAFLD) frequency and vitamin D levels. Likewise, a beneficial effect of vitamin D on diabetes mellitus (DM) and insulin resistance has been observed, but this is an unsolved issue. Thus, we aimed to investigate the prevalence of hypovitaminosis D in a NAFLD Brazilian population and its association with disease severity and presence of comorbidities. In a cross-sectional study, the clinical, biochemical and histological parameters of 139 NAFLD patients were evaluated according to two different cut-off points of serum 25-hydroxyvitamin D levels (20 ng/mL and 30 ng/mL). The mean age of the population was 56 ± 16 years, most patients were female (83%), 72% had hypertension, 88% dyslipidemia, 46% DM, 98% central obesity, and 82% metabolic syndrome. Serum vitamin D levels were < 30 ng/mL in 78% of the patients, and < 20 ng/mL in 35%. The mean vitamin D level was 24.3 ± 6.8 ng/mL. The comparison between the clinical, biochemical and histological characteristics of the patients according to the levels of vitamin D showed no significant difference. Most patients with NAFLD had hypovitaminosis D, but low vitamin D levels were not related to disease severity and the presence of comorbidities.


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