MONOZYGOTIC TWIN PATIENTS WITH CONGENITAL ICHTHYOSIS, MICROCEPHALUS, SPASTIC QUADRIPLEGIA, MYOCLONUS, AND EEG ABNORMALITIES

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.