Portal de Periódicos da CAPES

Clinical and Neuropathological Investigations of Four Cases of Holoprosencephaly with Arhinencephaly

1970; Thieme Medical Publishers (Germany); Volume: 2; Issue: 02 Linguagem: Inglês

10.1055/s-0028-1091850

1439-1899

M Habedank, Ekkehard Thomas,

Craniofacial Disorders and Treatments

Clinical case reports of four children with holoprosencephalic deformities of varying degrees are discussed together with the neuropathological examinations of three cases. Classification were carried out in accordance with the system proposed by DEMYER and ZEMAN (1963). A cebocephalic infant that had survived for a few hours only had an alobar holoprosencephaly; the pituitary gland and the adrenals were absent. Two babies with semilobar holoprosencephaly had median cheilognathoschisis combined with hypotelorism and in one case with asymmetrical microphthalmia. The definitive diagnoses were made clinically on the basis of the pneumencephalographic and electroencephalographic findings. These original findings also demonstrated the difference in severity between the two cases, which was later confirmed by neuropathological examination. A child who had bilateral cheilognathopalatoschisis, hypotelorism and microcephaly was classified on the basis of clinical findings as belonging to the group of lobar holoprosencephalies. This child survived for three years. No autopsy was performed. In this particular case the EEG changed remarkably with increasing age. An abnormal arrangement of bioelectric activity with predominance of frontal activity was later superseded by signs of generalized paroxyms. Chromosome analyses, carried out in three cases, were normal. For this reason and for others stated below, exogenous influences ought to be considered in the etiology. The comparisons of our clinical and neuropathological findings given are presented as examples for future clinical investigation and as an aid for accurate prognosis.