In utero onset was noted by Badr El-Din (1960), who described the condition in sibs as a familial convulsive disorder. Other features were mental retardation, generalized hypertonus, reflex myoclonus, and death in the first year. Winkelman and Moore (1942) described a single case with antenatal onset. Liu and Sylvester (1960) reported a disorder beginning near or before birth and characterized by mental deterioration, fits, spasticity, paralysis, deafness, and blindness. The parents were not related and 2 brothers were affected. The condition could, of course, be X-linked as well as autosomal recessive. Intrauterine convulsions also occur in pyridoxine dependency (Bejsovec et al., 1967); see 266100.
Badr El-Din, M. K. A familial convulsive disorder with an unusual onset during intrauterine life. A case report. J. Pediat. 56: 655-657, 1960. [PubMed: 13819848] [Full Text: https://doi.org/10.1016/s0022-3476(60)80340-x]
Bejsovec, M., Kulenda, Z., Ponca, E. Familial intrauterine convulsions in pyridoxine dependency. Arch. Dis. Child. 42: 201-207, 1967. [PubMed: 6024470] [Full Text: https://doi.org/10.1136/adc.42.222.201]
Liu, M. C., Sylvester, P. E. Familial diffuse progressive encephalopathy. Arch. Dis. Child. 35: 345-351, 1960. [PubMed: 13762790] [Full Text: https://doi.org/10.1136/adc.35.182.345]
Winkelman, N. W., Moore, M. T. Progressive degenerative encephalopathy (report of case in infancy with antenatal onset simulating 'swayback' of lambs). J. Neuropath. Exp. Neurol. 1: 127 only, 1942.