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
Objectives: Holoprosencephaly is a rare condition characterized by different degrees of fused ventricles of the brain resulting from impaired midline cleavage of the embryonic forebrain. The present study aimed to identify cases of holoprosencephaly over a period of three years, to assess the incidence of this malformation, and if possible, prevention of birth of such malformed fetus or infant through genetic counseling. Methods: Diverse features of holoprosencephalic fetus or infant and incidence of holoprosencephaly were studied at GSL Medical College, Rajahmundry; Andhra Pradesh. Results: Incidence found for holoprosencephaly is 2.58 per 10,000 births. Out of total four cases of holoprosencephaly two cases were of alobar and there was each case of semilobar and lobar holoprosencephaly. In two cases there was association between holoprosencephaly and gestational diabetes and in another two cases; there was a familial distribution of holoprosencephaly. Conclusion: Prenatal diagnosis of this rare disorder and genetic counseling has immense importance to prevent holoprosencephaly.