Congenital fibrous hamartoma of the knee

A full-term male infant presented at birth with a hard swelling of the left knee. The lemon-sized lesion was fixed to the underlying knee muscles, while the overlying skin was stretched and shiny; there was no bruit. Radiography, sonography and MRI suggested a soft-tissue tumour. After surgical excision, histology showed the presence of fibrous and mesenchymal tissue, with mature adipose tissue. Fibrous hamartoma of infancy was diagnosed. Among soft-tissue tumours, fibrous hamartoma of infancy is a rare and benign lesion, occurring in the first 2 years of life. The tumour mainly affects the trunk, axilla, and upper extremities. This infant had unique involvement of the knee. The treatment of choice is local excision.     

A case of recurrent and synchronous fibrous hamartoma of infancy

We retrospectively reviewed the chart of a patient with recurrent fibrous hamartoma of infancy (FHI). This lesion presented as a gradually enlarging mass on the childs buttock. The child, a 6-month-old male, was followed up, and at 19 months of age the mass was excised. Eighteen months after the initial operation, a local recurrence was noticed. Forty-one months after the initial operation, reexcision was performed. Both masses demonstrated the characteristic features of FHI, which should be considered in the differential diagnosis of subcutaneous mass in young children.     

Fibrous hamartoma of infancy in the scrotum

Fibrous hamartomas of infancy and childhood are rare benign tumors. The clinical and morphological features of these lesions can be different according to the age at onset. Although the most common localizations are the shoulders, axillas, and upper arms, these lesions may develop in unusual sites such as the scrotum. The authors report a 13-month-old child with a fibrous hamartoma in the scrotum, which was excised. At 1-year follow-up there was no sign of local recurrence or distant disease. The clinical and histological features of the disease are described in order to facilitate correct diagnosis and avoid inadequate therapy. Offprint requests to: F. Ferro     

The pathogenesis and imaging of the tuberous sclerosis complex

Tuberous sclerosis complex (TSC) is an autosomal-dominant disorder characterized by the formation of hamartomatous lesions in multiple organ systems. It is the second most common neurocutaneous syndrome after neurofibromatosis type 1 and has been recognized since the late 1800s. Although the disease has complete penetrance, there is also high phenotypic variability: some patients have obvious signs at birth, while others remain undiagnosed for many years. In addition to skin lesions, TSC patients develop numerous brain lesions, angiomyolipoma (AMLs), lymphangiomyomatosis (LAM) in the lungs, cardiac rhabdomyomas, skeletal lesions, and vascular anomalies, all of which are well seen with medical imaging. Our knowledge of TSC genetics and pathophysiology has expanded dramatically in recent years: two genetic loci were discovered in the 1990s and recent elucidation of TSC's interaction with the mTOR pathway has changed how we manage the disease. Meanwhile, medical imaging is playing an increasingly important role in the diagnosis, management, and treatment of TSC. We provide an update on the genetics and pathophysiology of TSC, review its clinical manifestations, and explore the breadth of imaging features in each organ system, from prenatal detection of cardiac rhabdomyomas to monitoring rapamycin therapy to treatment of AMLs by interventional radiology.     

Cardiac tumours in tuberous sclerosis: Their incidence and course

Cardiac tumours have been frequently reported in patients with tuberous sclerosis but their incidence at different ages has been evaluated in only a few studies. We performed echocardiography in 47 children with tuberous sclerosis and found tumours in 22 (47%). In none, except one newborn, did we observe any clinical symptoms of heart failure. Tumours were more frequent in children below 2 years of age (91%) than in older children. As other signs of tuberous sclerosis are often absent in infants, echocardiography may be regarded as the most useful diagnostic test at this age. Follow up studies were done in 12 children and tumour regression occurred in 6 patients.     

Magnetization transfer ratio measurements of the brain in children with tuberous sclerosis complex

Background: Magnetization transfer contrast and magnetization transfer ratio (MTR) in brain are mainly related to the presence of myelin. Neuropathological studies of brain lesions in tuberous sclerosis complex (TSC) have demonstrated disordered myelin sheaths. Objective: To evaluate the MTR of the brain in children with TSC and to compare with that in controls. Materials and methods: Four patients (aged 0.41–8.4 years, mean 2.5 years) with TSC and four age- and sex-matched controls were evaluated with classic MR sequences and with a three-dimensional gradient-echo sequence without and with magnetization transfer pre-pulse. The MTR was calculated as: (SI₀–SI_m)/SI₀×100%, where SI_m refers to signal intensity from an image acquired with a magnetization transfer pre-pulse and SI₀ the signal intensity from the image acquired without a magnetization transfer pre-pulse. Results: The MTR values of cortical tubers (44.1±4.1), of subependymal nodules (51.6±4.8) and of white matter lesions (52.4±1.8) were significantly lower than those of cortex (58.7±3.53), of basal ganglia (caudate nucleus 58.2±2.8, putamen 59.6±2.5, thalamus 61.3±2.4) and of white matter (64.2±2.5) in controls (P<0.001). The MTR of normal-appearing white matter (61.2±3.0) in patients was lower than that of white matter in controls (P<0.01). The MTR of cortex and basal ganglia in patients was not significantly different from that in controls. Conclusions: MTR measurements not only provide semiquantitative information for TSC lesions but also reveal more extensive disease.An erratum to this article is available at     

Cyst-like cortical tubers in patients with tuberous sclerosis complex: MR imaging with the FLAIR sequence

Background: Tuberous sclerosis complex (TSC) is an inherited disorder characterized by the presence of cortical tubers, the majority of which are solid and show high signal on FLAIR images. Low-signal tubers are less frequent. Objective: To evaluate cystic cortical tubers in patients with TSC on the basis of their appearance on FLAIR images. Materials and methods: MR examinations of 73 patients were retrospectively reviewed and 17 children (aged 25 days to 12.3 years) with a typical cyst-like tubers were selected for further analysis. The age of the patients, the number of lesions, and the shape and MR intensity were analyzed. Results: Cyst-like cortical tubers were detected in 82% of children below 7 years of age and in 18% of those older then 7 years (P=0.00086). Most of the cystic lesions were of the shrunken type (72%), the expansile type being less frequently seen (28%). Conclusions: FLAIR images confirm the cystic character of some of the cortical tubers in TSC patients although the pathogenesis of cystic change is still unknown.     

Independent temporal lobe epilepsy in patients with tuberous sclerosis complex

Tuberous sclerosis complex(TSC)is a rare disease that involves multiple organs,including the brain;approximately 80%-90%of TSC patients exhibit TSC-associated epilepsy.Independent temporal lobe epilepsy(TLE),TSC-unrelated epilepsy,is particularly rare in patients with TSC.Here,we describe three patients with TSC with independent TLEs that were confirmed by stereo-electroencephalography(EEG),postoperative pathological findings,and seizure outcome at follow-up.The patients were retrospectively enrolled at two centers;their ictal epileptiform discharge onsets were determined using electrode contacts in the hippocampus during stereo-EEG.The three patients underwent anterior temporal lobectomies and remained seizure-free at 1-5 years after surgery.Postoperative pathological examinations confirmed hippocampal sclerosis in all three patients.Furthermore,postoperative intelligence quotient improvement was evident in one patient,while the quality of life was improved in two patients at 12 months after surgery.     

Comparative analysis of MR sequences to detect structural brain lesions in tuberous sclerosis

Background: Tuberous sclerosis (TS) is a neurocutaneous genetically inherited disease with variable penetrance characterized by dysplasias and hamartomas affecting multiple organs. MR is the imaging method of choice to demonstrate structural brain lesions in TS. Objective: To compare MR sequences and determine which is most useful for the demonstration of each type of brain lesion in TS patients. Materials and methods: We reviewed MR scans of 18 TS patients for the presence of cortical tubers, white matter lesions (radial bands), subependymal nodules, and subependymal giant cell astrocytoma (SGCA) on the following sequences: (1) T1-weighted spin-echo (T1 SE) images before and after gadolinium (Gd) injection; (2) nonenhanced T1 SE sequence with an additional magnetization transfer contrast medium pulse on resonance (T1 SE/MTC); and (3) fluid-attenuated inversion recovery (FLAIR) sequence. Results: Cortical tubers were found in significantly (P<0.05) larger numbers and more conspicuously in FLAIR and T1 SE/MTC sequences. The T1 SE/MTC sequence was far superior to other methods in detecting white matter lesions (P<0.01). There was no significant difference between the T1 SE/MTC and T1 SE (before and after Gd injection) sequences in the detection of subependymal nodules; FLAIR sequence showed less sensitivity than the others in identifying the nodules. T1 SE sequences after Gd injection demonstrated better the limits of the SGCA. Conclusion: We demonstrated the importance of appropriate MRI sequences for diagnosis of the most frequent brain lesions in TS. Our study reinforces the fact that each sequence has a particular application according to the type of TS lesion. Gd injection might be useful in detecting SGCA; however, the parameters of size and location are also important for a presumptive diagnosis of these tumors.     

小儿结节性硬化症合并癫癎的随访研究

目的：调查结节性硬化症（TSC）合并癫癎的治疗转归及癫癎反复发作的高危因素。方法：回顾性分析我院66例TSC患儿的资料。结果：66例TSC患儿中,随访47例,随访时间为7个月至9.3年,平均4.5±2.6年。患儿现在年龄7.7±4.1岁,癫癎发作类型：40%有婴儿痉挛症,51%有强直性发作,32%有部分性发作,强直-阵挛性发作占6%,多灶性发作、失张力发作、不典型失神发作、抑制性运动发作各占2%。目前使用抗癫癎药1.9±0.86种,中位数1种。26%仍然癫癎发作,70%无发作,4%死亡。手术治疗3例,均在继续用药,随访1.5年以上,无发作。应用非条件logistic回归方法分析,发现起病年龄（RR=1.8, 95% CI 1.0～3.2, P=0.050）、抗癫癎药的种类(RR=4.8, 95% CI 1.2～18.6, P=0.024)、强直发作(RR=0.003, 95% CI 0.0～0.2, P=0.04)、性别(RR=0.016, 95% CI 0.0～0.5, P=0.017）是癫癎反复发作的高危因素。30例7岁以上儿童57%例可以上普通学校, 10%上特殊学校; 33%因为智力、言语发育落后不能上学。结论：对TSC合并癫癎进行抗癫癎治疗可以达到大部分无发作。癫癎发作起病年龄早、强直发作、需要多种抗癫癎药是癫癎反复发作的高危因素。［中国当代儿科杂志,2009,11（12）：996-998］     

Mesenchymal hamartoma of the chest wall in infancy: 7-year follow-up

A case of mesenchymal hamartoma of the chest wall in infancy is reported. The presenting symptom was a bulging mass arising from the chest wall. Computed tomography showed the lesion to be multifocal. A large extrathoracic mass was removed and the defect in the chest wall was repaired with a Marlex mesh. Two smaller intrathoracic lesions were observed conservatively and have not enlarged during the past 7 years. Correspondence to: Y. Ishiguro     

Mesenchymal hamartoma of the chest wall

Mesenchymal hamartoma of the chest wall is an unusual lesion remarkable for its occurrence in early infancy and alarming clinical presentation, which often suggests malignancy. Despite its aggressive appearance and propensity to attain massive size, the lesion behaves biologically in a benign fashion, and may be treated conservatively, provided that there is no respiratory compromise secondary to mass effect. The case of an incompletely resected mesenchymal hamartoma that has behaved in a benign fashion after more than 4 years of follow-up is discussed here. We present this case to provide insight and raise clinicians’ awareness of the behavior of an extremely rare tumor.     

Diffusion tensor imaging in children and adolescents with tuberous sclerosis

Background: Tuberous sclerosis (TS) is characterised by benign hamartomatous lesions in many organs. Diffusion tensor imaging (DTI) can detect microstructural changes in pathological processes. Objective: To determine apparent diffusion coefficient (ADC) and fractional anisotropy (FA) maps in children with TS and to investigate the diffusion properties in cortical tubers, white-matter lesions, perilesional white matter, and contralateral normal-appearing white matter, and to compare the results with ADC and FA maps of normal age- and sex-matched volunteers. Materials and methods: Seven children and adolescents (age range 2–20 years) suffering from TS were included. MRI was performed on a 1.5-T scanner using a transmit/receive coil with T1-W and T2-W spin-echo and FLAIR sequences. DT images were acquired by using a single-shot echo-planar pulse sequence. Diffusion gradients were applied in six different directions with a b value of 1,000 s/mm². Results: ADC was higher in cortical tubers than in the corresponding cortical location of controls. ADC values were higher and FA values were lower in white-matter lesions and perilesional white matter than in both the contralateral normal-appearing white matter of patients and in controls. There were no significant differences for both ADC and FA values in the normal-appearing white matter of patients with TS compared to controls. Conclusions: DTI provides important information about cortical tubers, white-matter abnormalities, and perilesional white matter in patients with TS.     

结节性硬化症致痫灶定位技术的研究进展

癫痫是结节性硬化症患者的主要临床特征之一,其大部分是药物难治性的,手术为其治疗提供了有效途径。而准确的术前评估对术后疗效至关重要,术前评估主要是确定手术需要切除的致痫灶范围及需要保留的脑功能区范围。因为癫痫产生机制及脑组织网络的复杂性,目前还没有单一的、特异性的检查方法可以对致痫区进行精准的鉴别和定位,所以需要使用多种...     

Cardiac tumour in a neonate with tuberous sclerosis: echocardiographic demonstration and magnetic resonance imaging

In a neonate with tuberous sclerosis, cardiac tumours were diagnosed by two-dimensional echocardiography and evaluated by electrocardiogram-gated magnetic resonance imaging (MRI). The tumour size, shape and mobility in the ventricular cavities were more precisely determined by two-dimensional echocardiography than electrocardiogramgated MRI, while the extent of tumour mass at the apex was more clearly delineated by MRI. As two-dimensional echocardiography provides real-time imaging of cardiac anatomy without sedation, it is useful for initial evaluation of cardiac masses in neonates with genetic predisposition to tuberous sclerosis.Abbreviation MRI magnetic resonance imaging     

Congenital fibromatosis of the ileum

Congenital fibrous hamartoma is one of the rare congenital lesions occuring in the abdomen. We report a case of congenital fibromatosis of the small intestine in a boy who presented with a huge intra-abdominal mass. Problems associated with diagnosis are discussed with a review of the literature.     

Potential for treatment of severe autism in tuberous sclerosis complex

The Food and Drug Administration (FDA) has approved two mechanism-based treatments for tuberous sclerosis complex (TSC)-everolimus and vigabatrin. However, these treatments have not been systematically studied in individuals with TSC and severe autism. The aim of this review is to identify the clinical features of severe autism in TSC, applicable preclinical models, and potential barriers that may warrant strategic planning in the design phase of clinical trial development. A comprehensive search strategy was formed and searched across PubMed, Embase and SCOPUS from their inception to 2/21/12, 3/16/12, and 3/12/12 respectively. After the final search date, relevant, updated articles were selected from PubMed abstracts generated electronically and emailed daily from PubMed. The references of selected articles were searched, and relevant articles were selected. A search of clinicaltrials.gov was completed using the search term “TSC” and “tuberous sclerosis complex”. Autism has been reported in as many as 60% of individuals with TSC; however, review of the literature revealed few data to support clear classification of the severity of autism in TSC. Variability was identified in the diagnostic approach, assessment of cognition, and functional outcome among the reviewed studies and case reports. Objective outcome measures were not used in many early studies; however, diffusion tensor imaging of white matter, neurophysiologic variability in infantile spasms, and cortical tuber subcategories were examined in recent studies and may be useful for objective classification of TSC in future studies. Mechanism-based treatments for TSC are currently available. However, this literature review revealed two potential barriers to successful design and implementation of clinical trials in individuals with severe autism-an unclear definition of the population and lack of validated outcome measures. Recent studies of objective outcome measures in TSC and further study of applicable preclinical models present an opportunity to overcome these barriers.