ABSTRACT
RESUMEN: El defecto más común del prosencéfalo es la holoprosencefalia (HPE), caracterizada por ausencia en la división del prosencéfalo. La holoprosencefalia tiene una prevalencia de 1/10.000 en recién nacidos; la ciclopía de 1/100.000 nacidos y la agnatia asociada a holoprosencefalia de 0,8 a 10 %. El objetivo fue describir las características morfológicas e histopatológicas de un feto humano con holoprosencefalia y sus malformaciones asociadas. Se estudió un feto masculino. Se le realizó microdisección bajo el estereomicroscopio, toma de microfotografías con cámara AxioCam y software AxioVision 4.8, y estudio histopatológico. La edad gestacional estimada fue de 12,4-13,2 semanas, encontrándose como hallazgos la HPE semilobar asociada a ciclopía, esbozo oral hipoplásico sin apertura oral, cubierta por una membrana y ausencia de labios. El estudio histopatológico reportó: ojo con lente, retina y córnea únicos; en la cara, probóscide con cartílago tubular en formación asociado a mesénquima y cubierta muscular esquelética, y cavidad oral pequeña, circunscrita por mandíbula hipoplásica conformada por cartílago. Se revisa la literatura y se reafirma la necesidad de estudio multidisciplinario de esta patología para mejorar su comprensión.
SUMMARY: The most common defect of the forebrain is holoprosencephaly (HPE), characterized by absence in the forebrain division. Holoprosencephaly has a prevalence of 1 / 10,000 in newborns; the cyclopia of 1 / 100,000 births and the agnathia, in a series of cases of holoprosencephaly ranges from 0.8 to 10 %. The objective was the description of the morphological and histopathological characteristics of fetus with holoprosencephaly and its associated malformations. A male fetus was studied. Microdissection was performed under the stereomicroscope, taking microphotographs with AxioCam camera and AxioVision 4.8 software, and histopathological study. The estimated gestational age was 12.4-13.2 weeks, the findings were semilobar HPE, associated with cyclopia, hypoplastic oral outline without buccal opening, covered by a membrane and lips absence. The histopathological study reported: eye with lens, retina and cornea only; in the face, proboscis with tubular cartilage in formation associated with mesenchyme and musculoskeletal sheath, and small oral cavity, delimited by hypoplastic mandible conformed by cartilage. The literature is reviewed and reaffirmed the need for multidisciplinary studies of this disease to improve their understanding.
Subject(s)
Humans , Female , Pregnancy , Abnormalities, Multiple/pathology , Holoprosencephaly/pathology , Fetus/abnormalitiesABSTRACT
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
Subject(s)
Animals , Goats , Holoprosencephaly/pathology , Holoprosencephaly/diagnostic imaging , Tomography, X-Ray Computed , RadiographyABSTRACT
Para a realizaçäo deste estudo, que tem por objetivo classificar e analisar o aspecto mascroscópico do cérebro e facies na holoprosencefalia, foram revisados seis casos examinados no Departamento de Patologia da FFFCMPA. Comparaçäo dos dados observados neste estudo é feita com aqueles da literatura sobre o asssunto