Holoprosencefalia lobar en un recién nacido / Lobar Holoprosencephaly in A Newborn Infant

Introducción: La holoprosencefalia es la consecuencia directa de cambios genéticos o ambientales específicos que interrumpen la división de la línea media del prosencéfalo embrionario o prosencéfalo. Estas alteraciones pueden condicionar disímiles alteraciones fenotípicas en los seres humanos. Objetivo: Describir las manifestaciones clínicas de pacientes con holoprosencefalia y la conducta clínica y terapéutica en un neonato. Presentación del caso: Hijo de padres no consanguíneos, madre de 35 años de edad con antecedente de cervicitis y gestorragia en la segunda mitad del embarazo, y antecedentes familiares de diabetes mellitus y cardiopatía. El parto se produjo a término a las 37 semanas, distócico por cesárea secundaria a un hematoma retroplacentario. Se obtuvo un recién nacido del sexo masculino con presentación pelviana, peso de 3380 gramos y Apgar 9/9 al nacer. La cesárea se realizó en el Hospital Materno Sur Mariana Grajales Coello (área urbana) de Santiago de Cuba. En el recién nacido se observaron rasgos dismórficos principalmente cráneo-facial. No precisó reanimación, pero a los pocos minutos comenzó con cuadro de dificultad respiratoria e hiposaturación. Conclusiones: En la holoprosencefalia el diagnóstico posnatal se puede realizar mediante las características fenotípicas, las malformaciones faciales y los estudios neuroimagenológicos como el ultrasonido transfontanelar y la tomografía axial computarizada de cráneo. Los pacientes deben evaluarse y seguirse en la evolución por un equipo multidisciplinario de especialidades como otorrinolaringología, máxilo-facial, neuropediatría, consulta de neurodesarrollo, genética, fisiatría e imagenología(AU)

Introduction: Holoprosencephaly is the direct consequence of specific genetic or environmental changes that disrupt midline division of the embryonic prosencephalon or prosencephalon. These alterations can condition dissimilar phenotypic alterations in humans. Objective: To describe the clinical manifestations of patients with holoprosencephaly and the clinical and therapeutic behavior in a neonate. Case presentation: Child of non-consanguineous parents, 35-year-old mother with a history of cervicitis and gestation bleeding in the second half of pregnancy, and family history of diabetes mellitus and heart disease. Delivery was at term, at 37 weeks, dystocic by cesarean section secondary to a retroplacental hematoma. The result was a male newborn with breech presentation, weight 3380 grams and Apgar 9/9 at birth. The cesarean section was performed at the Hospital Materno Sur Mariana Grajales Coello (urban area) of Santiago de Cuba. Dysmorphic features were observed in the newborn, mainly craniofacial dysmorphic ones. He did not require resuscitation, but a few minutes later he presented respiratory distress and hyposaturation. Conclusions: In holoprosencephaly, postnatal diagnosis can be made by phenotypic features, facial malformations and neuroimaging studies such as transfontanellar ultrasound and cranial computed tomography. Patients should be evaluated and followed in evolution by a multidisciplinary team of specialties such as otorhinolaryngology, maxillofacial, neuropediatrics, neurodevelopmental consultation, genetics, physiatry and imaging(AU)

Síndrome del incisivo central maxilar medio único en neonato / Solitary median maxillary central incisor syndrome in neonates / Síndrome do incisivo central maxilar médio solitário em neonatos

Introducción: el síndrome del incisivo central maxilar medio único (SMMCI) es un trastorno de etiología desconocida, con base genética heterogénea, que se caracteriza por la erupción de un único incisivo central en el maxilar y que se puede relacionar con multitud de patologías y síndromes, entre los que destacan las alteraciones de la línea media, obstrucción nasal congénita, disfunción hipofisaria, talla baja y holoprosencefalia. Caso clínico: neonato mujer con síndrome dismórfico no filiado y obstrucción nasal congénita, que es diagnosticada de SMMCI tras consultar en repetidas ocasiones por cuadros de dificultad respiratoria y problemas para alimentarse. Conclusiones: el conocimiento de este raro síndrome es fundamental para la realización de un diagnóstico precoz por parte del equipo pediátrico y obstétrico, ya que un diagnóstico temprano es posible, mejorando la evaluación prenatal ecográfica, así como el adecuado manejo posnatal multidisciplinar posterior de nuestros pacientes.

Introduction: the Solitary Median Maxillary Central Incisor Syndrome (SMMCI) is a disorder of unknown etiology, with a heterogeneous genetic basis, characterized by the eruption of a single central incisor in the maxilla and that can be linked to various pathologies and syndromes, among which the alterations of the midline, congenital nasal obstruction, pituitary dysfunction, short stature and holoprosencephaly stand out. Clinical case: female newborns with unknown dysmorphic syndrome and congenital nasal obstruction, diagnosed with SMMCI after repeated consultations due to respiratory distress and feeding problems. Conclusions: understanding this rare syndrome is essential for an early diagnosis to be carried out by the pediatric and obstetric team, since it will improve the ultrasound prenatal assessment, as well as the adequate subsequent multidisciplinary postnatal patient management procedures.

Introdução: a síndrome do incisivo central maxilar médio solitário (SICMMS) é uma desordem de etiologia desconhecida, com base genética heterogênea, caracterizada pela erupção de um único incisivo central na maxila e que pode estar relacionada a uma infinidade de patologias e síndromes. onde se destacam alterações da linha média, obstrução nasal congênita, disfunção hipofisária, baixa estatura e holoprosencefalia. Caso clínico: recém-nascida com síndrome dismórfica de origem desconhecida e obstrução nasal congênita, diagnosticada com SICMSS após várias consultas por desconforto respiratório e problemas de alimentação. Conclusões: o conhecimento desta rara síndrome é essencial para que a equipe pediátrica e obstétrica possa fazer um diagnóstico precoce, pois ele pode melhorar a avaliação ultrassonográfica pré-natal, bem como o adequado manejo pós-natal multidisciplinar pós-natal dos pacientes.

Incisivo central único de la línea media del maxilar, holoprosencefalia y estenosis congènita del orificio nasal anterior en un recién nacido prematuro: a propósito de un caso / Solitary median maxillary central incisor, holoprosencephaly and congenital nasal pyriform aperture stenosis in a premature infant: case report

El síndrome del incisivo central único de la línea media del maxilar es un trastorno raro que implica anomalías de la línea media, como holoprosencefalia, anomalías de las fosas nasales, fisura palatina, labio leporino, hipotelorismo, microcefalia y panhipopituitarismo. La estenosis congénita del orificio nasal anterior es una causa mortal de dificultad respiratoria neonatal debido al estrechamiento del orificio nasal anterior, y podría confundirse con la atresia de coanas. En este informe, presentamos el caso de un recién nacido con síndrome del incisivo central único de la línea media del maxilar acompañado de otras anomalías, tales como holoprosencefalia, estenosis del orificio nasal anterior, microcefalia y panhipopituitarismo. El cariotipado mostró una deleción heterocigota en el gen SIX3 en la región 2p21, que produjo una forma más grave de holoprosencefalia.

Solitary median maxillary central incisor syndrome is a rare disorder involving midline abnormalities such as holoprosencephaly, nasal cavity anomalies, cleft palate-lip, hypotelorism, microcephaly, and panhypopituitarism. Congenital nasal pyriform aperture stenosis is a lethal cause of neonatal respiratory distress due to narrowing of the pyriform aperture anteriorly and it can be confused with choanal atresia. In this report, we present a newborn infant with solitary median maxillary central incisor syndrome accompanied by other abnormalities including holoprosencephaly, nasal pyriform aperture stenosis, microcephaly and panhypopituitarism. Chromosomal analysis showed heterozygous SIX3 gene deletion at 2p21 region resulting in a more severe form of holoprosencephaly.

Cyclopia of goat: micro and macroscopic, radiographic and computed tomographic studies

Cyclopia is a rare unusual anomaly in which the anterior brain and the midline mesodermal structures develop anomalously. The orbital region is grossly deformed, resulting in the formation of a central cavity [pseudo orbit] with absence of nasal cavity. In the present study, a newly born male goat showing true cyclopia was examined grossly, radiographically, CT and histologically. The head was small and severely deformed with a hydrocephalus on the forehead. The upper and lower lip were present but small. The upper jaw was short due to the absence of the os incisivum and the deformity of the maxilla. A well marked malformed was present. The lower margin of the mandible was strongly curved and carries a prominent ventral peak. The maxilla was reduced. The frontal, lacrimal, nasal, premaxilla vomer bones, the orbit and nasal septum were absent. The dura mater was developed but the falex cerebri was absent. Only one eyeball was present and large with a thick optic nerve. There was only one optic nerve and there was no evidence of optic chiasma Cerebrum was poorly developed and there was no formation of cerebral hemispheres. The eye showed histologically some blood capillaries found in the substantia propria of the cornea. The retina showed areas of normal lamination, whereas in other areas, especially near the site of optic disk, it was replaced by numerous neuronal rosettes. These finding support the hypothesis that the craniofacial malformation in holoprosencephaly result from a developmental disturbance of the mesoderm at the rostral end of the notochord

Holoprosencephaly: a case report and review of prenatal sonographic findings

Holoprosencephaly is a rare intracranial abnormality. The incidence of holoprosencephaly is between 0.56-0.63 of 10,000 live-born infants 10. It has classified into three degrees, alobar, semilobar and lobar. In this case report we are introducing a case of Holoprosencephaly, in 13 weeks of pregnancy which was twin. We could identified this abnormality and the reduction was done in the appropriate time. The role of prenatal sonography in recognition of the malformation and prognostic value of these features are discussed