R. Amano et al., MONOZYGOTIC TWIN PATIENTS WITH CONGENITAL ICHTHYOSIS, MICROCEPHALUS, SPASTIC QUADRIPLEGIA, MYOCLONUS, AND EEG ABNORMALITIES, Pediatric neurology, 12(3), 1995, pp. 255-259
A pair of monozygotic twins manifested widespread ichthyosis on the tr
unk and extremities, mainly on the extensor surface of the lower legs,
Both patients had severe developmental retardation, microcephalus, sp
astic quadriplegia, myoclonus, and hearing impairment, Cranial compute
d tomography and magnetic resonance imaging revealed diffuse cortical
atrophy, Electroencephalography documented diffuse slow wave dysrhythm
ia and marked epileptic discharges, namely bilateral occipital dominan
t, and low-voltage multifocal spikes which appeared asynchronously as
a burst, mainly during sleep, Skin biopsy revealed hyperkeratosis with
parakeratosis, Granular cell layer was not thickened and diminished.
Papillomatosis was absent, Electron microscopy did not reveal any dist
inctive abnormalities. Sjogren-Larsson syndrome and other known ichthy
osis syndromes were excluded because of the difference in localization
of skin lesions, skin manifestations, lack of papillomatosis, the nat
ure and severity of neurologic symptoms and marked electroencephalogra
phic abnormalities.