Myopathy with Allgrove syndrome.
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Adrenal Insufficiency↗
Biomedical subjects
V Jay
Publications and source records attributed to V Jay.
Clinicopathological correlation of congenital corneal opacification using ultrasound biomicroscopy.
AIM: To investigate the correlation between clinical, high frequency ultrasound biomicroscopy (UBM) and, where possible, histological findings in cases of congenital corneal opacification presenting to the departments of ophthalmology, Great Ormond Street Hospital for Children, London, and the Hospital for Sick Children, Toronto, Canada. METHOD: 22 eyes of 13 children (age range 3-225 days) with congenitally opaque corneas were examined. UBM was performed using the ultrasound biomicroscope (Allergan-Humphrey). All eyes underwent penetrating keratoplasties (PKP) except five. The host corneas were all sent for histological examination. RESULTS: The final diagnosis in our series was Peters' anomaly in nine cases (70%), corneal dystrophy in two cases (15%), and sclerocornea in two cases (15%). The UBM findings changed the clinical diagnosis in five cases (38%). In these five cases histology was available in four and confirmed the UBM diagnosis in each case. In no case of the 13 where histology was available did it contradict the UBM findings. In two cases a hypoechoic region in the anterior stroma was seen on UBM which correlated histologically with absent Bowman's layer and oedema. In two cases UBM revealed aniridia and in one, congenital aphakia, which was not apparent clinically. CONCLUSION: UBM examination is not only very useful in evaluating the clinical diagnosis in congenital corneal opacification, it also acts as a preoperative guide in cases undergoing PKP by detecting keratolenticular and iridocorneal adhesions and other ocular abnormalities such as aniridia and congenital aphakia. In all cases where PKP was performed the UBM diagnosis was confirmed histologically. The clinical diagnosis was incorrect in five cases. This has important implications in studies of phenotype/genotype correlation of congenital corneal opacification.
Corneal Opacity↗
Malignant rolandic-sylvian epilepsy in children: diagnosis, treatment, and outcomes.
OBJECTIVE: To describe the diagnosis, treatment, and outcomes in children with malignant rolandic-sylvian epilepsy (MRSE), defined as a form of epilepsy characterized by sensorimotor seizures, medical refractoriness, normal MRI, frontocentrotemporal EEG spikes, rolandic-sylvian spike sources on magnetoencephalography (MEG), and cognitive problems. METHODS: A retrospective chart analysis of seven patients who had shown these characteristics and undergone extensive diagnostic testing, including MEG and intracranial video-EEG was performed. RESULTS: Interictal scalp EEG spikes were seen over the frontocentrotemporal regions bilaterally (6) and unilaterally (1). MEG showed spike sources in the perisylvian region in two patients (both bilateral) and in the perirolandic fissure in five (two bilateral). Three patients required bilateral subdural strips to lateralize seizures before electrocorticography. Final electrocorticograms showed an ictal onset zone around the rolandic (four cases) and rolandic-sylvian regions (three cases). Six patients showed neuropsychological deficits. After cortical excision and multiple subpial transection, three were seizure free and four had seizures rarely (30 months' mean follow-up). No child had a permanent deficit in sensorimotor or cognitive functions, although two showed exacerbation of preexisting attentional deficits. Tissue analysis showed definite evidence of neuronal migration disorders (3) and gliosis (2). CONCLUSIONS: MEG was helpful for localizing both malignant rolandic-sylvian neuronal activities and functional cortex. Successive neuropsychological assessments are necessary to detect cognitive deterioration and indicate remedial programming. If, after careful observation over at least 5 years, surgery is considered to control refractory seizures, intracranial video-EEG is needed to localize the epileptogenic zone.
Adolescent↗
Isolated angiitis of the CNS in children.
OBJECTIVE: To clarify the clinical features and pathologic manifestations of isolated angiitis of the CNS (IACNS) in children. METHODS: The authors report two new cases and summarize the literature of childhood IACNS confirmed by pathology. RESULTS: IACNS affecting small vessels (n = 5). Neurologic manifestations included headaches, focal seizures, and progressive, behavioral, or multifocal neurologic impairment. MRI showed multifocal, T2-hyperintense, cerebral lesions without mass effect or tumor-like lesions. CSF, erythrocyte sedimentation rate, and cerebral angiograms were often normal.CNS biopsy disclosed a nongranulomatous vasculitis. Children were treated with prednisone alone or combined with cyclophosphamide. One child died. Four children had a favorable outcome. IACNS affecting large and medium arteries (n =5). Three children presented with acute ischemic stroke or TIA. Brain CT showed ischemic infarcts. Two children presented with subarachnoid hemorrhage. In this group, CSF, erythrocyte sedimentation rate, and angiograms were often abnormal. No patient received immunosuppressive therapy. Five children died. Autopsy showed granulomatous IACNS (n =5). CONCLUSIONS: Clinical and radiologic features correlate with the size of affected vessels. Prognosis differs between groups. Potential markers of poor outcome are acute stroke presentation secondary to large and medium-sized artery involvement, granulomatous angiitis, and delayed institution of immunosuppressive therapy.
Adolescent↗
The dystrophy of Duchenne.
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Child, Preschool↗
Extraoperative cortical stimulation of motor function in children.
The purpose of the study was to investigate factors altering the amperage threshold needed to provoke functional responses in children with epilepsy. Twenty patients (4-18 years of age) who underwent epilepsy surgery at our institution from 1996-2000 after insertion of subdural grid electrodes were reviewed retrospectively. Extraoperative electrical cortical stimulation was performed with 50-Hz biphasic pulses of 0.2 ms in duration using a "distance reference" technique. Amperage thresholds of primary motor responses and afterdischarges were evaluated. The patients were grouped according to underlying pathology: eight with neuronal migration disorders (group A) and 12 with other disorders (group B). The motor cortex was defined successfully in all children because the afterdischarges threshold was higher than the motor cortical threshold. Amperage thresholds ranged from 2-20 mA (mean = 7.7) for primary motor function. An inverse relationship was found between amperage threshold and age: the younger the patient, the higher the threshold (P = 0.0005). Patients in group A required a higher amperage (2-20 mA, mean = 8.6) for motor cortical mapping than those in group B (2-14 mA, mean = 6.4). Younger children with neuronal migration disorders require a higher amperage threshold to achieve adequate motor functional mapping with careful observation of afterdischarges.
Adolescent↗
Radiologic-pathologic correlation in focal cortical dysplasia and hemimegalencephaly in 18 children.
To describe the radiologic-pathologic correlation in children who underwent epilepsy surgery for medically intractable epilepsy with pathologically confirmed focal cortical dysplasia and hemimegalencephaly, we conducted a retrospective review on the magnetic resonance imaging and pathology of 18 children (10 boys and 8 girls). The preoperative MRIs were reviewed by one neuroradiologist who did not know the radiologic diagnosis and the pathology reports. MRI revealed focal cortical dysplasia (10), hemimegalencephaly (3), hamartomas (2), polymicrogyria (1), pial hemosiderosis (1), and no abnormality (1). Pathologic examination revealed focal cortical dysplasia (9), forme fruste of tuberous sclerosis (5), hemimegalencephaly (3), and focal cortical dysplasia with mesial temporal sclerosis (1). MRI was accurate in making the preoperative diagnosis in 16 out of 18 patients. On MRI, 12 patients had abnormal gyral formation and 12 had abnormal cortical thickness. Eleven patients manifested loss of gray-white differentiation, and 11 patients had abnormal signal on T(2)-weighted image. Pathologically, 15 patients had neuronal heterotopia, 12 had misalignment or disorientation of neurons, 11 had large neurons, and 10 had abnormal cortical lamination. The presence of ectopic and large neurons and abnormal cortical lamination may be responsible for the MRI characteristics.
Biopsy↗
MEG predicts epileptic zone in lesional extrahippocampal epilepsy: 12 pediatric surgery cases.
PURPOSE: To discover whether the spatial distribution of spike sources determined by magnetoencephalography (MEG) provides reliable information for planning surgery and predicting outcomes in pediatric patients with lesional extrahippocampal epilepsy. METHODS: We retrospectively studied 12 children with extrahippocampal epilepsy secondary to cortical dysplasia (CD), tumor, or porencephalic cyst. We compared interictal MEG spike source locations and somatosensory evoked fields derived from equivalent-current dipole modeling with intraoperative or extraoperative electrocorticography (ECoG). RESULTS: MEG spike sources were found in proximity to the lesion in all patients and extended from lesions in five patients with CD. Marginal spike sources were noted in three patients with tumors, one patient with a cyst, and one with CD, and extramarginal sources in three patients with tumors. Three patients with tumors underwent lesionectomy only; two had further cortical excisions. One patient with CD underwent lesionectomy only, three had lesionectomy and cortical excisions, and two had lesionectomy and multiple subpial transection. Asymmetric MEG spike sources correlated with ECoG findings in all patients. Residual epileptiform discharges on postexcisional ECoG corresponded to spike sources in three patients with tumors and one patient with a cyst. Eleven patients have been seizure free for 1-6 years (mean, 4 years). One patient had residual seizures after incomplete excision of right temporal CD. CONCLUSIONS: MEG delineated asymmetric epileptogenicity surrounding lesions and the eloquent cortex. Complete tumor resection produced favorable outcomes despite residual postexcisional ECoG spikes and extramarginal MEG spike sources. CD characterized by clusters of MEG spike sources within and extending from lesions seen on magnetic resonance imaging (MRI) should be removed to prevent seizures.
Adolescent↗
The legacy of Harvey Cushing.
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History, 19th Century↗
Infantile hemangioendothelioma of the pericranium presenting as an occipital mass lesion. Case report.
The case of a newborn infant with a large midline mass in the occipital region is presented. Skull x-ray films demonstrated multiple radiolucent defects in the occipital bone. A computerized tomography scan revealed an extracranial mass lesion with marked contrast enhancement. A magnetic resonance image demonstrated that the venous drainage of the lesion passed through the occipital bone into the dural venous sinuses. The anatomy of the hindbrain was normal. The neonate was treated by complete surgical removal of the mass. The histopathological diagnosis was infantile hemangioendothelioma, a tumor commonly found in the liver but rarely in this location. The classification, histopathological characteristics, imaging studies, and treatment of this tumor are discussed.
Hemangioendothelioma↗
Molecular cytogenetic analysis of medulloblastomas and supratentorial primitive neuroectodermal tumors by using conventional banding, comparative genomic hybridization, and spectral karyotyping.
OBJECT: Medulloblastomas and related primitive neuroectodermal tumors (PNETs) of the central nervous system are malignant, invasive embryonal tumors with predominantly neuronal differentiation that comprise 20% of pediatric brain tumors. Cytogenetic analysis has shown that alterations in chromosome 17, particularly the loss of 17p and the formation of isochromosome 17q, as well as the gain of chromosome 7 are the most common changes among this group of tumors. Comparative genomic hybridization (CGH) studies have largely confirmed these cytogenetic findings and have also identified novel regions of gain, loss, and amplification. The advent of more sophisticated multicolored fluorescence in situ hybridization (FISH) procedures such as spectral karyotyping (SKY) now permits complete recognition of all aberrations including extremely complex rearrangements. The authors report a retrospective analysis of 19 medulloblastoma and five PNET cases studied using combinations of classic banding analysis, FISH, CGH, and SKY to examine comprehensively the chromosomal aberrations present in this tumor group and to attempt to identify common structural rearrangement(s). METHODS: The CGH data demonstrate gains of chromosomes 17q and 7 in 60% of the tumors studied, which confirms data reported in the current literature. However, the authors have also combined the results of all three molecular cytogenetic assays (Giemsa banding, CGH, and SKY) to reveal the frequency of chromosomal rearrangement (gained, lost, or involved in structural rearrangement). CONCLUSIONS: The combined results indicate that chromosomes 7 and 17 are the most frequently rearranged chromosomes (10.1% and 8.9%, respectively, in all rearrangements detected). Furthermore, chromosomes 3 (7.8%), 14 (7%), 10 (6.7%), and 22 (6.5%) were also found to be frequently rearranged, followed by chromosomes 6 (6.5%), 13 (6.2%), and 18 (6.2%). Eight (33%) of 24 tumors exhibited high-level gains or gene amplification. Amplification of MYCN was identified in four tumors, whereas amplification of MYCC was identified in one tumor. One tumor exhibited a high-level gain of chromosome 9p. Additionally, desmoplastic medulloblastomas and large-cell medulloblastomas exhibited higher karyotype heterogeneity, amplification, and aneusomy than classic medulloblastomas.
Brain Neoplasms↗
Primary malignant rhabdoid tumor of the brain: CT and MR findings.
PURPOSE: To describe the CT and MR findings of primary malignant rhabdoid tumor (MRT) of the brain, which is a rare but very aggressive neoplasm in childhood. MATERIALS AND METHODS: Retrospectively, we evaluated the CT and MR findings of 5 patients of primary MRT of the brain with a review of clinical records. RESULTS: The primary MRTs of the brain were large (n = 4) with a tendency to be associated with necrosis, hemorrhage (n = 2) and calcification (n = 2). Solid components of the tumor showed increased attenuation on precontrast CT scan and iso- or slightly hyper-signal intensity on T2-weighted images probably due to hypercellularity. Solid components of the tumor were also well enhanced on contrast-enhanced CT scan (n = 5) and MRI (n = 2). In 1 case with intratumoral bleeding, MR findings were variable on T1-weighted and T2-weighted images. Intracranial and intraspinal metastasis were found in 2 cases on preoperative MR studies. Follow-up CT and MR studies showed recurrence of the tumor and/or leptomeningeal metastasis in 3 cases. CONCLUSIONS: Although CT and MR findings of primary MRT of the brain are nonspecific, a tendency toward large size, calcification and intratumoral bleeding may be attributed to CT and MR findings. The solid components of tumors could present hyperdense on precontrast CT scan and iso- or slightly hyper-signal intensity on T2-weighted MR image. Preoperative and follow-up MR studies are important to detect metastatic foci.
Adolescent↗
The legacy of Jean-Martin Charcot.
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Arthropathy, Neurogenic↗
The legacy of Karl Rokitansky.
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Austria↗