[Presentation of two cases of Crouzon syndrome: allelic cranio-stenotic conditions of FGFR genes]. / Síndrome de Crouzon: a propósito de 2 casos. Entidades craneoestenóticas alélicas de los genes FGFR.

INTRODUCTION: Craniosynostosis is an abnormal and premature fusion of any cranial suture. Twenty per cent of them involve any specific syndrome with Mendelian transmission; the other 80% are "non syndromic", although but 10-14% of them are genetically transmitted. Using the experience of two patients with Crouzon syndrome, a clinical and genetic review is performed. PATIENTS AND METHODS: Patient 1: girl of 35 days of age with progressive macrocephaly, protrusion of fontanel, ocular proptosis, hypertelorism and divergent strabismus. Cranial RX with sagittal synostosis. Surgical operation was performed with 3 months and 8 months of age due to development of pansynostosis. Patient 2: boy of 3 years 8 months of age with headaches of migrainous type of one year onset. He had acanthosis nigricans. Cranial RX and cerebral CT with evident digital markings and fundus of eye with undefined papillary limits, but 18 month later oedematous papilla were evident and pansynostosis was detected, so surgery was performed. RESULTS: We present a patient with classical Crouzon syndrome (patient 1) and another with acanthosis nigricans (patient 2), both diagnosed by the description of characteristic clinical features. CONCLUSIONS: Ten craniosynostotic clinical forms are currently known as allelic variations of the FGFR genes, and as such have reviewed them. As in our two cases, in syndromic types is very important the accurate study of the phenotype to orientate the diagnosis, although the molecular study will confirm it in many patients and genetic counselling offered.

[Meduloblastoma: infrequent onset in local recurrence]. / Meduloblastoma: una presentación infrecuente en la recurrencia local.

INTRODUCTION. Meduloblastoma is high potential to recur and spread tumour. CASE REPORT. One case posterior fosse meduloblas toma in six years old boy who received 3 surgeries, chemotherapy and radiotherapy, with local recurrence and extracranial extension into neck laterocervical musculature. CONCLUSION. Although meduloblastoma extraneural metastases are not isolated phenomenon, meduloblastoma extracraneal extension is uncommon phenomenon in local recurrence.

[Occult anterior sacral meningocele]. / Meningocele sacro anterior oculto.

BACKGROUND: The anterior sacral meningocele is a rare form of spinal dysraphism located in the presacral extraperitoneal space. It is generally asymptomatic and appears as a small pelvic mass. CASE DESCRIPTION: We present a case of a 10 year-old male that develops a bacteria meningitis because of a pararectal abscess that is connected with an anterior sacral meningocele. We successfully treated it using a posterior approach. CONCLUSION: The aim of the surgery is to repair the dural defect and to obliterate the communication between the thecal sac and the herniation defect. The posterior approach is the simplest and most effective surgical technique because the lower risk of neurological injury than the anterior approach.

[Intracranial tuberculoma: a case report and review of the literature]. / Tuberculoma intracraneal: caso clínico y revisión de la bibliografía.

INTRODUCTION: Cerebral tuberculoma constitutes an important neurotuberculosis clinical form with high morbimortality and important diagnoses difficulty. CASE REPORT: Only giant cerebral tuberculoma case in 3 years-old man who present dizziness and surgically treated by diagnostic suspicion of cerebral tumor. CONCLUSION: Cerebral tuberculomas can often be confused with cerebral tumors when they are not included in differential diagnosis.

[Sinus pericranii. A case report]. / Sinus pericranii. A propósito de un caso.

INTRODUCTION: Sinus pericranii is an unusual vascular anomaly characterised by communication between diploic and epicranial veins and a dural sinus. It is therefore an abnormal communication between the intracranial and extracranial circulatory systems. CASE REPORT: We report a case of sinus pericranii in an 8-month-old boy, with typical clinical and radiological manifestations. CONCLUSIONS: Sinus pericranii is a rare condition in paediatric pathology, which is generally asymptomatic and is usually found in the area of the anterior fontanelle. The fundamental diagnostic method is magnetic resonance imaging of the brain with and without contrast; surgery is the preferred treatment, although rare cases of spontaneous thrombosis have been reported.

[Optic pathway astrocytoma: an unusual cause of failure to thrive in infants]. / Astrocitoma de vías ópticas: una causa infrecuente de retraso ponderal en el lactante.

Failure to thrive is a frequent cause of consultation in pediatric services. The main objective in these patients is the early detection of an organic cause, if present. We report a case of low-grade astrocytoma of the optic pathway in a 2-month-old child whose main symptoms at diagnosis were failure to thrive and anorexia. Unfortunately, despite therapeutic efforts, the tumor showed local and metastatic progression refractory to chemotherapy. The patient died 3 months after diagnosis. We conclude that diencephalic tumors must be considered in the differential diagnosis of failure to thrive during the first year of life, especially when, after initial investigations, a cause is not found.

[Mediastinal lipoblastoma with intramedullary extension]. / Lipoblastoma mediastínico con extensión intramedular.

INTRODUCTION: Lipoblastomatous lesions are mesenchymal tumors of fetal-embryonal fat that are classified into two types: a superficial, well-defined mass (lipoblastoma) or an infiltrative lesion (lipoblastomatosis). CASE REPORT: An unique case of mediastinal lipoblastoma in a 27-month-old boy with spinal epidural extension from C7-D9, clinically manifested as a progressive painful. CONCLUSION: The treatment of choice is the complete excision, with high risk of recurrence, suggesting a periodical clinical evaluation with neuroimaging studies.

[Complications of cerebrospinal fluid shunt]. / Complicaciones de las válvulas de derivación de líquido cefalorraquídeo.

OBJECTIVE: The objective of this study was to know the incidence, mode of presentation, clinical and microbiological aspects, as well as the management of ventriculo-peritoneal shunt malfunction. PATIENTS AND METHODS: A retrospective study was carried out where thirty-seven children with malfunctioning shunts were studied. The mechanical causes of shunt malfunction included disconnection, fracture and obstruction, while infection was considered as either a clinical or analytical change (blood and/or CSF). RESULTS: The mean age of the patients was 5.5 years. The most common indication for the insertion of the ventriculoperitoneal shunt was congenital hydrocephalus. The average stay in the ICU was 8.2 days. Mechanical dysfunction was detected in 25 patients (68%) and infectious etiology in 12. The most common clinical manifestations were vomiting, fever and headache. CSF biochemical alteration was found in 8 of the infected group. Staphylococcus was isolated in six of the 8 cases. The ventriculoperitoneal shunt was changed during the first 24 hours in 17 of 25 patients (68%) with mechanical malfunction, while 11 cases with an infective cause (92%) were managed with an external shunt. The interval between the insertion of the ventriculoperitoneal shunt and the malfunction was over 6 months in 20 cases (54%). CONCLUSIONS: Ventriculoperitoneal shunts are the main method for treating hydrocephaly, although they are not without complications which may require surgical procedures. Appropriate surgical technique, asepsis, as well as prophylactic antibiotics are essential to decrease the incidence of complications.

[Epidural hematoma in children. Prognostic factors. Analysis of 70 cases]. / Hematoma epidural en niños. Factores pronósticos. Análisis de setenta casos.

OBJECTIVE: The aim of this study was to analyze the causes of epidural hematoma in order to know its incidence in craneoencephalic trauma and establish prognostic criteria. PATIENTS AND METHODS: A retrospective study of 70 children with the diagnosis of epidural hematoma between 1990 and 1995 were studied. Clinical, radiological, chronologic variables and evolution were analyzed. RESULTS: The diagnosis was made during the first 4 years in 63% of the cases. Neurologic impairment was present at admission in only 33% of the patients. Ages ranged between 7 days and 17 years (mean age: 8 years). Of these patients, 82% were admitted to the PICU, 53% were ventilated and 19% needed ICP monitorization. Radiological findings on the first CT were skull fracture (68%) and temporoparietal epidural hematoma (66%), right-sided (63%). Other kinds of lesions were also recorded in the first and subsequent CTs. Three patients died, 63% recovered fully, 10% had serious sequelae and 23% had some degree of neurodisability. CONCLUSIONS: The following data correlated with death or neurological impairment: Multiple cerebral contusion (p = 0.002), brain edema (p = 0.05), GCS less than 8 on admission (p = 0.002), and shock (p = 0.003). On the other hand, neither surgical drainage volume, age, location of the hematoma, nor ICP values correlated with a poor prognosis.

Traumatic extradural hematomas of the posterior fossa in children.

The most favorable type of traumatic intracranial bleeding in childhood is the extradural hemorrage (EDH). The posterior fossa location is less frequent than the supratentorial site. In the period from January 1989 to January 1994 we treated 2,372 patients with craniocerebral trauma; 31 had extradural hematomas (1.3%); 3 of them were located in the posterior fossa (9.7%): 1 boy and 2 girls aged from 6 to 16 years. The traumatic mechanism was an occipital fall in all cases. Diagnosis was made by computed tomography scan (CT). Two of them had a rapidly deteriorating course. The three patients were operated on without mortality and there was no morbidity. The role of CT in the early detection of lesions and prompt surgical evacuation may reduce the mortality and morbidity from this lesion. The interaction between these factors is discussed.

[Collapsed ventricle syndrome (slit-ventricle). Apropos of 8 cases]. / Síndrome de ventrículos colapsados ("slit-ventricle"). A propósito de ocho observaciones.

Slit-ventricle syndrome (SVS) may appear in shunted hydrocephalic children as a complication by chronic overdrainage. SVS is defined by clinical features (headache, nausea and/or vomiting, disturbance of consciousness), slow valve refilling and slit or slit-like ventricles at computerized tomography. Authors report eight cases of SVS and review physiopathological, clinical and therapeutic aspects of this syndrome. It is concluded that SVS at present time may be considered an iatrogenic complication and the placement of high-pressure valves as a prophylactic measure can be a useful system to avoid SVS. It seems necessary to make more studies in order to evaluate efficacy of antisiphon devices.

[Ventriculo-peritoneal shunt, hypovolemic shock and cerebrospinal fluid ascites]. / Derivación ventrículo-peritoneal, "shock" hipovolémico y ascitis por líquido cefalorraquídeo.

A case of communicating hydrocephalus with excessive amount of choroid plexus confirmed by computerized tomography scan in a five-year-old girl is reported. The child exhibited hypovolemic shock and cerebrospinal fluid (CSF) ascites after ventriculo-peritoneal shunting and relief after ventriculoatrial shunting. Some features suggest overproduction of CSF, with the so-called "third-space" fluid losses, due to sequestration of fluids in the body (peritoneum) that might explain shock. They review 22 cases of CSF ascites reported in the literature.

[Intracranial arachnoid cysts in children. Review of 34 cases]. / Quistes aracnoideos intracraneales en el niño. Revisión de 34 observaciones.

Clinical, radiological, and therapeutical aspects of 34 cases of childhood intracranial arachnoid cysts are reviewed. Two thirds (23) were located supratentorially, the remaining 11 had an infratentorial localization. Of the first group 15 were situated at the sylvian region, 6 were hemispherical and 2 suprasellar. Clinical manifestations were present before 6 months of age in 68% of all the cases. Macrocephaly and focal seizures were the most common clinical findings. Skull X-Ray examination was helpful only when cysts were located at sylvian region. CT Brain Scan was positive in all cases (32) in which it was performed, dynamic studies with Metrizamide were necessary in 6 cases and arteriography in 4 cases to definitively prove the diagnosis. Surgical approach (removal of cysts or cyst/ventriculo-peritoneal shunting) was undertaken in 20 cases, with unequal results. Authors comment on possible etiopathogenic factors, indications for use of dynamic studies with Metrizamide and rational guide for surgical therapy on these patients.