Jf. Mclaughlin et al., MARINESCO-SJOGREN-SYNDROME - CLINICAL AND MAGNETIC-RESONANCE-IMAGING FEATURES IN 3 CHILDREN, Developmental Medicine and Child Neurology, 38(7), 1996, pp. 636-644
The authors describe clinical and MRI features of a girl and two boys,
aged 9, 17 and 19 years, respectively, with Marinesco-Sjogren syndrom
e. The clinical findings included the major features of the syndrome,
including growth deficiency, ataxia, cataracts, hypogonadism (in two)
and seizures (in two). Truncal hypotonia (in three), microcephaly (in
two) and leg spasticity (in two) were also present. MRI showed a very
small cerebellar vermis in all three patients, various supratentorial
abnormalities, an apparently small anterior pituitary gland in two and
the absence of a posterior pituitary gland in all three. The MRI feat
ures are similar to the few reported pathologic findings for persons w
ith Marinesco-Sjogren syndrome. MRI may be helpful in the early diagno
sis of the disorder.