scholarly journals Case report of early biotinidase deficiency, a type of multiple carboxylase deficiency

2021 ◽  
Vol 8 (7) ◽  
pp. 1290
Author(s):  
Cheruku Rajesh ◽  
N. Shivaramakrishna Babji ◽  
Mohammed Ashraf Mohiddin Siddiq

Early biotinidase deficiency is an inherited form of multiple carboxylase deficiency leading to increased accumulation of biocytin and decreased biotin, predominantly effecting the central nervous system and skin. The symptoms can be reversed by early biotin supplementation.

2021 ◽  
Vol 21 ◽  
pp. S437-S438
Author(s):  
Carine Ribeiro Franzon ◽  
Andressa Oliveira Martin Wagner ◽  
Annelise Correa Wengerkievicz Lopes ◽  
Douglas Gebauer Bona ◽  
Talita Bertazzo Schmitz

2014 ◽  
Vol 54 (9) ◽  
pp. 709-714
Author(s):  
Taro Okunomiya ◽  
Takashi Kageyama ◽  
Kanta Tanaka ◽  
Daisuke Kambe ◽  
Akiyo Shinde ◽  
...  

1998 ◽  
Vol 84 (3) ◽  
pp. 408-411 ◽  
Author(s):  
Maria Laura Del Basso De Caro ◽  
Antonella Siciliano ◽  
Paolo Cappabianca ◽  
Alessandra Alfieri ◽  
Enrico de Divitiis

Paragangliomas are usually benign tumors which can be found in many sites of the body, from the base of the skull down to the pelvic floor. In the central nervous system the sellar region is very rarely involved; only three well studied cases have been reported to date. We present the cytological, histological, histochemical, immunocytochemical and ultrastructural features of an intrasellar and suprasellar paraganglioma in an 84-year-old man.


2014 ◽  
Vol 4 (1) ◽  
pp. 52-55
Author(s):  
R Habib ◽  
SB Mizan ◽  
A Rahman ◽  
NB Bhowmik ◽  
A Haque

Most clinicians consider a peripheral nerve lesion in patients with drop foot. However, causes stemming from the central nervous system represent rare, important, and underappreciated differential etiologies. Central causative lesions usually occur at locations where pyramidal tract connections are condensed and specific and the function is somatotopically organized. Here we report case presenting as central foot drop or spastic foot-drop and other myriad clinical features which after investigations was found due to bilateral parasagittal meningiomas. DOI: http://dx.doi.org/10.3329/birdem.v4i1.18559 Birdem Med J 2014; 4(1): 52-55


2014 ◽  
Vol 9 (4) ◽  
pp. 55-58
Author(s):  
R Adhikari ◽  
A Tayal ◽  
PK Chhetri ◽  
B Pokhrel

The involvement of central nervous system in children with typhoid fever is common. Acute disseminated encephalomyelitis is a rare immune mediated and demyelinating disease of the central nervous system that usually affects children. We report a 7-year-old child with typhoid fever who developed acute cerebellar syndrome due to acute disseminated encephalomyelitis.Journal of College of Medical Sciences-Nepal, 2013, Vol-9, No-4, 55-58 DOI: http://dx.doi.org/10.3126/jcmsn.v9i4.10237


2019 ◽  
Vol 7 ◽  
pp. 2050313X1882382 ◽  
Author(s):  
Yassein Shamout ◽  
Alissa Sigal ◽  
Ivan V Litvinov

Minocycline is a medication commonly used for the treatment of acne vulgaris. The central nervous system-induced side effects of minocycline include headaches, pseudotumor cerebri, ataxia, and vestibular dysfunction. Many minocycline-related side effects have been presented in the literature, however, reports of depersonalization symptoms induced by the medication are rare. We present the case of a 37-year-old female diagnosed with perioral dermatitis treated with minocycline, who within 1 week suffered from severe depersonalization symptoms. The pathophysiologic mechanism of depersonalization induced by minocycline is unclear but various hypotheses include hypersensitivity of the serotonin system, drug-related metabolic encephalopathy, substance-induced temporal disintegration, and panic-disorder-related etiology. Depersonalization is a potentially severe and important side effect of minocycline that should be documented, further investigated, and recognized by clinicians.


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