Hidranencefalia ­ uma doença rara com diagnóstico ultrassonográfico / Hydranencephaly ­ a rare disese with ultrasonographic diagnosis

Introdução: A hidranencefalia é a forma mais grave de destruição cortical cerebral bilateral cujo diagnóstico diferencial inclui hidrocefalia severa, holoprosencefalia alobar e síndrome de Walker-Warburg. É uma anomalia rara, ocorrendo em menos de 1 a cada 10.000 nascimentos em todo o mundo. Objetivo: Relatar um caso raro de hidranencefalia diagnosticado na ultrassonografia obstétrica com correlação com a ultrassonografia transfontanelar e com a tomograRecebido em: 14/03/2019 fia computadorizada. Materiais e Métodos: Revisão do prontuário, registro fotográfico dos métodos diagnósticos e revisão da literatura. Resultados: Paciente do sexo feminino, 33 anos, com 33 semanas e 05 dias de gestação, referindo perda de líquido amniótico. A ultrassonografia obstétrica apresenta importante alteração do parênquima cerebral substituído por líquido cefalorraquidiano; a foice cerebral está presente. Tais alterações são compatíveis com hidranencefalia. Conclusão: Relatamos um caso raro de hidranencefalia comparando o exame pré-natal diagnóstico ­ ultrassonografia obstétrica ­ com os exames pós-natais ­ ultrassonografia transfontanelar e tomografia computadorizada.

Introduction: Hydranencephaly is the most severe form of bilateral cerebral cortical destruction which the differential diagnosis includes severe hydrocephalus, alobar holoprosencephaly and Walker-Warburg syndrome. It is a rare anomaly, occurring in less than 1 per 10,000 births worldwide. Objective: Report a rare case of hydranencephalia diagnosed by obstetric ultrasonography correlated with transfontanelar ultrasonography and computed tomography scan. Materials and Methods: We carried out a review of medical records, photographic record of diagnostic methods, and review from the literature. Results: We report a 33 years-old female patient, with 33 weeks and 05 day of gestation reffering loss of amniotic fluid. Obstetric ultrasonography shows close destruction of the brain parenchyma replaced by cerebrospinal fluid. The falx cerebri is present. Those features are compatible with hydranencephaly. Conclusion: We report a rare case of hydranencephaly comparing prenatal diagnosis - obstetric ultrasonography - with postnatal exams - transfontanelar ultrasonography and computed tomography.

Hemihidranencefalia del hemisferio cerebral izquierdo / Hemihidranencephaly of the left cerebral hemisphere

Paciente de sexo masculino, de 19 años de edad. Antecedentes patológicos prenatales: detección por ecografica de mal formación cerebral del hemisferio cerebral izquierdo. Nació por cesárea, la puntacion de Apgar fue adecuada. Fué sometido a estudios neuroanatómicos por medio de los cuales inicialmente se diagnóstico displasia cortical de tipo esquizencefalia de labio abierto, que se la considero de mal pronóstico de vida. A los 5 años de edad presentó crisis convulsivas por las cuales se diagnosticó epilepsia que motivó iniciar el tratamiento con acido valproico, que lo toma hasta hoy y ha logrado mantener un total control de sus crisis convulsivas. Se solicita un nuevo estudio neuroradiológico por resonancia magnética nuclear del cerebro (Figura 1), que en las diferentes secuencias, muestra remplazo del hemisferio cerebral izquierdo con líquido cefalorraquídeo, aunque persiste algo del manto cerebral occipital y parte del pulvinar del tálamo , que ve hallazgos de hemihidranencefalia. La enseñanza que brinda caso clinico, es que a pesar de establecer una lesion cerebral, independientemente del grado de daño cerebral, no es apropiado adelantar un mal pronositco, como suscedió en este paciente; al contrario, es fundamental dar siempre un real apoyo profesional y moral a la familia, dando la esperanza de que se puede hacer todo lo posible, hasta el final, sin dar malas espectativas de vida.

Tratamiento con desmopresina sublingual en dos lactantes con hidranencefalia y diabetes insípida central / Treatment with sublingual desmopressin in two infants with hydranencephaly and central diabetes insipidus

La diabetes insípida central es una patología infrecuente en pediatría ocasionada por un déficit de vasopresina. Sus manifestaciones clínicas principales son poliuria y polidipsia. Las malformaciones cerebrales son una de las principales causas. La desmopresina es la droga sintética de elección para el tratamiento. Una de las vías de administración es la sublingual y su uso en lactantes es muy limitado. Se describe a dos lactantes con hidranencefalia y diabetes insípida central que fueron tratados satisfactoriamente con desmopresina sublingual.

Central diabetes insipidus is a rare disease in children caused by a deficiency of vasopressin. Its main clinical manifestations are polyuria and polydipsia. Brain malformations are one of the main causes. Desmopressin is the synthetic drug of choice for the treatment. One of the routes of administration is sublingual and its use in infants is very limited. We describe two infants with central diabetes insipidus and hydranencephaly who were successfully treated with sublingual desmopressin.

Application of array comparative genomic hybridization in Korean children under 6 years old with global developmental delay / 소아과

PURPOSE: Recent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH) and the clinical features of 27 patients with global developmental delay. METHODS: We included 27 children who fulfilled the following criteria: Korean children under 6 years with global developmental delay; children who had at least one or more physical or neurological problem other than global developmental delay; and patients in whom both array CGH and G-banded karyotyping tests were performed. RESULTS: Fifteen male and 12 female patients with a mean age of 29.3±17.6 months were included. The most common physical and neurological abnormalities were facial dysmorphism (n=16), epilepsy (n=7), and hypotonia (n=7). Pathogenic copy number variation results were observed in 4 patients (14.8%): 18.73 Mb dup(2)(p24.2p25.3) and 1.62 Mb del(20p13) (patient 1); 22.31 Mb dup(2) (p22.3p25.1) and 4.01 Mb dup(2)(p21p22.1) (patient 2); 12.08 Mb del(4)(q22.1q24) (patient 3); and 1.19 Mb del(1)(q21.1) (patient 4). One patient (3.7%) displayed a variant of uncertain significance. Four patients (14.8%) displayed discordance between G-banded karyotyping and array CGH results. Among patients with normal array CGH results, 4 (16%) revealed brain anomalies such as schizencephaly and hydranencephaly. One patient was diagnosed with Rett syndrome and one with Möbius syndrome. CONCLUSION: As chromosomal microarray can elucidate the cause of previously unexplained developmental delay, it should be considered as a first-tier cytogenetic diagnostic test for children with unexplained developmental delay.

Coagulação endoscópica do plexo coroide no tratamento primário da hidranencefalia e da hidrocefalia extrema / Endoscopic coagulation of the choroid plexus in the primary treatment of extremehydrocephalus and hydranencephaly

Objetivos: Descrever a técnica de coagulação neuroendoscópica do plexo coroide e divulgá-la como opção de tratamento primário da hidranencefalia e da hidrocefalia extrema. Mostrar a casuística de coagulação endoscópica de plexo coroide do Serviço de Neurocirurgia do Hospital da Baleia em BeloHorizonte, MG, Brasil. Métodos: Imagens tomográficas foram avaliadas por um neurocirurgião, sendo selecionadas crianças portadoras de hidranencefalia e hidrocefalia extrema com cavidade ventricular única. Os pacientes foram acompanhados por até três anos no pós-operatório. Resultados: Foram tratadas seis crianças com hidranencefalia e seis com hidrocefalia extrema. Um paciente faleceu na primeira semana de pós-operatório em função de choque hipovolêmico e hipernatremia graves e outro cursou com aumento progressivo do perímetro cefálico e necessidade de derivação ventriculoperitoneal. Um terceiro paciente apresentou óbito tardio não relacionado à cirurgia endoscópica. Os demais apresentaram evolução adequada no pós-operatório. Conclusão: A coagulação endoscópica do plexo coroide mostrou-se alternativa eficaz no tratamento da hidranencefalia e da hidrocefalia extrema.

Objectives: Describing the neuroendoscopic technique for coagulation of the choroid plexus and publicize it as an option for the primary treatment of extreme hydrocephalus and hydranencephaly. Display the series of endoscopic coagulation of the choroid plexus of the Neurosurgery Department of the Hospital da Baleia in Belo Horizonte, MG, Brazil. Methods: Tomographic images were used to select children with hydranencephaly and extreme hydrocephalus with single ventricular cavity. Patients were followed for up to three years postoperatively. Results: Six children with hydranencephaly and six with extreme hydrocephalus were treated. One patient died in the first week postoperatively due to hypovolemic shock and severe hypernatremia and another developed progressive increase in head circumference and the need for ventriculoperitoneal shunt. A third patient had late death unrelated to endoscopic surgery. The others had adequate postoperative evolution. Conclusion: The endoscopiccoagulation of the choroid plexus is an effective alternative in the treatment of extreme hydrocephalus and hydranencephaly

Migración intracraneal de derivativa ventrículoperitoneal en paciente con hidranencefalia: reporte de un caso / Intracraneal migration of ventriculoperitoneal shunt in a patient with hydranecephaly: case report

La migración intracraneal de una derivativa ventrículo peritoneal (DVP) es una rara causa de disfunción valvular. Se presenta el caso de un paciente portador de hidranencefalia congénita con DVP desde el mes de vida, quien fue referido a neurocirugía a la edad de dos años y un mes por somnolencia, vómitos y bradicardia. El estudio con TC de encéfalo y radiografía de trayecto valvular revelaron migración intracraneal de su sistema derivativo, por lo que requirió cirugía de urgencia para retiro del sistema y reemplazo valvular. Inmediatamente posterior a la cirugía el paciente tuvo remisión completa de sus síntomas. A continuación se discuten los posibles mecanismos involucrados en su génesis y las medidas para evitar esta complicación

Intracranial migration of ventriculoperitoneal shunt is an extremely rare complication of hydrocephalus surgery. We present the case of a patient with congenital hydranencephaly treated with ventriculoperitoneal shunt installed elsewhere in the first month of life. He was referred to our center when he was 2 years old. The consulting symptoms were somnolency, vomiting and bradycardia. The image study consisted in a brain CT and chest x-ray that revealed the intracranial migration of his ventriculoperitoneal shunt. The patient was operated with the remotion of his shunting system and a complete new ventriculoperitoneal shunt was installed. Inmediately after surgery the patient had a complete remission of his symptoms. We reviewed the case due to the unusual of the complication and we discussed the possible mechanisms involved in its genesis and the measures to avoid it.

Endoscopic Coagulation of Choroid Plexus in Hydranencephaly

Hydranencephaly is a rare congenital disease defined as an absence of cerebral hemispheres with an intact thalamus, brain stem, and cerebellum. Generally, patients with hydranencephaly require cerebro-spinal fluid diversion due to progressive hydrocephalus. An excellent view of the choroid plexus and advancement of the neurosurgical endoscope were possible, leading to easy coagulation of the choroid plexus to balance cerebro-spinal fluid production without the use of a shunt device. We present this rare case and good treatment outcome from endoscopic coagulation of the choroid plexus.

Doenças hereditárias e defeitos congênitos diagnosticados em búfalos (Bubalus bubalis) no Brasil / Hereditary diseases and congenital defects diagnosed in water buffalo (Bubalus bubalis) in Brazil

A review on hereditary diseases and/or congenital defects diagnosed in water buffaloes in Brazil is performed. The epidemiological, clinical and pathological aspects of each disease or group of diseases are briefly described. Hereditary diseases include acantholytic mechanobullous dermatosis, arthrogryposis, myotonia, hydranencephaly, chondrodysplasia, and albinism. Congenital defects of unknown cause include megaesophagus, heart defects (patent ductus arteriosus), dermatosparaxia, and different defects of the reproductive system. The breeds most affected by genetic diseases are those from Asian Continent (Murrah and Jafarabadi), probably as a result of inbreeding in Brazilian herds due the prohibition of importation of breeding buffalo from that continent. The diagnosis of two hereditary diseases, arthrogryposis and myotonia, in Rio Grande do Sul (southern Brazil) and Pará (nothern Brazil) suggests that the undesirable genes are widespread in the buffalo population. The identification of these genes by molecular techniques associated with the buffalo breeding with correct sanitary, zootechnical, and reproductive control practices can decrease the negative effects of genetic diseases in the Brazilian buffalo herd.

É realizada uma revisão sobre as doenças hereditárias e/ou defeitos congênitos diagnosticados em búfalos no Brasil. São descritos brevemente os aspectos epidemiológicos, clínicos e patológicos de enfermidades hereditárias ou provavelmente hereditárias já observadas no Brasil, como dermatose mecanobolhosa, artrogripose, miotomia, hidranencefalia, condrodisplasia e albinismo; e dos defeitos congênitos que não tem uma causa ainda comprovada como megaesôfago, defeitos cardíacos (persistência do ducto arterioso), dermatosparaxia, defeitos no sistema reprodutivo e outros defeitos. Observou-se que as raças mais afetadas por enfermidades de natureza genética são as que têm origem no Continente Asiático (Murrah e Jafarabadi), provavelmente em consequência da consanguinidade existente nos rebanhos devido a proibição da importação de reprodutores, sêmen e embriões daquele continente. O diagnóstico de duas dessas doenças, artrogripose e miotomia hereditária no Rio Grande do Sul e no Pará, demonstra que os genes indesejáveis estão disseminados na população de búfalos no país e que a identificação desses genes por meio de técnicas moleculares associada à criação desta espécie com maior controle sanitário, reprodutivo e zootécnico pode minimizar os prejuízos decorrentes dessas enfermidades à bubalinocultura.

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

Hidranencefalia en un recién nacido por toxoplasmosis congénita / Hydroanencephalia in a newborn due to congenital toxoplasmosis

A case is described of a full-term newborn with hydroanencephalia due to congenital toxoplasmosis. Prenatal diagnosis had been made. The infection was supposedly acquired in the early stages of the pregnancy, the mother presented positive serology for active infection. The newborn presented elevated specific IgM. Fetal and newborn MRI was compatible with hydrancencephalia. The newborn presented macrocephalia, cataracts, abnormal archaic reflexes, hypotonia, thermoregulation abnormalities, and altered spinal fluid. Due to the severity and rarity of this clinical picture, and an absence of a national detection program, the possibility of offering mothers the possibility of detecting this illness is highlighted.

Se presenta el caso de un recién nacido de término con hidranencefalia por toxoplasmosis congénita con diagnóstico prenatal, el cual habría adquirido su infección en forma precoz durante el embarazo. Destaca madre con serología positiva para infección activa. Recién Nacido (RN) con IgM específica elevada. Resonancia Magnética fetal y del neonato compatible con hidranencefalia. RN con macrocefalia, catarata, reflejos arcaicos anormales, hipotonía, alteración del la termorregulación y LCR alterado. Frente a la gravedad y lo inusual del cuadro clínico y considerando la ausencia de un programa nacional de tamizaje se destaca la importancia de ofrecer a la madre embarazada la posibilidad de detección precoz y prevención de esta enfermedad frente a las severas complicaciones neurológicas de esta infección congénita.

Hidranencefalia: caso clínico / Hydranencephaly: a clinical case

La hidranencefalia pertenece a las encefalopatías del sistema nervioso central. Es un defecto grave de la perfusión cerebral que produce una destrucción tardía de los territorios irrigados por ambas arterias carótidas internas, con preservación de los territorios irrigados por las arterias vertebro basilares. El conocimiento de esta encefalopatía por el odontopediatra permitirá tratar adecuadamente al paciente y realizar un tratamiento exitoso, mejorando su calidad de vida. Se presenta el caso clínico de un niño al que durante el quinto mes de vida intrauterina le fue realizada una ecografía donde se diagnosticó la encefalopatía.

A Case of Preterm Newborn with Hydranencephaly, from an Adolescent, Unmarried Woman who had No Antenatal Care / 대한주산의학회잡지

Hydranencephaly is a term used to describe a group of brain malformations in regard to developing any brain remnants. With most of the cerebral cortex absent, the cerebral hemispheres are replaced by cerebrospinal fluid (CSF), covered with leptomeninges and dura. Hydranencephaly is a rare isolated abnormality occurring in less than 1 per 10,000 births. With the cutting edged sonography, most of the hydranencephalies are screened in antenatal care. Therefore, it is very rare to observe a living preterm with hydranencephaly. From a history of a young, 19-year-old pregnant woman who did not look for the antenatal care, we found out that it was her first pregnancy, she was unmarried and intermittently had alcohol during the pregnancy. After home delivery, a preterm newborn assumed to be 28 weeks of gestational age was placed under surfactant therapy because of respiratory distress syndrome, and then received a mechanical ventilation. Brain sonography showed that most of the cerebral parenchyma, cortical tissue was absent at the 5th day after the birth. Magnetic resonance images (MRI) of brain showed that almost complete absence of cerebrum which was replaced by CSF, hydranencephaly at 81th days from birth. In summary, we report a preterm newborn with hydranencephaly from an adolescent, unmarried woman who had no antenatal care.

Brain-in-Brain Artifact (BIBA) in a Patient with Hydranencepaly: A Case Report

Hydranencephaly is a condition that is characterized by an absent brain mantle along with the subadjacent white matter, with replacement of the cerebral hemispheres by a thin-walled membranous sac containing CSF. During brain sonograpy in a neonate with hydranencephaly, we have found a brain-in-brain appearance as an unusual sonographic artifact. We report here on this interesting sonographic artifact in a neonate with hydranencephaly, and this artifact was due to multipath reflection artifact of the ultrasound beam/wave, and we explain the underlying physics.

A Case of Hydranencephaly With Exotropia

PURPOSE: To report a large-angle exotropia, limited adduction, epiblepharon, high myopia and no pupillary light reflex in a patient with hydranencephaly. CASE SUMMARY: A ten-year-old girl with mental retardation presented with exotropia. The patient could fix only with the right eye and was unable to follow with either eye. The Krimsky test revealed 95 prism diopters of exotropia, and adduction was severely limited in both eyes. Pupillary light reflex was absent in both eyes. Cycloplegic refraction showed high myopia in both eyes. Slit lamp examination revealed lower lid epiblepharon and inferior corneal opacity in the right eye. No abnormal findings in the fundus examination were detected. A computed tomogram of the brain showed that the cerebral hemispheres were replaced by a cystic space filled with cerebrospinal fluid, compatible with hydranencephaly. Recession of the lateral rectus muscle and resection of the medial rectus muscle with epiblepharon repair of the lower lid were performed in both eyes. One week postoperatively, the epiblepharon was corrected, and the Krimsky test showed 16 prism diopters of left intermittent exotropia at near. CONCLUSIONS: When a combined manifestation of mental retardation, limited adduction, no pupillary light reflex and a large-angle exotropia is present, the possibility of a congenital developmental anomaly of the central nervous system including hydranencephaly should be suspected.

Hemihydranencephaly; a case report

Hemihydranencephaly is a rare disorder of the brain characterized by complete or almost complete unilateral absence of cerebral cortex with preservation of meninges, basal ganglia, pons, medulla, cerebellum, and falx. Thirteen year-old male child presented with left sided upper and lower limb weakness with facial asymmetry since the age of six months. His magnetic resonance imaging [MRI] scans demonstrated a nearly complete absence of the right cerebral hemisphere including basal ganglion, which was replaced by cerebrospinal fluid with a small residual rim of the occipital cortex. The imaging features were suggestive of right-sided hemihydranencephaly. Patients with hemihydranencephaly provide an experiment of nature with potential implications for normal cognitive development and illustrate how much there is still to be learned about human development

Uso inadecuado de misoprostol. ¿Un problema de salud pública? / Inadequate use of misoprostol. A public health problem?

Introducción: La exposición prenatal a misoprostol durante el primer trimestre se ha asociado con malformaciones congénitas. En los últimos años se informó un aumento en la detección de defectos por disrupción vascular que se asociaron con la exposición prenatal de misoprostol. Métodos: Se describen las características fenotípicas de 7 nuevos pacientes nacidos en Cali, que consultaron la Clínica de Dismorfología del HUV desde mayo de 2005 por presentar malformaciones congénitas asociadas con la exposición prenatal de misoprostol. Resultados: Los diagnósticosá finales de los 9 pacientes incluidos en el estudio son: síndrome de Moebius (3), síndrome de hipoglosia-hipodactilia (1), ciclopíaá(1), gastrosquisis (1), microcefalia (1), secuencia de Klippel Fiel (1) e hidranencefalia (1). La exposición a misoprostol ocurrió entre las semanas 4 a 14 de gestación a dosis que oscilan entre 800 y 1,000 mg. Discusión: Recientemente se informaron 11 casos de malformaciones congénitas relacionadas con la exposición a misoprostol en la Clínica del HUV, que se evaluaron en un período de 4 a±os. Ahora se comunican 7 nuevos casos en dos a±os mßs, lo que sugiere una tendencia aumentar la asociación de malformaciones congénitas y misoprostol. Este artículo muestra la detección creciente de malformaciones congénitas que se asocian con la exposición a misoprostol con fines abortivos en el primer trimestre del embarazo. Las malformaciones observadas no corresponden sólo el síndrome de Moebius, sino a otros defectos de disrupción vascular como gastrosquisis, hipoglosia-hipodactilia e hidranencefalia.

Introduction: The prenatal exposition to misoprostol during the first trimester has been associated to congenital malformations. In the last years it has been reported an increase in the detection of defects by vascular disruption associated with prenatal exposition of misoprostol. Methods: It is described the phenotypic characteristics of 7 new patients born in Cali, who consulted the dysmorphology clinic of the HUV since May of 2005 due to the presence of congenital malformations associated with prenatal exposition to misoprostol. Results: The final diagnoses of the 9 patients included in this study are: Moebius syndrome (3), hypoglosia-hypodactilia syndrome (1), cyclopia (1), gastroschisis (1), microcephaly (1), Klippel Fiel sequence (1) and hydranencephaly (1). The exposition to misoprostol appeared during gestation weeks 4 to 14 to doses between 800 and 1,000 mg, Discussion: Recently 11 cases of congenital malformations related to the exposition to misoprostol had been reported in this hospital. These cases were discovered in a period of 4 years; now the present paper reports 7 new cases in a period of 2 years. This fact suggests an increasing tendency to congenital malformations due to the associationá with misoprostol used as an abortive during the first pregnancy trimester.á The observed malformations do not correspond only to Moebius syndrome, but to other vascular disruption defects like gastroschisis, hypoglosia-hypodactilia and hydranencephaly.

Prolonged Survival of an Adult with Hydranencephaly / 대한소아신경학회지

Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid. The prognosis for children with hydranencephaly is generally poor, so many children with this disorder die before the age of 1 year. We experienced a patient with hydranencephaly who showed prolonged survival until age of 22 years. To our limited knowledge, this case may be the longest survival of a patient with hydranencephaly in the world.

Intrauterine fetal death of one of the twins; coexisting with hydranencephaly in the surviving co-twin: A case report

Hydranencephaly; a relatively rare malformation of the brain; is characterised by absence of the cerebral hemispheres and their replacement by sacs filled with cerebrospinal fluid. It is one of the recognised forms of intracranial malformations associated with intrauterine fetal demise of one of twins in monochorionic twin gestation. This report illustrates the development of hydranencephaly in a surviving twin sequel to intrauterine fetal demise of the co-twin

Ultrasonografía transfontanelar en las malformaciones del desarrollo del SNC en neonatos / Transfontanelar ultrasound in CNS malformations

Propósito. Demostrar el valor de la Ultrasonografía (US) en el diagnóstico precoz de las malformaciones del desarrollo del sistema nervioso central y determinar la incidencia de las mismas en la población estudiada. Material y métodos. Desde abril de 1999 a abril de 2003 fueron realizadas por el mismo operador 5726 ecografías cerebrales de primera vez con transductores microconvex de 5 y 6 MHz por vía trans-fontanelar. Presentamos un análisis retrospectivo de las mismas referidas solamente a la detección de malformaciones del desarrollo cerebral en niños de 0 solicitadas por diferentes motivos. Se excluyeron las alteraciones cerebrales secundarias a patologías que no inciden en el desarrollo del SNC. (Hipoxia, encefalopatía, atrofia, etc.). Resultados. Se detectaron 118 malformaciones estructurales del desarrollo cerebral (2 por ciento). Siendo su frecuencia la siguiente: Hidrocefalia, 40 casos (34 por ciento); Agenesia parcial o total de cuerpo calloso, 19 (16 por ciento); Hidranencefalia, 13 (11 por ciento); Encefalocele, 12 (10 por ciento); Holoprosencefalia, 11 (9,3 por ciento); Complejo Dandy Walker, 10 (8,5 por ciento); Agenesia de Septum, 5 (4,2 por ciento); Esquisencefalia, 3 (2,5 por ciento); Lipomas intracraneanos, 2 (1,6 por ciento); Malformación Vascular de la fosa posterior, 1 (0,8 por ciento); Quiste aracnoideo, 1 (0,8 por ciento) y la asociación de Dandy Walker con Holoprosencefalia en un paciente, 1 (0,8 por ciento)...