RESUMEN
Alobar holopresencephaly is a rare embryonic condition where there is anomalous fusion of cerebral hemispheres. The key features include neurological impairment and facial dysmorphism like cyclopia, ocular hypertelorism with divided orbits and a proboscis. Obstetric ultrasound and foetal MRI are the diagnostic modalities. Majority of cases are sporadic in origin while a genetic association is also described. A small recurrence risk is noted in cases with sporadic origin. Early diagnosis and pregnancy termination are advisable for the condition since the survival rate is very low.
RESUMEN
Holoprosencephaly (HPE), a congenital induction disorder, occurs due to failed segmentation of neural tube and subsequent incomplete separation of the prosencephalon. Because of the defect in the ventral induction, HPE is also associated with multiple facial abnormalities. Mortality correlates with the severity of brain malformation and facial phenotype. Frequent causes of death include respiratory infections, dehydration due to uncontrolled diabetes insipidus, intractable seizures, and brainstem malfunction. This is a case of Alobar holoprosencephaly in the fetus of a 31-year-old G2P1 female, detected on level II obstetric ultrasound at 17 weeks of gestation. The objective of this case report is to discuss the etiology, pathogenesis, prenatal sonographic findings, management and prognosis of HPE which can aid in its early antenatal diagnosis and can help formulate an adequate plan for the parents and fetus.
RESUMEN
'Holoprosencephaly (HPE) is a structural malformation of the brain that results from the complete or incomplete noncleavage of the forebrain/ prosencephalon of the embryo into 2 hemispheres1. We present a case of twenty-five year-old primigravida presented to the Outpatient department of Obstetrics for routine checkup and diagnosed with Alobar holoprosencephaly on 2nd level USG. Fetal MRI was performed and the findings were confirmed. Even though ultrasonography is diagnostic in the detection of fetal anomalies, MRI plays a vital role due to its multiplanar capability and excellent soft tissue resolution. The purpose of publishing this case is to sensitize the clinicians to the classical features of holoprosencephaly on various imaging modalities and to stress the importance of its detection before 20 weeks of gestation so as to allow for legal medical termination and alleviate maternal psychological trauma of bearing a deformed fetus.
RESUMEN
Introduction: The syndrome by deletion of the short arm of chromosome 18 is an infrequent syndrome, and its phenotypical variability makes it difficult to recognize. Its most frequently observed clinical characteristics include mental retardation, growth retardation, craniofacial malformations, including long ears, microcephaly and short neck; other less frequent associated malformations include holoprosencephaly. Case report: We present two patients with deletion of the short arm of chromosome 18, one presented a de novo mutation and the other was produced by a balanced translocation 6p/18p of maternal origin. Both patients presented alobar holoprosencephaly and cebocephaly, low-frequency clinical characteristics in this syndrome. Discussion: alobar holoprosencephaly is a malformation appearing in 10% of patients with deletion of the short arm of chromosome 18; we review the probable physiopathology of holoprosencephaly in this syndrome.
Introducción: El síndrome por deleción del brazo corto del cromosoma 18, es un síndrome poco frecuente y su variabilidad fenotípica lo hace difícil de reconocer. Las características clínicas observadas con más frecuencia incluyen retardo mental y de crecimiento, malformaciones craneofaciales que incluyen orejas largas, microcefalia y cuello corto; otras malformaciones asociadas menos frecuentes incluyen la holoprosencefalia. Reporte de casos: Se presentan dos pacientes con deleción del brazo corto del cromosoma 18, uno presentado de novo y otro producido por translocación balanceada 6p/18p de origen materno. Ambos pacientes presentaron holoprosencefalia alobar y cebocefalia, características clínicas de baja frecuencia en este síndrome. Discusión: La holoprosencefalia alobar es una malformación que se presenta en 10% de los pacientes con deleción del brazo corto del cromosoma 18; se revisa la probable fisiopatología de la holoprosencefalia en este síndrome.
Asunto(s)
Humanos , Masculino , Recién Nacido , Holoprosencefalia , Genética , MicrocefaliaRESUMEN
Se presenta un caso de ciclopía con diagnóstico prenatal por ecografía bidimensional y tridimensional, a quien se le realizó cordocentesis, el cariotipo en sangre fetal con bandeo G mostró trisomía 13 libre, las características fenotípicas se confirmaron al examen físico del recién nacido. Se hace una revisión de la literatura de ciclopía asociada con la trisomía 13 y se destacan aspectos de importancia en la ecografía prenatal.
A cyclopia case with prenatal diagnosis by two dimensional and three dimensional ecography is presented, chordocentesis was realized, the chariotype in fetal blood with G banding presented trisomy 13. Phenotypic characteristics prenatally found where confirmed with the physical examination of the newborn. A revision to the literature about cyclops associated with trisomy 13 was made, and important aspects in prenatal diagnosis were highlighted.
Asunto(s)
Humanos , Embarazo , Recién Nacido , Holoprosencefalia , Diagnóstico Prenatal , TrisomíaRESUMEN
Holoprosencephaly is a developmental malformation complex of forebrain and midface which arises from incomplete cleavage of the embryonic forebrain. It is subdivided into alobar, semilobar and lobar types based on the degree of growth disturbance within the anterior wall of the telencephalon, particularly in the midline. Cyclopia is the most severe form of alobar holoprosencephaly presenting a single median eye and a blind-ending proboscis usually located above the eye. We report a case of alobar holoprosencephaly with cyclopia and proboscis in premature infant.