Postnatal evaluation of schizencephaly by transfontanellar three-dimensional sonography.

Schizencephaly is a rare anomaly of neuronal migration characterized by the presence of brain clefts that communicate with the lateral ventricles. Type I is characterized by clefts with fused lips or margins, not communicating with the subarachnoid space. Type II is characterized by longer clefts that communicate with the subarachnoid space. Neonatal diagnosis of schizencephaly on transfontanellar two-dimensional (2D) sonography is rare, with only 1 report in the medical literature. The major limitation of 2D sonography is its inability to assess neonatal prognosis. There are no reports on MEDLINE about the use of transfontanellar three-dimensional (3D) sonography in the assessment of schizencephaly. We present a case of type II schizencephaly diagnosed on the 29th week of gestation with 2D sonography and describe the main findings with 3D sonography in surface and transparency modes performed in the neonatal period via the fontanel.

Dravet syndrome: a study of 53 patients.

OBJECTIVE: We analyzed the electroclinical features, treatment and evolution of patients with Dravet syndrome (DS). MATERIAL AND METHODS: We evaluated the clinical records of 53 patients that met the diagnostic criteria of DS according to the ILAE classification of 1989 seen at our center between February 1990 and December 2004. RESULTS: Thirty-four male and 19 female patients met the diagnostic criteria of DS. Mean time of follow-up was 10 years. The mean age at onset was 6 months and in all patients the seizures were associated with febrile illness. Myoclonias were found in 39 children. These seizures appeared between the ages of 1 and 5.5 years, with an average of 1 year and 5 months. The seizures were difficult to control with AEDs. All patients presented some degree of mental delay. At the age of 6 years, one of the children in our series presented kinesigenic paroxysmal dyskinesias. Twenty patients were placed on the ketogenic diet (KD). Two did not tolerate the KD and the diet was ineffective in five cases. The other 13 showed different degrees of control of seizures. CONCLUSION: The present study confirms the severity and intractability of the seizures and the difficulties to make an early diagnosis in DS. The onset of febrile seizures or seizures related to infectious disease or vaccination, focal or generalized, prolonged in time and during the first year of life, is especially suggestive of DS. The final diagnosis is usually made after 2 or 3 years when the electroclinical picture is complete, but earlier diagnosis is desirable. Myoclonias are the most representative type of non-febrile seizures in this syndrome but are not always present. Cognitive development is poor in all patients. Treatment with the KD should be considered early. A ion-channel disorder could explain the association between DS and paroxysmal diskinesias, as seen in one of our patients.

Schizencephaly with occlusion or absence of middle cerebral artery.

In a study of 160 infants with prenatal and/or perinatal risk factors for brain damage, we observed three cases of schizencephaly. All cases were unilateral, and the clefts had open lips. In two cases, magnetic resonance angiography showed occlusion or absence of the middle cerebral artery (MCA) on the affected side. Two of the patients, including one with absent flow in the MCA of the affected side, had ipsilateral cerebellar atrophy.

Expansión del espacio subaracnoideo en el niño / Enlargement of subarachnoid space in child

Se presentan dos casos de niños referidos a consulta de neurocirugía por macrocranea y dilatación de los espacios subaracnoideos en la convexidad y cisternas basales. Ambos evolucionan con resolución espontánea de esta anomalía, demostrada y seguida con tomografía computarizada (TC) y resonancia magnética (RM). Sin alteraciones significativas en su desarrollo psicosomático

Hipertrofia ou alargamento benigno do espaço subaracnóide / Hyphertrophy or benign lenghtening of subaracnoidal space

Relata-se caso de macrocefalia relacionada ao alargamento benigno do espaço subaracnóide. Discutem-se os achados clínicos, etiopatogenia e manuseio dessa condiçäo. Salienta-se a importância do diagnóstico radiológico (tomografia computadorizada) e evoluçäo caracteristicamente favorável dos pacientes

Subarachnoid fluid collections: a cause of macrocrania in preterm infants.

We report the outcome of 12 very low birth weight infants with macrocrania caused by subarachnoid fluid collections. By the age of 15 to 18 months, head growth had stabilized along a curve above and parallel to the 95th percentile. No infant required neurosurgical intervention, nor was cerebral palsy or mental retardation diagnosed in any of the infants.

Follow-up study of macrocephalic children with enlargement of the subarachnoid space

Trata-se de estudo prospectivo de 18 crianças com macrocefalia por aumento do espaço sub-aracnóideo, com ou sem dilataçäo ventricular, seguidas até idade em média de 56 meses. Todas nasceram a termo, sem intercorrências perinatais e com testes negativos para TORCH. O tempo médio de seguimento foi 46 meses. Havia 17 meninos e apenas uma menina no grupo estudado. A porcentagem de anormalidades neurológicas no seguimento foi de 11%. Durante o seguimento, o perímetro cefálico retornou aos níveis da normalidade em 45% das crianças. Nenhum caso desenvolveu hipertensäo intracraniana durante o estudo. Todas as crianças realizaram TAC de crânio como parte da avaliaçäo inicial e, além do aumento do espaço sub-encefálico, 77% delas apresentavam discreta dilataçäo ventricular. No seguimento, 11 realizaram TAC de controle que revelaram resoluçäo completa do processo em 3 casos, melhora em 2 e permaneceram inalteradas em 6. Concluimos que o aumento do espaço sub-aracnóideo em crianças macrocefálicas é entidade que apresenta bom prognóstico neurológico na maioria dos casos e que a macrocefalia e o aumento do sub-aracnódeo continuaräo presentes, na maioria das crianças, no seguimento a longo prazo

[The neuroevolutionary profile of the nursing infant with macrocephaly and benign enlargement of the subarachnoid space]. / Perfil neuroevolutivo del lactante con macrocefalia y ensanchamiento benigno del espacio subaracnoideo.

With the purpose of studying the neuroevolutionary prognosis of children with macrocephaly (percentile 95) and the widening of the subarachnoid space, identified using head CAT scans-five cases were selected from the Pediatric-Neurology Department from the Teaching Regional Hospital of Trujillo-Perú, seen during January 1983 and January 1988 with a follow-up of 1 and 1/2 and 3 years. All of the children showed an abnormal separation of the frontal subarachnoid space, interhemispheric fissure and Silvio incision without ventriculomegaly o a minimal dilation of the ventricular system. Through neurological evaluation and the Denver Development Test, in all cases except one, a characteristic pattern of hypotony and gross motor retardation were seen during the first year of life, which was modified towards normality during the following months until the age of 24 to 40 months. This findings suggest the good prognosis and benign nature of this condition which can be spontaneously resolved and apparently related to benign family macrocephaly.

Perfil neuroevolutivo del lactante con macrocefalia y ensanchamiento benigno del espacio subaracnoideo / Neuroevolutionary profile of nursing with macrocephalia and benign widening of the subarachnoid space

Con la finalidad de estudiar el pronóstico neuroevolutivo de los niños con macrocefalia (percentil>95) y ensanchamiento del espacio subaacnoideo identificados por TAC del cráneo, se seleccionaron cinco casos atendidos en el consultorio de Neurología Pediátrica del Hospital Regional Docente de Trujillo, Perú, entre enero de 1983 a enero de 1988 y cuyo seguimiento alcanzó entre 1.5 a 3 años. Todos los lactantes mostraron en la TAC, separación anormal del espacio subaracnoideo frontal, fisura interhemisférica y cisura de Silvio sin ventriculomegalia o mínima dilatación del sistema ventricular. Mediante la evaluación neurológica y la prueba de Desarrollo de Denver se observó en todos los casos, excepto uno, un patrón caracterizado por hipotonía y retardo motor grueso durante el primer año de vida, el cual fue modificándose hacia la normalidad los controles secuenciales hasta la edad de 25 a 40 meses. Estos hallazgos sugieren el buen pronóstico y la benignidad de esta condición que se resuelve espontáneamente y relacionada al parecer con macrocefalia familiar benigna