Results 81 to 90 of about 7,353 (158)

Magnetic resonance imaging enhancement of spinal nerve roots in a boy with X-linked adrenoleukodystrophy before diagnosis of chronic inflammatory demyelinating polyneuropathy

Radiology Case Reports
We present a boy with X-linked adrenoleukodystrophy (X-ALD) who was found to have lumbar nerve root enhancement on a screening MRI of the spine. The MRI was performed for lower extremity predominant symptoms.
Derryl Miller, MD, Laurence Walsh, MD, Lisa Smith, MD, Nucharin Supakul, MD, Chang Ho, MD, Toshihiro Onishi, MD   +5 more
doaj   +1 more source

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Metachromatic leukodystrophy: Diffusion MR imaging findings

, 2002
Herein the case of a 10-month-old boy, with metachromatic leukodystrophy, is reported. Diffusion MR imaging performed with an echo-planar trace sequence revealed a cytotoxic edema-like pattern (high signal intensity on b = 1000 s/mm(2) images and low ...
Sener, RN
core  

ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Identification of two novel arylsulfatase A mutations with a polymorphism as a cause of metachromatic leukodystrophy

, 2009
Objective: Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A or saposin B.
Sinici, Incilay, Oezkara, H. Asuman, Oezkara, HATİCE ASUMAN, Soenmez, F. Muejgan, Oender, Evren, TOPÇU, MERAL   +5 more
core   +1 more source

ePosters Virtual

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Molecular basis of different forms of metachromatic leukodystrophy

, 1991
Metachromatic leukodystrophy is an autosomal recessive inherited lysosomal storage disorder caused by a deficiency of arylsulfatase A. Three forms of the disease can be distinguished according to severity and the age at onset: late infantile (1 to 2 ...
Fluharty, Claire B., Gieselmann, Volkmar, Fluharty, Arvan L., Figura, Kurt von, Polten, Andreas, Kappler, Joachim   +5 more
core   +1 more source

The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review

European Journal of Medical Research
Background Metachromatic leukodystrophy (MLD; OMIM 250100 and 249900) is a rare lysosomal storage disease caused by deficient arylsulfatase A activity, leading to accumulation of sulfatides in the nervous system.
Shun-Chiao Chang, Christian Stefan Eichinger, Polly Field   +2 more
doaj   +1 more source

Adult-onset metachromatic leukodystrophy with compound heterozygous ARSA gene mutation presented with mania and cognitive decline

, 2016
Adult-onset metachromatic leukodystrophy is often a diagnostic challenge to many clinicians. It may be presented with psychiatry symptom before other evidences of leukodystrophy are uncovered.
Farah Nadhirah
core   +1 more source

Juvenile Metachromatic Leukodystrophy in a Seven-Year-Old Child With a Familial History: A Case Report Suggesting Saposin B Deficiency. [PDF]

Cureus
Hassan AO, Arrab R, Benchchehab Y, Al Ammari I, Dini N.   +4 more
europepmc   +1 more source