Metachromatic leukodystrophy – a case report of autistic features as a possible onset presentation

2018 ◽  
Author(s):  
Roxana Daniela Neacsu ◽  
Anca Cerlinca ◽  
Ilinca Mihailescu
Keyword(s):  
Case Report ◽  
Metachromatic Leukodystrophy

Metachromatic Leukodystrophy: A Rare Case Report

2012 ◽  
Vol 3 (3) ◽  
pp. 71-76
Author(s):  
Mallikarjun K ◽  
Deepak P Bhayya ◽  
Deepesh Singh ◽  
Tarulatha R Shyagali
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Metachromatic Leukodystrophy ◽  
Rare Case Report

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
Keyword(s):  
Case Report ◽  
Metachromatic Leukodystrophy ◽  
Equinus Deformity

Bone marrow transplantation in metachromatic leukodystrophy caused by saposin-B deficiency: A case report with a 3-year follow-up period

1998 ◽  
Vol 133 (1) ◽  
pp. 129-132 ◽  
Author(s):  
Pierre Landrieu ◽  
Stéphane Blanche ◽  
Marie-Thérèse Vanier ◽  
Stéphane Metral ◽  
B. Husson ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Case Report ◽  
Bone Marrow Transplantation ◽  
Marrow Transplantation ◽  
Metachromatic Leukodystrophy ◽  
Saposin B

scholarly journals Metachromatic Leucodystrophy: A Case Report

1970 ◽  
Vol 31 (2) ◽  
pp. 143-145 ◽  
Author(s):  
Subhana Karki ◽  
Ganesh Kumar Rai ◽  
Raju Kafle
Keyword(s):  
Case Report ◽  
Autosomal Recessive ◽  
Metachromatic Leukodystrophy ◽  
Neurodegenerative Disorder ◽  
Neurological Symptoms ◽  
Arylsulfatase A ◽  
Live Births ◽  
Metachromatic Leucodystrophy ◽  
Deficient Activity

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

scholarly journals Adult metachromatic leukodystrophy: case report

2021 ◽  
Vol 13 (2) ◽  
pp. 86-90
Author(s):  
T. I. Prusova ◽  
P. A. Reznichenko ◽  
K. D. Yakovleva ◽  
D. V. Dmitrenko
Keyword(s):  
Case Report ◽  
Metachromatic Leukodystrophy ◽  
Adult Metachromatic Leukodystrophy

scholarly journals Case Report on Metachromatic Leukodystrophy

2020 ◽  
Vol 65 (2) ◽  
pp. 121-123
Author(s):  
Remya Radhakrishnan ◽  
Bitson Augustine ◽  
Poulston Femin ◽  
Vikashini Subramani ◽  
S. Hemalatha ◽  
...  
Keyword(s):  
Case Report ◽  
Metachromatic Leukodystrophy

scholarly journals DENTAL TREATMENT IN A PATIENT WITH METACHROMATIC LEUKODYSTROPHY UNDER GENERAL ANESTHESIA : A CASE REPORT

2016 ◽  
Vol 12 (2) ◽  
pp. 96-100
Author(s):  
Jiyeon Ryu ◽  
Teo Jeon Shin ◽  
Hong-Keun Hyun ◽  
Young Jae Kim ◽  
Jung-Wook Kim ◽  
...  
Keyword(s):  
Case Report ◽  
General Anesthesia ◽  
Dental Treatment ◽  
Metachromatic Leukodystrophy
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