A new X‐linked syndrome comprising progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness

Abstract

We report on 4 boys (3 in one family) who have a remarkably constant syndrome of childhood-onset choreoathetosis with later spasticity, postnatal microcephaly, growth and mental retardation, apparent external ophthalmoplegia and varying degrees of deafness. The pedigrees are consistent with X-linked inheritance. The syndrome is compared and contrasted with others comprising basal ganglion dysfunction in childhood. It is concluded that clinically and genetically the condition is unique.

Mitochondrial dysfunction in Brooks–Wisniewski–Brown syndrome

“…Similar clinical phenotypes were reported in combination with optic atrophy and vision loss by Gustavson et al 1993 and Schimke et al 1984 with abnormalities of the basal ganglia, however the congenital brain malformations in these patients were more severe compared to the ones described here. The patient, observed by Pettigrew et al 1991 had many overlapping features with our patients as well, including athetotic movements, and furthermore external ophthalmoplegia, a common feature in mitochondrial disorders.…”

Persistent, Asymptomatic, Microscopic Hematuria in Prospective Kidney Donors

“…2). Another woman, whose nephew has Schimke's syndrome (11,12), had 7 of 30 glomeruli globally sclerosed (Fig. 3).…”

X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27

“…16-19 Schimke syndrome, as yet not mapped, shares some manifestations, including microcephaly, profound mental retardation, absent speech, short stature, generalised asthenia, secondary contractures, hypoplastic cerebellum, and ophthalmoplegia 20…”