Holoprosencephaly
(HPE) is a rare brain malformation with multiple etiologies and is often
associated with suggestive facial anomalies. This pathology is the result of a
defect in the early development of the forebrain. There are three clinical
forms: lobar, semi-lobar, alobar and another milder subtype of HPE called
middle interhemispheric. In this clinical case, we present a newborn with
alobar holoprosencephaly and we highlight the clinical, radiological and
progressive clinical aspects of this illness during the neonatal period.
References
[1]
Dubourg, C., Bendavid, C., Pasquier, L., Henry, C., Odent, S. and David, V. (2007) Holoprosencephaly. Orphanet Journal of Rare Diseases, 2, Article No. 8.
https://doi.org/10.1186/1750-1172-2-8
[2]
Castañeyra-Perdomo, A., González-Marrero, I., González-Toledo, J.M., Hernández-Abad, L.G., Castañeyra-Ruiz, L., Gonzalez-Arnay, E. and Carmona-Calero, E.M. (2019) A Case of Holoprosencephaly and a Little Review. Human Pathology: Case Reports, 15, 29-32. https://doi.org/10.1016/j.ehpc.2018.10.014
[3]
Ariyo, I.J., Mchaile, D.N., Magwizi, M., Kayuza, M., Mrindoko, P. and Chussi, D.C. (2022) Alobar Holoprosencephaly with Cebocephaly in a Neonate: A Rare Case Report from Northern Tanzania. International Journal of Surgery Case Reports, 93, Article ID: 106960. https://doi.org/10.1016/j.ijscr.2022.106960
Demyer, W. and Zeman, W. (1963) Alobar Holoprosencephaly (Arhinencephaly) with Median Cleft Lip and Palate: Clinical, Electroencephalographic and Nosologic Considerations. Confinia Neurologica, 23, 1-16. https://doi.org/10.1159/000104278
[6]
Amadou, D.A., Franck, D., Mamadou, M. and Mourtalla, K.M. (2013) Holoprosencephaly Alobar amid Polymalformative Syndrome: Contribution of Imaging in a Case Report. The Pan African Medical Journal, 15, Article 83.
https://doi.org/10.11604/pamj.2013.15.83.2797
[7]
Cuisset, J.M., Cuvellier, J.C., Vallée, L., Ryckewäert, P., Soto-Ares, G. and Nuyts, J.P. (1999) Holoprosencephaly with Neurogenic Hypernatremia. Archives de Pédiatrie, 6, 43-45. https://doi.org/10.1016/S0929-693X(99)80072-4