Disrupted cortico-ponto-cerebellar pathway in patients with hemimegalencephaly

Objective

Cerebellar dysmaturation and injury is associated with a wide range of neuromotor, neurocognitive and behavioral disorders as well as with preterm birth. We used diffusion tensor MR imaging to investigate a disruption in structural cortico-ponto-cerebellar (CPC) connectivity in children with infantile-onset severe epilepsy.

Infantile cortical hyperostosis of the mandible

Infantile cortical hypersotosis is a rare disease that affects children during the first six months of life, and is characterized by new periosteal bone formation. We report a case that affected the left mandible in a 3-month-old boy treated with indometacin.     

Cardiovascular drugs in the treatment of infantile hemangioma

Since the introduction of propranolol in the treatment of complicated infantile hemangiomas(IH) in 2008, other different beta-blockers, including timolol, acetabutolol, nadolol and atenolol, have been successfully used for the same purpose. Various hypotheses including vasoconstriction, inhibition of angiogenesis and the induction of apoptosis in proliferating endothelial cells have been advanced as the potential beta-blockerinduced effect on the accelerated IH involution, although the exact mechanism of action of beta-blockers remains unknown. This has generated an extraordinary interest in IH research and has led to the discovery of the role of the renin-angiotensin system(RAS) in the biology of IH, providing a plausible explanation for the beta-blocker induced effect on IH involution and the development of new potential indications for RAS drugs such as angiotensin-converting enzyme inhibitors and angiotensin-receptor blockers in the treatment of IH. This review is focused on the current use of cardiovascular drugs in the treatment of IH.     

Combined distal tibial rotational osteotomy and proximal growth plate modulation for treatment of infantile Blount’s disease

Infantile Blount’s disease is a condition that causes genu varum and internal tibial torsion. Treatment options include observation, orthotics, corrective osteotomy, elevation of the medial tibial plateau, resection of a physeal bar, lateral hemi-epiphysiodesis, and guided growth of the proximal tibial physis. Each of these treatment options has its disadvantages. Treating the coronal deformity alone (genu varum) will result in persistence of the internal tibial torsion (the axial deformity). In this report, we describe the combination of lateral growth modulation and distal tibial external rotation osteotomy to correct all the elements of the disease. This has not been described before for treatment of Blount’s disease. Both coronal and axial deformities were corrected in this patient. We propose this combination (rather than the lateral growth modulation alone) as the method of treatment for early stages of Blount’s disease as it corrects both elements of the disease and in the same time avoids the complications of proximal tibial osteotomy.     

Serial elongation-derotation-flexion casting for children with early-onset scoliosis

Various early-onset spinal deformities, particularly infantile and juvenile scoliosis (JS), still pose challenges to pediatric orthopedic surgeons. The ideal treatment of these deformities has yet to emerge, as both clinicians and surgeons still face multiple challenges including preservation of thoracic motion, spine and cage, and protection of cardiac and lung growth and function. Elongation-derotation-flexion (EDF) casting is a technique that uses a custom-made thoracolumbar cast based on a three-dimensional correction concept. EDF can control progression of the deformity and - in some cases-coax the initially-curved spine to grow straighter by acting simultaneously in the frontal, sagittal and coronal planes. Here we provide a comprehensive review of how infantile and JS can affect normal spine and thorax and how serial EDF casting can be used to manage these spinal deformities. A fresh review of the literature helps fully understand the principles of the serial EDF casting technique and the effectiveness of conservative treatment in patients with early-onset spinal deformities, particularly infantile and juvenile scolisois.     

脉冲染料激光治疗溃疡性血管瘤的临床研究

目的探讨脉冲染料激光(Pulsed dye laser,PDL)治疗溃疡性血管瘤的临床疗效和安全性。方法创面清洁的溃疡性血管瘤患儿,采用脉冲染料激光治疗(波长585 nm,脉宽0.45 ms,光斑5 mm,能量密度6.0～6.5 J/cm2),治疗间隔时间2～3周。治疗后随访观察溃疡完全再上皮化时间、疼痛缓解时间,以及溃疡创面的出血、感染等情况。结果本组共15例溃疡性血管瘤患儿,治疗前及治疗过程中均未接受其他治疗。14例(93.3%)仅接受1次PDL治疗,1～2周内溃疡创面完全再上皮化;1例(6.7%)接受2次PDL治疗后,溃疡创面再上皮化。溃疡的平均完全再上皮化时间为(1.68±0.23)周。所有患儿均在治疗后1～2 d内疼痛得到缓解。治疗后无一例出现溃疡创面扩大,未发生出血、感染等并发症。结论PDL能加快溃疡性血管瘤的创面愈合,缓解疼痛,治疗后无出血、感染及溃疡加重等并发症,可作为溃疡性血管瘤早期治疗的安全有效的方法。     

婴儿肝炎综合征血清纤维化标志物临床价值研究

目的 通过对婴儿肝炎综合征（IHS）患儿血清4项肝纤维指标及其与肝功能的相关性分析,初步探讨肝纤4项在IHS的临床应用价值及对疾病严重程度的评估。方法 回顾研究60例婴儿肝炎综合征患儿,根据超声诊断分为肝纤维化组（n=31）与非肝纤维化组（n=29）,比较两组肝纤4项指标水平,包括透明质酸（HA）,Ⅲ型前胶原（Pc-Ⅲ）,Ⅳ胶原（Ⅳ.C）,层粘连蛋白（LN）;并将4项肝纤维化指标与肝功能指标进行相关性分析。结果 肝纤维化组谷丙转氨酶（ALT）、总胆红素（TBIL）、直接胆红素（DBIL）、间接胆红素（IBIL）和胆汁酸（TBA）水平明显高于非肝纤维化组（PPr=0.25~0.49）,其中HA、Ⅳ.C与转氨酶及黄疸水平相关性最强,LN未发现有相关性指标。结论 血清4项肝纤维化标志物中HA、Ⅳ.C及Pc-Ⅲ联合肝功能及超声检查对IHS肝纤维化的早期诊断、评估病情有着重要临床价值。     

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients

Objective

To determine the frequency of mutations in CDKL5 in both male and female patients with infantile spasms or early onset epilepsy of unknown cause, and to consider whether the breadth of the reported phenotype would be extended by studying a different patient group.

Methods

Two groups of patients were investigated for CDKL5 mutations. Group 1 comprised 73 patients (57 female, 16 male) referred to Cardiff for CDKL5 analysis, of whom 49 (42 female, 7 male) had epileptic seizure onset in the first six months of life. Group 2 comprised 26 patients (11 female, 15 male) with infantile spasms previously recruited to a clinical trial, the UK Infantile Spasms Study. Where a likely pathogenic mutation was identified, further clinical data were reviewed.

Results

Seven likely pathogenic mutations were found among female patients from group 1 with epileptic seizure onset in the first six months of life, accounting for seven of the 42 in this group (17%). No mutations other than the already published mutation were found in female patients from group 2, or in any male patient from either study group. All patients with mutations had early signs of developmental delay and most had made little developmental progress. Further clinical information was available for six patients: autistic features and tactile hypersensitivity were common but only one had suggestive Rett‐like features. All had a severe epileptic seizure disorder, all but one of whom had myoclonic jerks. The EEG showed focal or generalised changes and in those with infantile spasms, hypsarrhythmia. Slow frequencies were seen frequently with a frontal or fronto‐temporal predominance and high amplitudes.

Conclusions

The spectrum of the epileptic seizure disorder, and associated EEG changes, in those with CDKL5 mutations is broader than previously reported. CDKL5 mutations are a significant cause of infantile spasms and early epileptic seizures in female patients, and of a later intractable seizure disorder, irrespective of whether they have suspected Rett syndrome. Analysis should be considered in these patients in the clinical setting.     

Cryptogenic Late‐onset Epileptic Spasms: An Overlooked Syndrome of Early Childhood?

PURPOSE: Few reports detailing late-onset epileptic spasms have been published. To determine whether this condition merely represents a late variant of classic West syndrome or exhibits specific features distinct from the latter and related to a later stage of brain maturation, we analyzed the whole population with this specific seizure type, excluding symptomatic cases to avoid the effect of brain lesion. METHODS: We reviewed the files of the 56 children evaluated for epileptic spasms in clusters having begun at age 12 months or later and analyzed clinical and video-EEG data of the 22 patients (4-17 years; mean, 8.5 years) without obvious cause. RESULTS: Interictal EEG did not show classic hypsarrhythmia. A temporal or temporofrontal slow wave and/or spike focus could be identified in all cases. Twelve children showed spasms with a tonic component. Ictal EEG revealed generalized high-voltage slow wave followed by diffuse voltage attenuation with superimposed fast activity. All children also exhibited other types of recorded seizures consisting of bursts of spike-waves with temporofrontal predominance, reminiscent of "atypical absences." In contrast with the occurrence of tonic components within a cluster of spasms, no tonic seizure stricto sensu was recorded or reported by the caregivers. In 10 children, treatment (two vigabatrin, seven hydrocortisone, one adrenocorticotropic hormone) achieved complete cessation of seizures and disappearance of focal EEG anomalies, but spasms persisted in 12 children. CONCLUSIONS: The cryptogenic group in our series without recognized cause and temporal or temporofrontal EEG anomalies seems to represent a type of epileptic encephalopathy intermediary between West and Lennox-Gastaut syndromes, in terms of seizure types and interictal EEG, and could correspond to dysfunction of the maturation process of the temporal lobe, possibly due to an undisclosed lesion.