Oro facial digital syndrome type 2- An Indian case report

2016 ◽  
Vol 3 (4) ◽  
pp. 115
Author(s):  
Naresh Bansal ◽  
Ashok Gupta ◽  
Manisha Goyal ◽  
Manish Sharma ◽  
Priyanshu Mathur ◽  
...  
Keyword(s):  
2021 ◽  
Vol 11 (4) ◽  
Author(s):  
Daisuke Nakagawa ◽  
Keisuke Oe ◽  
Tomoaki Fukui ◽  
Ryosuke Kuroda ◽  
Takahiro Niikura

Introduction: Hypophosphatemic osteomalacia can be overlooked or confused with other musculoskeletal disorders due to the variety of associated clinical, laboratory, and radiographic findings. If osteomalacia is diagnosed early and the fractures are not displaced, they often heal with nutritional supplements, but, if they progress to displaced fractures, they may require surgical intervention. Case Report: We present a case of secondary osteomalacia due to autoimmune polyendocrine syndrome Type 2 due to this condition, the patient developed bilateral tibial proximal fractures and her varus deformity had progressed. No clear indication of the timing for surgery for adults with osteomalacia has been reported. However, medical treatment improves the symptoms of osteomalacia and it is reported that in children, appropriate level of the serum phosphate (P) should be attained and maintained for the successful bone healing after osteotomy. Therefore, we prioritized pharmacological treatment and prescribed surgery after confirming that the value of serum phosphate P had been improved to recommended levels (2.5-3.5 mg/dl). We performed high tibial osteotomy for the right side and gradual correction by an external fixation for the left tibia, because of more severe deformation, and converted to an internal fixation to shorten the treatment period. During conversion, we performed the operation with a locking plate by the minimal invasive plate osteosynthesis method (MIPO). Conclusion: We conclude that the use of different deformity correction methods, depending on the degree of deformity, and the pharmacological treatment of osteomalacia may lead to favorable results. Keywords: Osteomalacia, autoimmune polyendocrine syndrome type 2, deformity correction method.


2019 ◽  
Vol 27 (124) ◽  
pp. 47-51
Author(s):  
Shahin Besharati ◽  
Pouria Tavakkolian ◽  
Roghayeh Borji ◽  
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...  

2015 ◽  
Vol 9 (1) ◽  
Author(s):  
Nikolaos Bounakis ◽  
Christos Karampalis ◽  
Hilary Sharp ◽  
Athanasios I Tsirikos

2008 ◽  
Vol 41 (10) ◽  
pp. 839-848 ◽  
Author(s):  
I.P. Meschede ◽  
T.O. Santos ◽  
T.C. Izidoro-Toledo ◽  
J. Gurgel-Gianetti ◽  
E.M. Espreafico

2012 ◽  
Vol 69 (4) ◽  
pp. 358-362 ◽  
Author(s):  
Radoslav Pejin ◽  
Edita Stokic ◽  
Mile Novkovic ◽  
Sofija Banic-Horvat ◽  
Milan Cvijanovic

Introduction. Autoimmune polyglandular syndrome type 2 is defined as adrenal insufficiency associated with autoimmune primary hypothyroidism and/or with autoimmune type 1 diabetes mellitus, but very rare with myasthenia gravis. Case report. We presented a case of an autoimmune polyglandular syndrome, type 2 associated with myasthenia gravis. A 49-year-old female with symptoms of muscle weakness and low serum levels of cortisol and aldosterone was already diagnosed with primary adrenal insufficiency. Primary hypothyroidism was identified with low values of free thyroxine 4 (FT4) and raised values of thyroidstumulating hormone (TSH). The immune system as a cause of hypothyroidism was confirmed by the presence of thyroid antibodies to peroxidase and TSH receptors. Myasthenia gravis was diagnosed on the basis of a typical clinical feature, positive diagnostic tests and an increased titre of antibodies against the acetylcholine receptors. It was not possible to confirm the immune nature of adrenal insufficiency by the presence of antibodies to 21- hydroxylase. The normal morphological finding of the adrenal glands was an indirect confirmation of the condition as well as the absence of other diseases that might have led to adrenal insufficiency and low levels of both serum cortisol and aldosterone. Hormone replacement therapy, anticholinergic therapy and corticosteroid therapy for myasthenia gravis improved the patient?s general state of health and muscle weakness. Conclusion. This case report indicates a need to examine each patient with an autoimmune disease carefully as this condition may be associated with another autoimmune diseases.


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