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Lobar Holoprosencephaly – positive diagnosis

Domenii publicaţii > Ştiinţe medicale + Tipuri publicaţii > Articol în revistã ştiinţificã

Autori: M. Boia, V. Botiu, E. Boia, M. Puiu, D. Iacob, A. Manea, D. Mihut;

Editorial: nature publishing group, European journal of human genetics, Volume 14 Supplement 1, p.130, 2006.


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: holoprozencefalie, ecografie, nou-nascut // holoprosencenphaly*echography*newborn