Value of chromosomal microarray analysis for the diagnosis of fetuses with anomalies of central nervous system / 中华医学遗传学杂志

OBJECTIVE@#To assess the value of chromosomal microarray analysis (CMA) for the diagnosis of fetuses with anomalies of the central nervous system (CNS) and summarize the outcome of the pregnancies and follow-up.@*METHODS@#A total of 636 fetuses from June 2014 to December 2020 who were referred to the Prenatal Diagnosis Center of Nanjing Drum Tower Hospital due to abnormal CNS prompted by ultrasound were selected as the research subjects. Based on the ultrasound findings, the fetuses were divided into ventricular dilatation group (n = 441), choroid plexus cyst group (n = 41), enlarged posterior fossa group (n = 42), holoprosencephaly group (n = 15), corpus callosum hypoplasia group (n = 22), and other anomaly group (n = 75). Meanwhile, they were also divided into isolated (n = 504) and non-isolated (n = 132) groups based on the presence of additional abnormalities. Prenatal samples (amniotic fluid/chorionic villi/umbilical cord blood) or abortus tissue were collected for the extraction of genomic DNA and CMA assay. Outcome of the pregnancies and postnatal follow-up were summarized and subjected to statistical analysis.@*RESULTS@#In total 636 fetuses with CNS anomalies (including 89 abortus tissues) were included, and 547 cases were followed up. The overall detection rate of CMA was 11.48% (73/636). The detection rates for the holoprosencephaly group, ACC group, choroid plexus cyst group, enlarged posterior fossa group, ventricular dilatation group and other anomaly group were 80% (12/15), 31.82% (7/22), 19.51% (8/41), 14.29% (6/42), 7.48% (33/441) and 9.33% (7/75), respectively. Compared with the isolated CNS anomaly group, the detection rate for the non-isolated CNS anomaly group was significantly higher (6.35% vs. 31.06%) (32/504 vs. 41/132) (χ² = 62.867, P < 0.001). Follow up showed that, for 52 fetuses with abnormal CMA results, 51 couples have opted induced labor, whilst 1 was delivered at full term with normal growth and development. Of the 434 fetuses with normal CMA results, 377 were delivered at full term (6 had developmental delay), and 57 couples had opted induced labor. The rate of adverse pregnancy outcome for non-isolated CNS abnormal fetuses was significantly higher than that of isolated CNS abnormal fetuses (26.56% vs. 10.54%) (17/64 vs. 39/370) (χ² = 12.463, P < 0.001).@*CONCLUSION@#Fetuses with CNS anomaly should be tested with CMA to determine the genetic cause. Most fetuses with negative CMA result have a good prognosis, but there is still a possibility for a abnormal neurological phenotype. Fetuses with CNS abnormalities in conjunct with other structural abnormalities are at increased risk for adverse pregnancy outcomes.

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.

Analysis of a child with holoprosencephaly due to variant of SIX3 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis of a child with holoprosencephaly.@*METHODS@#Genomic DNA of the child was extracted and subjected to whole exome sequencing. Suspected variant was verified by Sanger sequencing of her family members.@*RESULTS@#Cranial MRI suggested lobulated holoprosencephaly with partial absence of corpus callosum. Genetic testing revealed that she has carried a heterozygous c.517C>G (p.His173Asp) variant of the SIX3 gene, for which both of her parents were of wild type. Based on the American College of Medical Genetics and Genomics guidelines, the c.517C>G variant of SIX3 gene was predicted to be pathogenic (PS2+PM1+PM2+PM5+PP3).@*CONCLUSION@#The SIX3 gene c.517C>G variant probably underlay the multiple malformations in this child. Above finding has enabled her definite diagnosis.

Clinical features and genetic analysis of a fetus with holoprosencephaly / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical features and pathogenesis of a fetus with holoprosencephaly.@*METHODS@#The findings of prenatal ultrasonography was reviewed. Following elective abortion, whole exome sequencing (WES) was carried out to identify potential pathogenic variant. Copy number variants (CNVs) of the abortus and its parents were detected by low-depth high-throughput sequencing. The parents were also analyzed by chromosomal karyotyping.@*RESULTS@#Prenatal ultrasound suggested that the fetus had holoprosencephaly. WES revealed that it had approximately 33 Mb deletion at chromosome 13 involving ZIC2, a haploid dose sensitive gene. The results of low-depth high-throughput sequencing confirmed that the fetus carried a de novo 32.32 Mb deletion at 13q31.1-34. Karyotyping analysis has excluded gross chromosomal aberration in both parents.@*CONCLUSION@#The fetus was diagnosed with holoprosencephaly, which may be attributable to the 13q31.1-34 deletion involving the ZIC2 gene.

A case of de novo 18p deletion syndrome with panhypopituitarism

Deletion on the short arm of chromosome 18 is a rare disorder characterized by intellectual disability, growth retardation, and craniofacial malformations (such as prominent ears, microcephaly, ptosis, and a round face). The phenotypic spectrum is wide, encompassing a range of abnormalities from minor congenital malformations to holoprosencephaly. We present a case of a 2-year-old girl with ptosis, a round face, broad neck with low posterior hairline, short stature, and panhypopituitarism. She underwent ventilation tube insertion for recurrent otitis media with effusion. Brain magnetic resonance imaging showed an ectopic posterior pituitary gland and a shallow, small sella turcica with poor visualization of the pituitary stalk. Cytogenetic and chromosomal microarray analysis revealed a de novo deletion on the short arm of chromosome 18 (arr 18p11.32p11.21[136,227–15,099,116]x1). She has been treated with recombinant human growth hormone (GH) therapy since the age of 6 months after diagnosis of GH deficiency. Her growth rate has improved without any side effects from the GH treatment. This case expands the phenotypic spectrum of 18p deletion syndrome and emphasizes the positive impact of GH therapy on linear growth in this syndrome characterized by growth deficiency. Further studies are required to define the genotype-phenotype correlation according to size and loci of the deletion in 18p deletion syndrome and to predict prognosis.

A Case of Congenital Nasal Pyriform Aperture Stenosis

Holoprosencefalia semilobar y malformaciones asociadas: reporte de caso y algunas consideraciones / Semilobar holoprosencephaly and associated malformations: case report and some considerations

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.

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.

Atención odontológica a un bebé con holoprosencefalía: relato de caso clínico / Dental care for a baby with holoproscephaly: case report

Ejercer el rol de cuidador de un niño con deformaciones congénitas es una tarea difícil y representa un componente importante dentro de la familia en tanto que esa persona se hace responsable del cuidado de ese ser especial. Para que esto suceda, la conducta de los profesionales del área de la salud frente a este contexto debe ser específica y de calidad, de modo a ofrecer el soporte necesario a la familia/cuidador. Con el fin de promover una atención efectiva, los profesionales deben buscar el conocimiento del síndrome que afecta al paciente, así como su respuesta conductual y sus características mas prevalentes. El presente trabajo tuvo como objetivo presentar el informe de un caso clínico de un paciente bebé del sexo femenino, que requiere de cuidados exclusivos por parte de sus padres, quienes buscaron asistencia en la Universidad Federal de Río Grande do Sul, Brasil, en la disciplina Atención Odontológica al Paciente Necesidades Especiales. También se hace hincapié en el manejo y los cuidados por parte del odontólogo de aquellos pacientes con discapacidad desde el momento de su nacimiento, a fin de proporcionarles los recursos adecuados a través de orientaciones en cuanto a la higiene bucal con el fin de que se pueda instalar y mantener las condiciones de la salud oral, mejorando la calidad de vida de los pacientes con discapacidad.

The exercise the role of caregiver of a child with birth defects is a difficult task and takes a significant role in the family, to the extent that this person actually wants to become responsible for the care that is why the conduct of health professionals within this context must be specific and quality, in order to provide the necessary support to the family/caregiver.To be able to give an effective care, the professionals must seek knowledge of the syndromes that affect the patients, as well as their behavioral response and their common features. The aimed of this study is to present a case report about a female baby, with disabilities whichinvolve several malformations, including a delay in the normal development and demand undivided care by her parents, who looked for professional care with prevent purpose on the subject named: Atendimento Odontológico ao Paciente com Necessidades Especiais, in the Federal University of Rio Grande do Sul. In addition, this paper has the purpose, to call the attention to the handling and care that should be taken in relation to those with disabilities since the moment of his birth by the dentist, providing them, with appropriate means through guidance on the oral hygiene with the purpose of to install and maintain adequate oral health conditions, improving the quality of life for patients with disabilities.

Polidactilia, holoprosencefalia, labio y paladar hendido: no siempre es lo que parece / Polydactyly, holoprosencephaly, cleft lip and cleft palate are not always what they seem: Case report

Reportamos un neonato masculino con defectos de línea media, cardiopatía congénita y polidactilia, características sugestivas de trisomía 13. Sin embargo, el reporte de cariotipo fue normal. Por hallazgos clínicos, el diagnóstico final probable fue pseudotrisomía 13. Aunque el pronóstico de ambas condiciones es pobre, los estudios genéticos siempre son necesarios para establecer una adecuada asesoría genética. Si bien hay síndromes con presentación similar, como el de Meckel, el de Smith-Lemli- Opitz, el de Pallister-Hall y el hidroletalus, se puede realizar una aproximación diagnóstica basada en los antecedentes perinatales, el peso al nacer, el tiempo de supervivencia y algunos rasgos característicos de cada síndrome. Además, pueden existir, en algunos países, limitaciones para realizar estudios genéticos, por lo que los criterios clínicos pueden ser relevantes.

We report a male infant with midline defects, congenital heart disease and polydactyly, features suggestive of trisomy 13. However, the report of the karyotype was normal. By clinical findings the final diagnosis was likely to be Pseudotrisomy 13. Although the prognosis is poor in both conditions, the genetic study is always necessary to establish an adequate genetic counseling. Although there are syndromes with similar presentation as Meckel syndrome, Smith-Lemli-Opitz syndrome, Pallister-Hall syndrome and hydrolethalus, it is possible to make a diagnostic approach based on the perinatal history, birth weight, survival time, and some characteristics of each syndrome. However, limitations may exist to perform genetic studies in some countries, therefore the clinical criteria may be relevant.

ECLAMC: 41 años de vigilancia de la holoprosencefalia en Chile. Período 1972-2012 / Frequency of holoprosencephaly in Chile

Background: Holoprosencephaly is a structural anomaly of the brain that consists in a defect of the prosencephalon development that leads to face and neurological defects of variable intensity. Aim: To estimate holoprosencephaly prevalence at birth. Patients and Methods: All cases of holoprosencephaly, born alive or stillbirths, registered in the 15 Chilean Hospitals of the Latin American Collaborative Study of Congenital Malformations (ECLAMC) between 1972 and 2012, were studied. Craniofacial and other anomalies found in newborns affected by holoprosencephaly are described. Results: Fifty five cases of holoprosencephaly (58% males) were found among the 798.222 registered births (rendering a prevalence at birth of 0.69 per 10.000 newborns). The most common cranial defect was medial cleft lip with cleft palate (27.3%), bilateral cleft lip (11%) or both (38.2%), cyclopia (14%), single nostril (10.9%) and proboscis (9.1%). Eleven percent cases had a trisomy 13. A slight increase in prevalence over time was observed. Conclusions: Holoprosencephaly has a low frequency in Chile and is associated to trisomy 13. The increase in prevalence could be explained by a better prenatal diagnosis (ultrasonography).

Limitación/adecuación del esfuerzo terapéutico en pediatría / Limitation/adequacy of therapeutic effort in pediatrics

En niños con condiciones de salud que amenazan sus vidas, el trayecto de la enfermedad puede llevar, en ocasiones, a que los profesionales de la salud y las familias se pregunten si continuar los tratamientos representa la mejor opción para el niño. A veces, limitar o suspender las medidas de soporte vital resulta más apropiado, especialmente si el tratamiento sólo preserva la existencia biológica o si el objetivo global del cuidado ha cambiado a “solamente mantener el confort”. Se presenta el caso de un niño portador de encefalopatía crónica en etapa terminal, en el cual se implementaron medidas de adecuación del esfuerzo terapéutico con el objetivo de permitir una muerte digna. Se describe el proceso de toma de decisiones conjunta con los padres, la forma de registro médico y las principales medidas de cuidado al final de la vida.

Sometimes, the disease trajectory in children with life threatening conditions can lead health professionals and families to wonder whether continuing treatment is the best option for the child. Occasionally, limiting or discontinuing life support measures is advisable, especially if treatment only preserves biological existence or the overall goal of care has shifted to just “maintaining comfort”. The study presents the case of a child with chronic encephalopathy in terminal stadium, for whom measures of therapeutic adequacy were implemented with the aim of allowing a quite death. The shared decision-making process, the medical record document and the main measures of care at end of life are described.

Absence of the lateral and third ventricles associated with holoprosencephaly / 대한해부학회지

We describe a 6-month-old boy suffering from motor and mental retardation. All radiological features were suggestive of holoprosencephaly with no identifiable lateral or third ventricles and fusion of the thalami.

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

Frequency of prenatal central nervous system anomalies detected by ultrasound in a tertiary care hospital

Ultrasound is an effective and noninvasive modality for the prenatal diagnosis of central nervous system anomalies and thus helps in deciding about therapeutic termination. To determine the frequency of central nervous system anomalies using perinatal ultrasound in a tertiary care hospital. Pakistan Institute of Medical Sciences, Islamabad, one year [June 2011 to May 2012] Eleven Thousand Five Hundred [11500] pregnant women referred by obstetricians and gynecologists for routine anomaly scan. Women with fetuses that had anatomical anomalies in non CNS structures [rest of the body] were excluded. Antenatal ultrasound was done by consultant radiologist using high resolution ultrasound unit. Out of 11, 500 pregnant women, CNS anomalies were detected in 48 cases.They included hydrocephalus in 21 [43.8%] anencephaly in 11 [22.9%], spina bifida in 8 [16%], 02 each [4.1%] with encephalocele, arachnoid cysts, hydranencephaly and 01 each with exencephaly and holoprosencephaly. Prenatal ultrasound is a reliable non invasive method for the diagnosis of central nervous system malformations

Holoprosencefalia: a proposito de un caso / Holoprosencephaly: report a case

Se reporta el caso de una mujer de 22 años de edad, sin antecedentes de importancia. Fue admitida en el hospital, enpródromos de trabajo de parto, gestación de 40 semanas y malformación cerebral: holoprosencefalia semilobar, hipotelorismo, hidronefrosis derecha leve (diagnóstico ecográfico). Es intervenida mediante la operación cesáreaobteniéndose un recién nacido con características de holoprosencefalia siendo lo resaltante el hipotelorismo y laarrinencefalia. No presenta llanto al nacimiento, por lo que se le realiza maniobras de reanimación cardio pulmonar, continùaen mal estado general con periodos de apnea, baja saturación, expansibilidad torácica disminuida, se procede a colocaciónde tubo endotraqueal, administración de adrenalina, es llevada al servicio de unidad de cuidados intensivos pediátricos,presentando en el trayecto dos episodios de paro cardiaco, el menor luego es colocado en ventilador mecánico, no teniendouna buena evolución ,fallece el día siguiente de nacido.

It is reported the case of a woman, 22 years of age, without important background information. She was admitted to the hospital, in premonitory signs of 40 weeks and cerebral malformation: semilbar holoprosencephaly, hipotelorismo, mild right hydronephrosis (sonographic diagnosis). She is operated by the cesarean section obtaining a newborn with characteristics of holoprosencephaly remains what the striking hipotelorismo and arrinencefalia. There is no crying at birth, by what is realized maneuvers cardio pulmonary resuscitation, continues un poor condition general, with periods of apnea, low saturation, chest diminished expansibility, so proceeded to endotracheal tube placement, placement of adrenaline, is taken to the pediatric intensive care units, presenting in the journey two episodes of cardiac arrest, the minor then is placed on mechanical ventilator, not taking a good evolution, dies the net day of birth.

Use of 3D multislide CT in the study of a fetus with cyclopia / Utilización de TC multicorte 3D en el estudio de un feto con ciclopia

Cyclopia is a rare congenital malformation incompatible with life; it is characterized by the presence of a single eye in the center position, secondary to alobar holoprosencephaly. Cyclopia etiology is heterogeneous, with a prevalence of 1.05 in 100,000 births. We report a case of cyclopia with sinoftalmía in a fetus of 21 weeks where they use 3D multislice computed tomography as a complementary study.

La ciclopía es una malformación congénita rara e incompatible con la vida, caracterizada por la presencia de un solo ojo en posición central, secundaria a holoprosencefalia alobar. La ciclopía es de etiología heterogénea, con una prevalencia de 1,05 en 100000 nacimientos. Presentamos un caso de ciclopía con sinoftalmía en un feto de 21 semanas en donde se utilizo tomografía computarizada multicorte 3D como estudio complementario.

Profound hypernatremia due to central diabetes insipidus

Diabetes insipidus is a rare endocrine disorder in paediatric patients. Polyuria is a cardinal manifestation that is extremely difficult to recognize in diapered infants. Careful urine quantification is the key to diagnosis in appropriate clinical setting. We report a case of a 4 months old infant presenting with an acute life threatening event following an episode of vomiting and decreased oral intake. She had profound hypernatremia which persisted after stabilization. Polyuria unrecognized by the mother was revealed by 24-hour urine output measurement. A diagnosis of diabetes insipidus was made after appropriate laboratory investigations including serum and urine osmolality. The central nature of the disease was confirmed by neuroimaging which showed holoprosencephaly