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71.
Grosso S Farnetani MA Berardi R Margollicci M Galluzzi P Vivarelli R Morgese G Ballestri P 《Journal of neurology》2003,250(1):17-21
Variant B1 is a rare type of GM2 gangliosidosis. Clinically, it shows a wide spectrum of forms ranging from infantile to
juvenile. We report the first magnetic resonance imaging (MRI) findings from three patients affected by GM2 gangliosidosis
variant B1, two presenting with the infantile form and one with the juvenile form. The MRI appearances of the two patients
with the infantile form disease are congruent with those reported for the early-onset type of both Tay-Sachs and Sandhoff
diseases, and are characterized by early involvement of the basal ganglia and thalamus with cortical atrophy appearing later.
In contrast, the patient with the juvenile form of variant B1 showed progressive cortical and white-matter atrophy of the
supratentorial structures and, to a lesser extent, the infratentorial structures. No basal ganglia or thalamic anomalies were
observed. Because in the adult forms of both Tay-Sachs and Sandhoff diseases a progressive cerebellar atrophy represents the
only abnormality detectable, it appears that an MRI pattern peculiar to GM2 gangliosidosis can be defined. This pattern ranges
from the basal ganglia injury associated with the early and severe demyelination process noted in the infantile form of the
disease, to cerebellar atrophy with no supratentorial anomalies in the adult form. An “intermediate” MRI picture, with cortical
atrophy and mild cerebellar atrophy, but without basal ganglia impairment, can be observed in the juvenile form. In addition,
our investigations suggest that MRI abnormalities in GM2 gangliosidosis correlate with the clinical form of the disease rather
than with the biochemical variant of the enzymatic defect.
Received: 9 January 2002, Received in revised form: 26 June 2002, Accepted: 8 July 2002
Correspondence to Paolo Balestri, M. D. 相似文献
72.
Grosso S Fioravanti A Biasi G Conversano E Marcolongo R Morgese G Balestri P 《Brain & development》2003,25(1):57-61
Linear scleroderma (LS) is characterized by scleroatrophic lesions affecting limbs and legs, unilaterally. Neurological involvement may be associated with ipsilateral facial and skull involvement in disorders referred to clinically as LS 'en coup de sabre', and Parry-Romberg syndrome.We report a child with LS presenting with a severe neurological disorder characterized by epilepsy, progressive mental deterioration and a rapid process of atrophy involving the ipsilateral cerebral hemisphere, but not associated with an overlying facial structure involvement. Functional brain studies showed a reduction in the diameter of the left internal carotid and of the left middle cerebral artery. Our observations suggest that neuroimaging studies should be considered in all patients with linear scleroderma, and such studies become necessary when neurological symptoms occur. 相似文献
73.
Peña Avila M Cogolludo Pérez FJ Silva Grosso M Santos Corchero JM Téllez Molina MJ Martín Rodilla MC Poch Broto J 《Acta otorrinolaringologica espanola》2003,54(8):597-600
Non-Hodgkin's lymphomas (NHL) are common in HIV patients, although it is rare for primary lymphomas to develop in the larynx or hypopharynx. We present the case of a patient that was diagnosed of a high degree NHL, following a biopsy of the piriform sinus' lesion, taker by direct laryngoscopy. Simultaneously he was diagnosed as HIV. The interest of this paper is the total remission of the lymphoma seen after specific HIV treatment only. 相似文献
74.
75.
G Gandini M Grosso D Righi M C Cassinis F Potenzoni L Bonardi 《La Radiologia medica》1987,74(1-2):81-87
The authors describe a new method for the treatment of pancreatic pseudocysts using a personal technique: the percutaneous pseudocystogastrostomy. Under US and fluoroscopy guidance at first a percutaneous drainage is introduced in the pseudocyst using a transgastric approach. For seven days the drainage catheter is flushed with antibiotic solution (Rifocin), then under fluoroscopy and endoscopy guidance doubled pig-tail catheter is placed with its curlend ends in the lumen of the stomach and pseudocyst respectively. After 60 days the double pig-tail catheter is removed endoscopically. Two patients with pancreatic pseudocysts were treated successful by this method. No complications or recurrences were observed. 相似文献
76.
Cherie H Dunphy Laura J Gardner Leonard E Grosso H Lance Evans 《American journal of clinical pathology》2002,117(1):24-28
We studied the flow cytometric immunophenotyping (FCI) and genotypic data of 11 specimens from 10 transplant recipients and categorized them based on a scheme for posttransplant lymphoproliferative disorders (PTLDs). Specimens had been analyzed by polymerase chain reaction and/or Southern blot for T-cell and B-cell (immunoglobulin heavy chain and light chain genes) gene rearrangements (BGR). The categories for PTLDs were as follows: 1, 1; 2, 6; and 3, 4. The plasmacytic and polymorphic B-cell hyperplasias (PBCHs) revealed no monoclonal/aberrant cells by FCI or genotypic studies (GS). Three of 4 polymorphic B-cell lymphomas (PBCLs) revealed monoclonal or aberrant (no surface light chain) B cells by FCI; 1 of 3 revealed a BGR. However, the 1 case with no monoclonal/aberrant B cells by FCI revealed a BGR. Both immunoblastic lymphomas revealed monoclonal or aberrant B cells by FCI; 1 revealed a BGR. Both multiple myelomas revealed monoclonal plasma cells by FCI; 1 revealed a BGR. In the 4 PTLDs with monoclonal/aberrant B cells by FCI and no clonality detected by GS, the GS were performed on fresh and paraffin-embedded tissue samples. FCI of the plasmacytic and PBCHs supported no clonal process by GS. FCI defined a clonal process in 2 PBCLs, I immunoblastic lymphoma, and 1 multiple myeloma that were negative by GS. However, 1 PBCL that was polyclonal by FCI was monoclonal by GS. Thus, FCI is useful for identifying a clonal process in PTLDs with negative results by GS; FCI and GS should be performed routinely in PTLDs to detect a clonal process. 相似文献
77.
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79.
Patent Ductus Arteriosus (PDA) has a prevalence of approximately 25% in neonates of less than 33 weeks gestation. Failure to treat increases the mortality risk in these preterm infants. Intravenous Ibuprofen has recently been licensed in the United Kingdom as a treatment for this condition. This article reviews the clinical efficacy, side effect profile and dosing/administration schedule of this drug and discusses the warnings and precautions currently attributed to this formulation. Ibuprofen provides a further option for neonatologists in the management of PDA. 相似文献
80.