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Niikawa-Kuroki, or Kabuki syndrome (KS), is characterized by distinctive facial features, skeletal anomalies, persisting fingertip pads with dermatoglyphic abnormalities, short stature, and mental retardation. Neurological manifestations and CNS anomalies have been described in some patients with this condition. However, craniosynostosis has been documented in only 4 patients with KS who did not undergo operations. The authors report a case of KS with unicoronal synostosis that constitutes the first documented instance of a patient with this syndrome submitted to surgery. Previous reported instances of craniosynostosis occurring in KS are briefly reviewed. Although rarely documented, craniosynostosis might represent a relatively frequent feature of this syndrome. Kabuki syndrome should be considered at the time of evaluating children with craniosynostosis. The diagnosis of KS can be suspected from the patients' characteristic facial features. Kabuki syndrome appears to be an underdiagnosed condition in the craniosynostosis population. Given that most patients with this syndrome suffer from only mild to moderate mental retardation, surgical correction can be considered in instances of KS with craniosynostosis.

Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is a newly described condition characterized by macrocephaly (megalencephaly), cutis marmorata telangiectatica congenita, macrosomia and/or asymmetric growth, central nervous system abnormalities and neurological manifestations.This condition is usually documented in the Genetics' literature but it has been scarcely disseminated among neurosurgeons. Sudden death of uncertain origin has been reported in children with M-CMTC. Hydrocephalus and tonsillar herniation often occur in this syndrome. The appearance of symptoms and signs of intracranial hypertension or of brain stem compression in M-CMTC patients may herald the development of irreversible neurological damage or death.We report two children diagnosed with M-CMTC and hydrocephalus who were given a ventriculo-peritoneal shunt. In addition, one of them exhibited tonsillar herniation.Given the high incidence of hydrocephalus and/or tonsillar herniation that occurs in M-CMTC, serial neuroimaging studies and neurosurgical referral seem to be warranted in children with this syndrome.

Cerebrospinal fluid (CSF) overdrainage in hydrocephalus is well recognized. Overshunting following cysto-peritoneal (CP) drainage in patients with arachnoid cysts (AC) is rarely documented. We report five patients with acquired Chiari malformation I and three with posterior fossa overcrowding due to excessive CSF drainage in shunted intracranial ACs. We review our observations and discuss the current knowledge on the pathogenesis and management of this complication. The medical records of the eight patients were analyzed in regard to clinical manifestation, cyst and shunt characteristics, management, and outcomes. Mean age of the patients was 5.5 years. After an average interval of 5 years, five patients developed symptoms related to hindbrain herniation and three to severe shunt overdrainage following CP shunting. Several management modalities were utilized that achieved a good result in seven instances. Some shunted ACs may evolve with overdrainage syndromes. Posterior fossa overcrowding and tonsillar herniation constitute their most severe forms. CSF hypotension, bone changes, venous engorgement, and probably cerebral chronic edema at the posterior fossa constitute the main factors involved in the pathogenesis of this entity. We also review previous instances of acquired Chiari malformation originating after AC shunting. Posterior fossa overcrowding and acquired Chiari I malformation can develop after excessive CSF drainage of intracranial ACs. Overshunting manifestations require prompt recognition and management. Preventive measures consist of making a stringent selection of cases being considered for surgery, avoiding CP drainage, and placing of a programmable valve as initial treatment of intracranial ACs if shunting is considered.

Two patients with intracranial arachnoid cysts, one with myelomeningocele-hydrocephalus and the other with a subdural fluid collection, were given a cerebrospinal (CSF) extracranial shunt. All four patients developed features of CSF overdrainage following shunting and were treated by cranial vault expanding procedures. Before undergoing decompressive craniotomy, the patients were treated by a variety of procedures, including changing of obstructed ventricular catheters (n=4), insertion or upgrading of programmable valves (n=3), and foramen magnum decompression (n=1). Clinical manifestations of these four patients were attributed to craniocerebral disproportion caused by chronic and progressive skull changes due to dampening of the CSF pulse pressure, which is necessary for maintaining normal cranial growth. On the basis of our previous experience with expanding craniotomies in cases of minimal forms of craniosynostosis, we treated these patients with bilateral parietal craniotomies, with satisfactory results. In conclusion, biparietal decompressive craniotomy constitutes a useful and safe procedure for relieving the clinical manifestations of some CSF overdrainage syndromes, especially in cases with slit-ventricle syndrome and craniocerebral disproportion that prove to be refractory to simpler management procedures.

The authors illustrate the cases of two children with headaches, one diagnosed with Chiari type 1 malformation and the other with hydrocephalus, who played wind instruments. Both patients manifested that their headaches worsened with the efforts made during playing their musical instruments. We briefly comment on the probable role played by this activity on the patients’ intracranial pressure and hypothesize that the headaches might be influenced by increases in their intracranial pressure related to Valsalva maneuvers. We had serious doubts on if we should advise our young patients about giving up playing their music instruments.

Niikawa-Kuroki, or Kabuki syndrome (KS), is characterized by distinctive facial features, skeletal anomalies, persisting fingertip pads with dermatoglyphic abnormalities, short stature, and mental retardation. Neurological manifestations and CNS anomalies have been described in some patients with this condition. However, craniosynostosis has been documented in only 4 patients with KS who did not undergo operations. The authors report a case of KS with unicoronal synostosis that constitutes the first documented instance of a patient with this syndrome submitted to surgery. Previous reported instances of craniosynostosis occurring in KS are briefly reviewed. Although rarely documented, craniosynostosis might represent a relatively frequent feature of this syndrome. Kabuki syndrome should be considered at the time of evaluating children with craniosynostosis. The diagnosis of KS can be suspected from the patients' characteristic facial features. Kabuki syndrome appears to be an underdiagnosed condition in the craniosynostosis population. Given that most patients with this syndrome suffer from only mild to moderate mental retardation, surgical correction can be considered in instances of KS with craniosynostosis.

Shunt malfunction typically presents with headaches, vomiting, and impaired consciousness. Paraparesis has been rarely reported as the initial manifestation of valve dysfunction.A 17-year-old boy was admitted with invalidating quadriparesis that after neuroimaging evaluation was found to be produced by communicating syringomyelia attributed to shunt malfunction.Persistence of the central canal in association with communicating hydrocephalus may lead to the development of communicating syringomyelia. In this context, insufficient drainage of CSF produced by shunt dysfunction may evolve exclusively with symptoms and signs of spinal cord involvement in the absence of the usual cerebral manifestations related to shunt failure.

Resumen La radionecrosis y el edema cerebral son complicaciones asociadas a la radiocirugia. Presentamos los casos de tres pacientes tratadas con radiocirugia mediante acelerador lineal, de un meningioma de polo frontal izquierdo, penasco y parasagital parietooccipital, respectivamente, que desarrollaron, entre dos y ocho meses mas tarde, lesiones de tipo radionecrotico con extenso edema peritumoral que resultaron resistentes al tratamiento con esteroides y que se han resuelto con la administracion de 40 sesiones de oxigeno hiperbarico. Son pocos los casos publicados hasta ahora en la literatura con tan excelentes resultados, por lo que consideramos un hecho a tener muy en cuenta ante las posibles complicaciones de este tipo que puedan presentarse en el transcurso de la practica radioquirurgica antes de recurrir a la cirugia.

Massive hemorrhage is a very uncommon event among hemangioblastomas. Forty-four cases have been reported before this review. Thorough analysis of all reported cases on literature was accomplished. The majority presented as parenchymatous or subarachnoid bleedings. Subarachnoid hemorrhage was only associated with spinal hemangioblastomas, while parenchymatous bleedings were more, but not only, originated from cranial instances. Ventricular hemorrhage from a hemangioblastoma was exceptional, with only two previous cases bleeding directly into the ventricular compartment. To our knowledge, the illustrative case is the first one of pure tetraventricular hemorrhage from a hemangioblastoma. When hemangioblastoma bleeding occurs, it is usually the very first clinical presentation of a previously undetected tumor. Solid type, large size, and spinal-radicular locations are more frequently related to hemorrhage. Hemorrhage following hemangioblastoma embolization and the association of this tumor with other bleeding lesions, such as arteriovenous malformations and aneurysms, is also discussed.

Summary Background Some reports have documented posterior fossa cysts resulting in syringomyelic obstruction of cerebrospinal fluid (CSF) flow caused by cyst displacement within the foramen magnum. Rarely the syringomyelia is caused by acquired Chiari malformation due to a retrocerebellar arachnoid cyst. Objective To report the case of a 38-year-old man with hydrocephalus and syringomyelia, who was found to have a Chiari malformation secondary to a posterior fossa arachnoid cyst. After endoscopic third ventriculostomy, the patient was submitted to foramen magnum decompression and arachnoid cyst removal that were followed by resolution of both the Chiari malformation and the syringomyelia. Discussion In most published cases the syringomyelia has been attributed to obstruction of CSF flow at the foramen magnum by the arachnoid cyst itself. There is only one previous report of a posterior fossa arachnoid cyst producing tonsillar descent and syringomyelia. Conclusions Posterior fossa arachnoid cysts can result in acquired Chiari malformation and syringomyelia. In our view, the management of these patients should be directed at decompressing the foramen magnum and include the removal of the walls of the coexistent arachnoid cyst as it seems to be the crucial factor that accounts for the development of the syringomyelia that these patients present.

Antecedentes. La medula espinal puede fijarse tras la reparacion inicial en pacientes operados de mielomeningocele (MMC) y lipomeningocele (LMC), produciendo graves lesiones fisicas y psicologicas. Asimismo, la introduccion accidental de restos cutaneos durante la reparacion de estas lesiones puede dar lugar al desarrollo de tumores intraespinales de estirpe cutanea. Objetivos. Averiguar la incidencia del anclaje medular tras la cirugia de MMC y LMC y analizar los factores que puedan explicar su aparicion. Tambien, investigamos las maniobras tecnicas durante la operacion primaria susceptibles de evitar la aparicion del sindrome de medula fijada. Pacientes y metodos. Revision retrospectiva de las historias de los pacientes operados de MMC (n=162) y de espina bifida oculta (n=54) en el periodo 1975-2005 que desarrollaron cuadros de anclaje medular sintomatico. Resultados. Once pacientes con MMC (6,79%) y dos con LMC (3,7%) presentaron manifestaciones de anclaje medular tras intervalos de 2 a 37 anos despues de la reparacion primaria. Las indicaciones de reintervencion se basaron fundamentalmente en criterios clinicos. Un hallazgo constante fue la fibrosis cicatricial que estuvo presente en todos los casos. Otros hallazgos operatorios causantes de la fijacion medular consistieron en tumores cutaneos de inclusion (n=3), reacciones de cuerpo extrano (n=2), estenosis del canal lumbar (n=2), restos de lipoma (n=1), y filum hialinizado (n=1). En 3 casos de MMC se encontro ademas un quiste epidermoide intradural (1,85% de los MMC), lo que supone una tasa de epidermoides en la reintervencion de MMC de 27%. El periodo medio de seguimiento fue de 5,5 anos y los resultados fueron: mejoria en 8, dos no experimentaron cambios, y uno sufrio empeoramiento. Conclusiones. El deterioro neurologico de los pacientes operados de MMC o LMC no constituye una consecuencia obligada o parte de la historia natural de estos procesos. El deterioro, precoz o tardio, puede estar motivado por el anclaje posquirurgico de la medula espinal. Ello hace necesario realizar un seguimiento periodico de estos pacientes, acompanado de los oportunos estudios de neuroimagen y, en su caso, de exploracion quirurgica. Los resultados fueron satisfactorios, ya que el 92% de los pacientes reoperados experimentaron mejoria o estabilizacion de su enfermedad. Se describen ademas dos causas infrecuentemente descritas de deterioro tardio: la estenosis del canal y las reacciones fibrosas de cuerpo extrano a materiales implantados.