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Autori: M. Boia, V. Botiu, E. Boia, M. J. Puiu, C. Budisan, A. Manea, E. Nedelea, F. Isfan, C. Cojocaru, S. Raicu
Editorial: European Journal of Human Genetics, 2004.
Introduction: Holoprosencephaly appears between the 4-th to 8-th week of pregnancy due to the lack of cleavage of the prosencephalus in the telencephalus and diencephalus,. The attendance is 1 at 10.000 live newborn,; 60 times higher at aborted human embryos. Depending on the degree of differentiation and severity we can have 3 subtypes of holoprosencephaly: alobar. semilobar and lobar.
Material and Method: The authors present a study on 3 premature newborns, with lobar holoprosencephaly, an extremely rare affection in the current medical practice. Two of the patients didn’t show any symptoms until the age of two weeks when they presented generalized tonic-clonic seizure. One of the newborns showed other associated malformations: unilateral anophthalmia and congenital septal defect. Cerebral lesions were highlighted by cerebral imaging methods – head ultrasonography, CT in one of the cases and NMR in 2 of the cases. Those investigations showed specific lesions at the median line . The karyotype was normal in 2 of the cases; one of the cases presented trisomy 13. The evolution of the cases was severe, causing death in one of the cases and slowly evoluting with recurrent seizures and motor- and psychic retardation in two of the cases.
Conclusions: Lobar holoprosencephaly is a rare affection, without specific clinical expression and its diagnosis can be easily missed in the neonatal period. Cerebral imaging was the primary method in the setting of the diagnosis: head ultrasonography tracked down the lesions and CT and NMR established their extension.
Cuvinte cheie: holoprosencephaly, echography, newborn