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1.
World Neurosurg ; 129: e104-e113, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31100525

RESUMO

BACKGROUND: In pediatric cases, the use of autologous bone tissue to repair cranial bone defects is often impossible. The synthetic hydroxyapatite bone substitute (CustomBone) can be a good alternative, especially in case of a large bone defect that has to be repaired. METHODS: This study focuses on a pediatric series of 30 children who underwent cranioplasty with a CustomBone implant. Patient age ranged from 8 months to 16 years, with a mean age of 7 years and 8 months. The most common indication for cranioplasty was posttraumatic decompressive craniectomy. RESULTS: No complications were reported. Cosmetic results were satisfactory in every patient. Only 1 implant had to be changed after severe head trauma because of an epileptic seizure in the early postoperative period. In all patients, cerebral blood flow improved during the postoperative phase. Complete implant osteointegration is a long process because mean time to begin was 13 months (range, 3-22 months). Mean patient follow-up was 6.7 years. Successful prosthesis integration depends on the accuracy of the preoperative model. The minimum thickness of the implant (4 mm) represents a challenge in very young children, but we used it with success in this series. Moreover, high costs represent another limitation for its use. CONCLUSIONS: The CustomBone implant meets all necessary conditions for good clinical outcome: excellent protective properties, restoration of normal intracranial physiology, satisfactory cosmetic results, good integration in the autologous bone, and good resistance in case of trauma.

2.
Genet Med ; 21(9): 2036-2042, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-30739909

RESUMO

PURPOSE: To define the clinical characteristics of patients with variants in TCF20, we describe 27 patients, 26 of whom were identified via exome sequencing. We compare detailed clinical data with 17 previously reported patients. METHODS: Patients were ascertained through molecular testing laboratories performing exome sequencing (and other testing) with orthogonal confirmation; collaborating referring clinicians provided detailed clinical information. RESULTS: The cohort of 27 patients all had novel variants, and ranged in age from 2 to 68 years. All had developmental delay/intellectual disability. Autism spectrum disorders/autistic features were reported in 69%, attention disorders or hyperactivity in 67%, craniofacial features (no recognizable facial gestalt) in 67%, structural brain anomalies in 24%, and seizures in 12%. Additional features affecting various organ systems were described in 93%. In a majority of patients, we did not observe previously reported findings of postnatal overgrowth or craniosynostosis, in comparison with earlier reports. CONCLUSION: We provide valuable data regarding the prognosis and clinical manifestations of patients with variants in TCF20.

3.
World Neurosurg ; 2019 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-30639481

RESUMO

Misoprostol is often used for termination of pregnancy in France and others countries. However, some pregnancies are continued after taking the drug and congenital malformations are known to be the consequence of fetal exposure to misoprostol, among then hydrocephalus. The type of hydrocephalus in case of misoprostol exposure is not known. We report the first case in the literature of an obstructive hydrocephalus due to an aqueduct of Sylvius stenosis diagnosed during the pregnancy after misoprostol intake. The possible physiopathological implications of the drug are discussed regarding the genesis of this malformation.

5.
Am J Hum Genet ; 102(5): 995-1007, 2018 05 03.
Artigo em Inglês | MEDLINE | ID: mdl-29656858

RESUMO

Developmental and epileptic encephalopathies (DEEs) represent a large clinical and genetic heterogeneous group of neurodevelopmental diseases. The identification of pathogenic genetic variants in DEEs remains crucial for deciphering this complex group and for accurately caring for affected individuals (clinical diagnosis, genetic counseling, impacting medical, precision therapy, clinical trials, etc.). Whole-exome sequencing and intensive data sharing identified a recurrent de novo PACS2 heterozygous missense variant in 14 unrelated individuals. Their phenotype was characterized by epilepsy, global developmental delay with or without autism, common cerebellar dysgenesis, and facial dysmorphism. Mixed focal and generalized epilepsy occurred in the neonatal period, controlled with difficulty in the first year, but many improved in early childhood. PACS2 is an important PACS1 paralog and encodes a multifunctional sorting protein involved in nuclear gene expression and pathway traffic regulation. Both proteins harbor cargo(furin)-binding regions (FBRs) that bind cargo proteins, sorting adaptors, and cellular kinase. Compared to the defined PACS1 recurrent variant series, individuals with PACS2 variant have more consistently neonatal/early-infantile-onset epilepsy that can be challenging to control. Cerebellar abnormalities may be similar but PACS2 individuals exhibit a pattern of clear dysgenesis ranging from mild to severe. Functional studies demonstrated that the PACS2 recurrent variant reduces the ability of the predicted autoregulatory domain to modulate the interaction between the PACS2 FBR and client proteins, which may disturb cellular function. These findings support the causality of this recurrent de novo PACS2 heterozygous missense in DEEs with facial dysmorphim and cerebellar dysgenesis.

6.
World Neurosurg ; 110: e24-e31, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28987842

RESUMO

INTRODUCTION: Myelomeningocele (MMC) is a complex neural tube defect. Few studies report the results of modern postnatal management. The goal of this study was to report the long-term outcome of a multidisciplinary approach of patients with MMC. METHODS: Forty-six MMCs were included. Clinical status was evaluated prospectively. RESULTS: Mean follow-up was 8.1 years. The level of the malformation was sacral or lower lumbar (≤L4) in 27 cases, higher lumbar (between L1 and L3) in 5 cases, and thoracic in 14 cases. A Chiari II malformation was present at birth in 78.3% of the cases. Seventy-six percent of the patients were operated on within the first 24 hours of life. Sixty-one percent needed a cerebrospinal fluid diversion procedure. Seven patients underwent a second surgery for a retethering of the spine. Eighty percent presented with orthopedic problems. Sixty-five percent of our patients were able to walk. Only 13% of patients had a normal urinary elimination. Two groups of patients were identified: one group with a malformation at the level of L4 or below (group 1) and another group with a malformation strictly above L4 (group 2). Group 1 had significantly better outcome. CONCLUSIONS: This series proves that modern multidisciplinary postnatal management of MMC is effective. In the light of these results and of the results of prenatal management of MMC, prenatal surgery seems to be a highly valuable tool to improve the outcome of patients with high lesions (level ≥L3).


Assuntos
Meningomielocele/cirurgia , Adolescente , Malformação de Arnold-Chiari/complicações , Malformação de Arnold-Chiari/cirurgia , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Vértebras Lombares , Masculino , Meningomielocele/complicações , Meningomielocele/patologia , Microcirurgia , Procedimentos Neurocirúrgicos , Equipe de Assistência ao Paciente , Estudos Prospectivos , Vértebras Torácicas , Resultado do Tratamento
7.
World Neurosurg ; 108: 62-68, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28867320

RESUMO

OBJECTIVE: It was believed that Chiari type II malformation (CM-II) was always present in a myelomeningocele (MMC). In fact, it is associated in about 80% of cases. Improvement of the hindbrain herniation after prenatal closure of MMC has challenged the idea that this condition was irreversible. Only 2 studies report ascent of the cerebellar tonsil after postnatal closure. This work aimed to study a large group of patients with MMC who benefited from a postnatal repair to evaluate the rate of long-term total reversibility of CM-II. METHODS: Sixty-one patients were included. Mean time of follow-up was 8.1 years. The presence of CM-II after closure of the MMC was assessed on the most recent brain scan available for each patient. RESULTS: Forty-seven patients (77%) had a CM-II at birth (confirmed before the MMC repair). There was a significant correlation between the level of the malformation and the presence of a CM-II at birth (P = 0.003). After MMC closure, only 28 (45.9%) patients had a remaining CM-II. The reversibility rate was 40.4%. The reversibility was higher in lower level malformations (P = 0.004). The number of patients treated for hydrocephalus was significantly higher in the group of patients with remaining CM-II (P = 0.004). Only 11.5% of the children needed surgery for a symptomatic CM-II. CONCLUSIONS: MMC is not always associated with CM-II. The outcome of CM-II has improved. Postnatal closure can reverse the CM-II. This must be kept in mind when analyzing the result of prenatal series.


Assuntos
Malformação de Arnold-Chiari/complicações , Malformação de Arnold-Chiari/terapia , Meningomielocele/complicações , Meningomielocele/cirurgia , Seguimentos , Humanos , Hidrocefalia/complicações , Hidrocefalia/cirurgia , Estudos Retrospectivos , Siringomielia/complicações , Siringomielia/terapia
9.
Pediatr Neurol ; 49(6): 469-73, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24095647

RESUMO

BACKGROUND: Kawasaki disease is an acute and time-limited systemic vasculitis primarily affecting young children. PATIENT: We describe an 18-month-old girl with Kawasaki disease who developed cerebral infarction following complete occlusion of her right internal carotid artery. RESULTS: The occlusion occurred 10 days after the onset of fever, while she was on high-dose aspirin, and the day after she received intravenous immunoglobulin treatment. We present the first literature review on this very rare complication. CONCLUSION: Stroke is a rare neurological complication in Kawasaki disease. Optimal treatment should be begun as soon as possible after diagnosis. Intravenous immunoglobulins seem to reduce the cerebrovascular complications, but evaluation of hydration status is strongly recommended before performing such treatment.


Assuntos
Artéria Carótida Interna/patologia , Estenose das Carótidas/complicações , Síndrome de Linfonodos Mucocutâneos/complicações , Acidente Vascular Cerebral/etiologia , Infarto Cerebral/etiologia , Círculo Arterial do Cérebro/diagnóstico por imagem , Bases de Dados Bibliográficas/estatística & dados numéricos , Imagem de Difusão por Ressonância Magnética , Feminino , Humanos , Lactente , Angiografia por Ressonância Magnética , Radiografia
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