Clinical and Morphometric Analysis of the Hypoplastic Corpus Callosum

Gb, Schaefer; Jb, Bodensteiner; Jn, Thompson; Da, Wilson

doi:10.1001/archneur.1991.00530210059024

Cited by 42 publications

(13 citation statements)

References 9 publications

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“…This comment is not relevant to the one patient who had complete agenesis of the corpus callosum. The incidence of this finding in our study cohort (1/40, 3%) is the same as that reported in an unselected group of patients with mental retardation [Schaefer et al, 1991].…”

Section: Discussionsupporting

confidence: 90%

The neuroimaging findings in Sotos syndrome

Schaefer¹,

Bodensteiner

Buehler³

et al. 1997

Am. J. Med. Genet.

136

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We reviewed the neuroimaging studies of 40 patients with classic Sotos syndrome. The studies consisted of CT scans only in 4 patients and one or more MRI scans in 36 patients. The diagnosis of Sotos syndrome was made using well-established clinical criteria. The neuroimaging studies of each patient were evaluated subjectively by visual inspection and the chief findings were tabulated and grouped into five categories: 1) ventricular abnormalities, 2) extracerebral fluid spaces, 3) midline abnormalities, 4) migrational abnormalities, and 5) others. The most common abnormality of the cerebral ventricles was prominence of the trigone (90%), followed by prominence of the occipital horns (75%) and ventriculomegaly (63%). The supratentorial extracerebral fluid spaces were increased for age in 70% of the patients and the fluid spaces in the posterior fossa were increased in 70% also. A variety of midline abnormalities were noted but anomalies of the corpus callosum were almost universal. Gray matter heterotopias occurred in only 3 (8%) of 36 patients. Periventricular leukomalacia, presumably the result of prenatal or perinatal difficulties and unrelated to the basic condition, was the most common of the miscellaneous other abnormalities noted. The neuroimaging findings of Sotos syndrome are distinct enough to allow differentiation of this syndrome from other mental retardation syndromes with macrocephaly.

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Section: Discussionsupporting

confidence: 90%

The neuroimaging findings in Sotos syndrome

Schaefer¹,

Bodensteiner

Buehler³

et al. 1997

Am. J. Med. Genet.

136

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show abstract

“…Indirect signs are lacking and prenatal diagnosis is therefore more difficult 6 . Hypoplasia occurs as a result of late destruction of the corpus callosum 7 owing to a metabolic, infectious or ischemic origin. Ultrasonographic diagnosis is more difficult and ultimately relies on rather precise measurements that may be compared with normal values according to gestation.…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of hypoplasia of the corpus callosum in association with non‐ketotic hyperglycinemia

Paupe¹,

Bidat²,

Sonigo³

et al. 2002

Ultrasound in Obstet & Gyne

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“…What causes diffuse hypoplasia seems less clear. Cross-sectional studies in children suggest that a hypoplastic corpus callosum indicates some fundamental abnormality of cerebral development [1,22]. Impaired growth of axonal fibers projecting from the cerebral isocortex might be part of such a setting [25].…”

Section: Discussionmentioning

confidence: 99%

Troyer syndrome: a combination of central brain abnormality and motor neuron disease?

Auer‐Grumbach¹,

Fazekas²,

Radner

et al. 1999

Journal of Neurology

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Hereditary spastic paraplegia is a group of clinically and genetically heterogeneous disorders consisting of pure and complicated forms. A variant with the additional features of severe atrophy of the small hand muscles, dysarthria, mental retardation, and short stature has been termed Troyer syndrome (MIM#275900) after the name of Old Order Amish families suffering from these symptoms. We report here an Austrian family with two individuals who exhibit all the features of Troyer syndrome, and provide additional data on this disorder. Electrophysiological studies showed chronic denervation and reduced motor nerve conduction velocities but normal sensory potentials. Muscle biopsy revealed a neurogenic pattern while the sural nerve was normal on histological examination. Brain abnormalities on magnetic resonance imaging consisted of a thin corpus callosum with a poorly developed cingulate gyrus and mild periventricular signal hyperintensities. These findings characterize the Troyer syndrome as a disorder of the first and second motor neuron with additional damage in the brain. The morphological features observed in this family may contribute to the grouping and subsequent understanding of complicated forms of hereditary spastic paraplegia, together with similar observations in other, more recently reported families.

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Clinical and Morphometric Analysis of the Hypoplastic Corpus Callosum

Cited by 42 publications

References 9 publications

The neuroimaging findings in Sotos syndrome

The neuroimaging findings in Sotos syndrome

Prenatal diagnosis of hypoplasia of the corpus callosum in association with non‐ketotic hyperglycinemia

Troyer syndrome: a combination of central brain abnormality and motor neuron disease?

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