TY - JOUR
T1 - Novel hypomyelinating leukoencephalopathy affecting early myelinating structures
T2 - Clinical course in two brothers
AU - Tonduti, Davide
AU - Pichiecchio, Anna
AU - Wolf, Nicolei
AU - Ariaudo, Giada
AU - Van Der Knaap, Marjos
AU - Bastianello, Stefano
AU - Balottin, Umberto
AU - Orcesi, Simona
PY - 2013
Y1 - 2013
N2 - A novel leukoencephalopathy, termed hypomyelinating leukoencephalopathy affecting early myelinating structures (HEMS), was recently described. Here we report on two patients affected by HEMS with a clinical picture characterized by early-onset nystagmus and thereafter progressive cerebellar signs and mild spasticity predominantly affecting the legs. In one patient, who has the longest follow-up described to date, we detected a mild worsening of the clinical and neuroradiologic picture after a long period of stability lasting until age 6 years. The most recent magnetic resonance image, performed at the age of 11 years, showed a more severe neuroradiologic picture characterized by involvement of almost the entire supratentorial white matter, with relative sparing of the subcortical fibers. We also provide spectroscopy results, not previously reported in this disorder, that support the idea of a progressive disease course on neuroimaging. Our findings suggest that HEMS patients should undergo a new magnetic resonance imaging evaluation after a certain interval to look for possible progression of the abnormalities.
AB - A novel leukoencephalopathy, termed hypomyelinating leukoencephalopathy affecting early myelinating structures (HEMS), was recently described. Here we report on two patients affected by HEMS with a clinical picture characterized by early-onset nystagmus and thereafter progressive cerebellar signs and mild spasticity predominantly affecting the legs. In one patient, who has the longest follow-up described to date, we detected a mild worsening of the clinical and neuroradiologic picture after a long period of stability lasting until age 6 years. The most recent magnetic resonance image, performed at the age of 11 years, showed a more severe neuroradiologic picture characterized by involvement of almost the entire supratentorial white matter, with relative sparing of the subcortical fibers. We also provide spectroscopy results, not previously reported in this disorder, that support the idea of a progressive disease course on neuroimaging. Our findings suggest that HEMS patients should undergo a new magnetic resonance imaging evaluation after a certain interval to look for possible progression of the abnormalities.
KW - HEMS
KW - hypomyelination
KW - leukodystrophy
UR - http://www.scopus.com/inward/record.url?scp=84880330720&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84880330720&partnerID=8YFLogxK
U2 - 10.1055/s-0032-1333440
DO - 10.1055/s-0032-1333440
M3 - Article
C2 - 23349001
AN - SCOPUS:84880330720
VL - 44
SP - 213
EP - 217
JO - Neuropediatrics
JF - Neuropediatrics
SN - 0174-304X
IS - 4
ER -