Metachromatic leukodystrophy: A case report of a child with an equinus deformity

1995 ◽  
Vol 34 (2) ◽  
pp. 206-207
Author(s):  
Richard M. Jay ◽  
Gary Feldman ◽  
Michelle Butterworth ◽  
Denise Casinova
2012 ◽  
Vol 3 (3) ◽  
pp. 71-76
Author(s):  
Mallikarjun K ◽  
Deepak P Bhayya ◽  
Deepesh Singh ◽  
Tarulatha R Shyagali

2004 ◽  
Vol 9 (6) ◽  
pp. 657-661
Author(s):  
Keiko Takehana ◽  
Yoshiharu Kawaguchi ◽  
Kunihiko Kuroda ◽  
Mitsuaki Yamazaki ◽  
Tomoatsu Kimura

1998 ◽  
Vol 133 (1) ◽  
pp. 129-132 ◽  
Author(s):  
Pierre Landrieu ◽  
Stéphane Blanche ◽  
Marie-Thérèse Vanier ◽  
Stéphane Metral ◽  
B. Husson ◽  
...  

2019 ◽  
Vol 2 (2) ◽  
Author(s):  
Abdourahmane Ndong ◽  
O. Thiam ◽  
M. L. Gueye ◽  
A. Diop ◽  
I. S. S. Sarr ◽  
...  

1970 ◽  
Vol 31 (2) ◽  
pp. 143-145 ◽  
Author(s):  
Subhana Karki ◽  
Ganesh Kumar Rai ◽  
Raju Kafle

Metachromatic leukodystrophy (MLD) is an autosomal recessive neurodegenerative disorder characterized by deficient activity of the enzyme arylsulfatase-A. Deficiency of this enzyme results in intralysosomal storage of sphingolipid cerebroside 3-sulfates (sulfatides), which are abundant in myelin and neurons. A pathological hallmark of MLD is demyelination and neurodegeneration, causing various and ultimately lethal neurological symptoms. Its frequency is estimated to be 1/40,000 live births. The disease encompasses three clinical subtypes: late infantile (40% of the patients with MLD), juvenile (40%), and adult (20%).   DOI: 10.3126/jnps.v31i2.4644 J Nep Paedtr Soc 2010;31(2):143-145


1998 ◽  
Vol 19 (2) ◽  
pp. 120-122 ◽  
Author(s):  
Micheál S. Feeney ◽  
Aiden T. Devitt ◽  
Michael M. Stephens

A case of accessory talus is described in which a large ossicle on the medial aspect of the talus had formed an articulation with the distal tibial epiphysis and had produced a fixed equinus deformity of the ankle. We propose that this ossicle, in association with a previously excised accessory toe at the level of the base of the first metatarsal, represents a partial duplication of the medial column of the foot.


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