Porencefalia congénita en un lactante / Congenital porencephaly in an infant

RESUMEN La porencefalia es un trastorno extremadamente poco común del sistema nervioso central, que involucra un quiste o una cavidad en un hemisferio cerebral. Desde el punto de vista clínico, genera déficits motor y conductual, y afecta el desarrollo psicomotor normal. El objetivo de esta investigación fue referir los elementos clínicos y de diagnóstico en un lactante con porencefalia. Se presenta un lactante masculino de siete meses de edad, que fue atendido en consulta de Pediatría por presentar retardo del desarrollo psicomotor y hemiparesia derecha. Se valoró en equipo multidisciplinario con las especialidades de Neurología, Neurocirugía e Imagenología. Según los datos clínicos y los resultados de la tomografía axial computarizada de cráneo, se concluyó como porencefalia. Debido a la rareza de aparición y presentación atípica de esta afección, la porencefalia significa un desafío para los médicos pues se sabe muy poco sobre su patogénesis y tratamiento adecuado.

ABSTRACT Porencephaly is an extremely rare disorder of the central nervous system, involving a cyst or cavity in one cerebral hemisphere. Clinically, it causes motor and behavioural deficits and affects normal psychomotor development. The aim of this research was to report clinical and diagnostic features of an infant with porencephaly. We present a seven-month-old male infant who was seen in the Paediatrics consultation due to a psychomotor developmental delay and right hemiparesis. He was assessed by a multidisciplinary team with the Neurology, Neurosurgery and Imaging specialties. It was concluded to be porencephaly based on the clinical data and the results of the cranial computed axial tomography scan. Porencephaly is a challenge for physicians as little is known about its pathogenesis and appropriate treatment due to the rarity of occurrence and atypical presentation of this condition.

Epilepsia por porencefalia familiar: hallazgos clínicos, electroencefalográficos y de resonancia magnética / Familial porencephaly epilepsy: clinical, EEG and MRI findings

La porencefalia familiar es un trastorno genético raro que produce quistes porencefálico, los cuales son secundarios a un infarto vascular prenatal o perinatal. La hemiparesia congénita, el retardo mental y la epilepsia de grado variable son las manifestaciones más frecuentes. Se describe el caso de dos hermanos, uno varón y la otra mujer, quienes presentan hallazgos en imágenes de resonancia magnética cerebral de quistes porencefálicos extensos que comprometen las regiones fronto-parieto-temporales de un hemisferio distinto en cada uno. Ambos presentaban hemiparesia congénita, retardo mental y epilepsia medicamente tratable con hallazgos electro-clínicos, de imágenes y neuropsicológicos que permitieron localizar la zona epileptogénica sobre la región dorsolateral del lóbulo frontal yacente al quiste porencefálico. En pacientes con hemiparesia congénita, retardo mental y epilepsia con quiste porencefálico se debe considerar la posibilidad de porencefalia familiar e indagar antecedentes familiares de este trastorno.

Familial porencephaly is a rare genetic disorder resulting in porencephalic cysts, which are secondary to prenatal or perinatal vascular infarction. Congenital hemiparesis, mental retardation, and epilepsy in variable degrees are the most frequent manifestations. We describe the case of two siblings, one male and the other female, who present findings in brain magnetic resonance imaging of extensive porencephalic cysts that compromise the fronto-parietal- temporal regions of a different hemisphere in each. Both presented congenital hemiparesis, mental retardation and medically treatable epilepsy with electro-clinical, imaging and neuropsychological findings allowed to locate the epileptogenic zone on the dorsolateral region of the frontal lobe lying to the porencephalic cyst. In patients with congenital hemiparesis, mental retardation and epilepsy with porencephalic cyst, the possibility of familial porencephaly should be considered and a family history of this disorder should be investigated.

Fractura evolutiva: colocación de sistema derivativo cisto-peritoneal y corrección diferida: a propósito de un caso / Growing skull fracture: positioning system cisto-peritoneal derivative and correction deferred: report of a case

Describimos el caso de una paciente femenina de 5 años de edad, con antecedente de fractura craneal asociado a trauma directo en su segundo día de vida, posteriormente se diagnostica quistes porencefálico y aracnoideo frontoparietal izquierdo a los 3 meses de edad. Fue tratada en un primer momento con la colocación de sistema derivativo cistoperitoneal, y se le realizaron estudios de imágenes de seguimiento. A los 5 años de edad es traída a consulta de nuestro servicio de neurocirugía, por presentar deformidad calvarial en la superficie frontoparietal izquierda. El seguimiento con tomografía de cráneo demostró un cese relativo en la progresión en las dimensiones del quiste porencefálico y aumento del espacio entre los bordes óseos de la fractura. La paciente fue llevada a mesa operatoria, en la cual se realizó un abordaje hemicoronal izquierdo con resección de tejido gliótico, duroplastia con pericráneo y colocación de craneoplastía con tejido óseo craneal autólogo. El seguimiento al mes de la intervención correctiva mostró evolución satisfactoria y sin complicaciones. La cirugía correctiva de la fractura evolutiva, debe realizarse en el momento del diagnóstico para evitar su expansión. En concordancia con la teoría de Moss, se observa aumento del espacio entre los bordes de la fractura, aún con la disminución de la presión intracraneal al derivar el líquido cefalorraquídeo. En este caso, la intervención correctiva de la fractura, determinó una evolución satisfactoria, en ausencia de hidrocefalia o crisis convulsiva, posiblemente debida a la presión disminuida del quiste porencefálico sobre el parénquima subyacente.

We describe the case of a female patient of five years old, with a history of a skull fracture associated with direct trauma on his second day of life, then porencephalic left frontoparietal arachnoid cysts was diagnosed at 3 months of age. She was iniatially treated by plaing cystoeritoneal derivative system and follow-up imaging studies was performed. At 5 years of age is brought to clinic in our departmen of neurosurgery, for presenting calvarial deformity in the left frontoparietal area. The follow-p scan of the head showed a cease progression relative dimensions porencephalic cyst an increased space between the bone edges of the fracture. The patient was transferred to operating table, on which a hemicoronal left gliotico approach with resection of tissue was performed with dural graft placement craneoplasty bone tissue. Monitoring the month showed satisfactory corrective intervention and hassle evolution was performed with dural graft placement craneoplasty scalp and skull with autologous bone tissue. Corrective surgery of evolutionary fracture should be performed at the time of diagnosis to prevent its expansion. In agreement with the Moss theory, increasing the space between the edges of the fracture even with decreasing intracranial pressure deriving the cerebrospinal fluid was observed. In this case corrective intervention of the fracture produced a satisfactory outcome in the absence of hydrocephalus or seizure, possibly due to decreased pressure of porencephalic cyst on the underlying parenchyma.

A Case of Fetal Intracranial Hemorrhage Diagnosed by Antenatal Ultrasonogram / 대한산부인과학회잡지

Fetal intracranial hemorrhage is quite rare. It refers to the bleeding that occurs antenatally from a blood vessel into ventricles, subdural space, or parenchyme of the brain. Factors that may place the fetus at risk for intracranial hemorrhage include maternal drug exposure history, various maternal and fetal conditions. The majority of reported antenatally detected cases of intracranial hemorrhage have occurred during the third trimester. Residual changes may include development of a porencephalic cyst or ventricular enlargement. Intracranial hemorrhage has a broad spectrum of manifestations with diverse prognosis. We report a case of fetal intracranial hemorrhage that was diagnosed antenatally in the third trimester with a brief review of literatures.

Porencephalic Cyst Associated with Shunt Malfunction

When hydrocephalus develops, excessive cerebrospinal fluid accumulation usually occurs within the ventricular system, leading to a ventriculomegaly caused by increased intracranial pressure. Shunt malfunction, a common complication after a shunt operation, usually occurs, together with recurring ventricular dilatation. The authors report a case of shunt malfunction which manifested as a porencephalic cyst along the proximal catheter. The cyst subsided after the replacement of the shunt system, and this led to the patient's clinical improvement. We postulate that although the region around a catheter is an unusual site for cerebrospinal fluid collection, this finding should be considered as a shunt obstruction. The possible mechanism of reversible porencephaly is discussed and the literature is briefly reviewed.

Two cases of porencephalic cyst

No abstract available.