Brachmann-Cornelia de Lange syndrome with a papilloma of the choroid plexus: analyses of molecular genetic characteristics of the patient and the tumor. A single-case study.

PURPOSE: A 10-month-old girl with a Brachmann-Cornelia de Lange syndrome and a choroid plexus papilloma of the brain was studied at the Hospital Infantil de México Federico Gómez (HIMFG) in Mexico City. METHODS AND RESULTS: Presumptive papilloma of the third ventricle was evidenced on CT and MR images and removed. Pathological analysis confirmed its origin. A posterior radiosurgery was required due to a tumor relapse. Karyotypes (GTG bands) of the patient and her parents undertaken at HIMFG were normal. Array comparative genomic hybridization (array CGH) analyses of blood DNA of the patient and her parents carried out at BlueGnome's Laboratory in Cambridge, UK, set in evidence amplification of genes SPNS2, GGT6, SMTNL2, PELP1, MYBBP1A, and ALOX15 in chromosome 17p of the patient. Since MYBBP1A is a proto-oncogene and ALOX15 participates in the development of cancer and metastases of tumors, further fluorescent in situ hybridization (FISH) analyses of these two genes were implemented at HIMFG. Amplification of the two genes was found in the tumor of the case under study but not in an unrelated papilloma of the choroid plexus. DISCUSSION: Further analyses of the association of choroid plexus papillomas with disorders of psycho-neural development and its relationship to molecular genetic modifications at chromosome 17p are now under way at HIMFG.

Surgery of tumors of the cerebellum and prefrontal cortex, and sensory memory and motor planning disturbances in children.

OBJECT: This study addressed the integration of sensory short-term memory (SSTM) and motor planning (MP) in the lateral cerebellar region, where the dentate nucleus is localized, and in the prefrontal cortex (PF). METHODS: Boucher and Lewis's test of SSTM and MP was administered pre- and postsurgically to 8 patients of either sex, between 5 and 19 years of age, with tumors of the cerebellum, PF (area 9 medial) or the parieto-occipital region, and on one occasion to 8 corresponding controls. RESULTS: Whereas lesions of the midline portions of the cerebellum and of the parietal-occipital region did not appear to cause any cognitive defects, patients with lesions affecting either the lateral cerebellar region or PF exhibited statistically significant deficits of SSTM and MP. CONCLUSIONS: The lateral cerebellum seems to act in concert with PF to integrate different cognitive activities related to holding objects in SSTM and planning motor strategies in reference to them.

Tumores intracraneanos del niño / Pediatric intracranial tumors

Introducción. Los tumores intracraneanos (TIC) pediátricos son las neoplasias sólidas más frecuentes en niños. Se presenta la experiencia del Hospital Infantil de México Federico Gómez (HIMFG) de los últimos 36 años. Material y métodos. Se utilizaron los siguientes archivos del HIMFG: Clínico, de los Departamentos de Neurocirugía y de Patología. Los resultados se compararon con los datos del Hospital for Sick Children de Toronto y del Instituto Nacional de Pediatría de México, D. F. Resultados. En el HIMFG, 55% de los pacientes eran del sexo masculino. Predominaron desde lactantes mayores hasta escolares, con más de 50%. Los tumores fueron: 397 supratentoriales y 413 infratentoriales. Los más frecuentes fueron: astrocitomas (32%), meduloblastomas (19%), craneofaringiomas (11%) y ependimomas (10%); en el quinto lugar quedaron los germinomas (4%). Los gliomas mixtos, los meningiomas, los tumores neuroectodérmicos primitivos y los ependimoblastomas representaron de 1 a 3%. Conclusiones. En el HIMFG, los 4 tipos más frecuentes de tumor fueron: astrocitomas, meduloblastomas, craneofaringiomas y ependimomas. El trabajo de campo del HIMFG ha tenido un desarrollo exponencial desde la mitad de los años setenta. Actualmente, el volumen de pacientes manejado por el HIMFG es semejante a, o rebasa discretamente, al de otras instituciones.

Introduction. Pediatric intracranial tumors (PIC) make up the most frequent solid neoplastic pathology in children. We present an analysis of the experience of Hospital Infantil de Mexico Federico Gomez (HIMFG), in Mexico City, over the course of 36 years in this regard. Material and methods. Cases from the archives of the Department of Clinical Records, Department of Neurosurgery and Department of Pathology at HIMFG were used for this analysis. Results were compared to data published by the Hospital for Sick Children of Toronto (HSCT) and by Instituto Nacional de Pediatria (INP) in Mexico City. Results. Of 810 cases reviewed at HIMFG, 55% belonged to the male gender. By age, older-infant and grade-school-children cases predominated (> 50%). Of those, 397 cases were supratentorial and 413 infratentorial. Most frequent tumors were: astrocytomas (23%), medulloblastomas , craniopharyngiomas (11%) and ependymomas (10%). Fifth place was occupied by germinomas (4%). Mixed gliomas, meningiomas, primitive neuroectodermal tumors and ependymoblastomas were the last (1 to 3%). Conclusions. At HIMFG, the most frequent tumour types were: astrocytomas, medulloblastomas, craniopharyngiomas and ependymomas. Since the 70s, on the number of patients presenting with intracranial tumors at HIMFG has grown exponentially, and the amount carried out till now at this hospital parallels, or slightly exceeds, that carried out at similar institutions in Mexico and abroad.