Ataxia, delayed dentition and hypomyelination: a novel leukoencephalopathy.
We present four children, three of them boys, affected with an identical clinical pattern consisting of early-onset ataxia, delayed dentition, hypomyelination and cerebellar atrophy. Dental radiographs showed variable absence of succedaneous teeth. Proton MR spectroscopy in one child showed elevated white matter myo-inositol. As the clinical and radiological picture in these patients is identical to that of four cases described earlier, we suggest that this disorder with ataxia, delayed dentition and hypomyelination (ADDH) represents a new entity. With the characteristic tooth abnormalities it should be straightforward to identify new patients in order to facilitate the search for the underlying genetic defect.
Wolf
N I
NI
Department of Paediatric Neurology, University Children's Hospital, Heidelberg, Germany. nicole.wolf@med.uni-heidelberg.de
Harting
I
I
Innes
A M
AM
Patzer
S
S
Zeitler
P
P
Schneider
A
A
Wolff
A
A
Baier
K
K
Zschocke
J
J
Ebinger
F
F
Boltshauser
E
E
Rating
D
D
D000293:Adolescent; D001259:Ataxia / Q000150:complications*; D001927:Brain Diseases / Q000150:complications* / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D009186:Myelin Sheath / Q000502:physiology*; D014071:Tooth Abnormalities / Q000150:complications*