Spettroscopia RM protonica a Voxel singolo nello studio delle malattie della sostanza bianca in età pediatrica

Bianchi, Maria Cristina; Tosetti, Michela; Cioni, Giovanni; Fonda, Claudio; Valleriani, A.M.; Montanaro, Domenico; Abbruzzese, A.; Canapicchi, R.

doi:10.1177/197140099901200127

Cited by 5 publications

(5 citation statements)

References 6 publications

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“…MRI showed in both pachygyria and polymicrogyria as previously described [1,9]. Patients were studied in two different MR departments, using different protocols and therefore metabolite ratios have been compared with the normal values of the corresponding MR laboratory [2,5]. Regardless of the different MRS protocols, in both cases spectroscopy demonstrated a marked decrease of NAA, indicating impairment of normal neuronal development as well as neuronal cell death, and an abnormal resonances at 0.9 ppm with an abnormal brain lactate accumulation at 1.33 ppm.…”

Section: Discussionmentioning

confidence: 99%

“…Spectra were evaluated by comparing amplitude of the resonance signals; peak amplitude was determined assuming Lorentzian line shape and evaluating the baseline noise standard deviation. Results of signal amplitude of each metabolite were calculated as relative values with respect to Cr/PCr peak at 3.05 ppm, considered as internal reference, and were compared to the control values of our MR laboratory [2]. In Fig.…”

Section: Casementioning

confidence: 99%

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Proton Magnetic Resonance Spectroscopy (¹H-MRS) of the Cerebrum in Two Young Infants with Zellweger Syndrome

Groenendaal¹,

Bianchi²,

Battini³

et al. 2001

Neuropediatrics

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Cerebral metabolic abnormalities have been previously detected by 1H-MRS in infants with the Zellweger syndrome as young as 3 months. We hypothesized that metabolic abnormalities could also be found shortly after birth. Two fullterm infants with Zellweger syndrome were studied at 12 days and two months of age, respectively, using single voxel 1H-MRS. In the first case 1H-MRS was performed using PRESS with variable TE (31, 136, 272 ms); in the second, STEAM and PRESS sequences were used with different TE (STEAM at 30 and 144 ms; PRESS at 270 ms). In both cases a significant decrease of N-acetylaspartate (NAA) and an abnormal signal at 1.33 and 0.9 ppm, consisting of lactate (Lac) and lipids (Lip) were found. The reported MRS abnormalities, although not specific for peroxisomal dysfunctions, may support the suspicion of Zellweger syndrome and may indicate direct referral to the specific laboratory and molecular studies necessary to establish the diagnosis and prognosis of this syndrome.

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Section: Discussionmentioning

confidence: 99%

Section: Casementioning

confidence: 99%

Proton Magnetic Resonance Spectroscopy (¹H-MRS) of the Cerebrum in Two Young Infants with Zellweger Syndrome

Groenendaal¹,

Bianchi²,

Battini³

et al. 2001

Neuropediatrics

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“…Brain MRI showed incomplete myelinization. Proton magnetic resonance spectroscopy ( 1 H‐MRS) [Mascalchi et al, 1998; Bianchi et al, 1999], acquired in the occipital cortex and in the periventricular white‐matter, showed normal results.…”

Section: Clinical Reportmentioning

confidence: 99%

Characterization of the phenotype and definition of the deletion in a new patient with ring chromosome 22

Battini

Battaglia

Bertini

et al. 2004

American J of Med Genetics Pt A

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The clinical phenotype of patients with ring chromosome 22 includes mental retardation with severe language impairment, hypotonia, and dysmorphic facial features. In recent years an increasing number of patients with microscopic as well as cryptic terminal deletion involving band 22q13 have been described and their phenotype shows clinical features overlapping with patients with ring chromosome 22. Loss of DNA in the 22q13.3 region may lead to a clinically recognizable syndrome named "22q13.3 deletion syndrome." We report a patient with a ring chromosome 22 who has hypotonia, profound mental retardation, language impairment, dysmorphic features, and behavioral disorders. To check if the critical region responsible for "22q13.3 deletion syndrome" was absent in this ring, a fluorescent in situ hybridization (FISH) analysis using a probe corresponding to the ARSA locus was performed. In our patient, only one ARSA signal could be detected, indicating that the deletion encompassed the critical 22q13.3 region. A more detailed analysis of the deletion extent then was performed using a panel of fluorescent probes located within 22q13. These experiments allowed the identification of the breakpoint between CTA-299D3 and RP5-925J7 probe, located in 22q13.32. Deletion extent could be estimated to be about 2.5 Mb, and this larger deletion may explain the severity of clinical features observed in our patient.

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“…Spectra were acquired and analyzed according to the procedure published elsewhere. 6,7 Magnetic resonance imaging demonstrated large and grossly symmetric hyperintensity of the parieto-occipital white matter and many small and scattered hyperintense foci involving the subcortical U fibers. These features were associated with the presence of bilateral and symmetric cysts confined to the anterior temporal lobes whose signal intensity was like that of the cerebrospinal fluid on every pulse sequence (Figure 1A, 1B).…”

Section: Case Reportmentioning

confidence: 99%

“…There is a rare distinct form of infantile bilateral striatal necrosis that appears in previously normal patients and is characterized by acute neurologic dysfunction, clinical and laboratory findings suggestive of central nervous system viral infection, characteristic neuroradiologic pattern, and remarkable clinical recovery. [1][2][3][4][5][6][7][8][9][10] The onset of the illness usually follows an infectious disease, but the causal agent has rarely been identified. The term "acute neurologic dysfunction associated with destructive lesions of the basal ganglia" and the shorter term "acute encephalopathy with bilateral striatal necrosis" for the designation of this distinctive clinicopathologic condition have been proposed.…”

Section: Long-term Findings On Brain Magnetic Resonance Imaging In Acmentioning

confidence: 99%

Leukoencephalopathy With Bilateral Anterior Temporal Lobe Cysts: A Further Case of This New Entity

et al. 2002

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The introduction of magnetic resonance imaging (MRI) and magnetic resonance spectroscopy into clinical practice has permitted advances in the definition and categorization of unknown leukodystrophies in children. We report a new type of leukodystrophy, defined by particular MRI and clinical findings, in a child with uneventful pre- and perinatal histories, spasticity, severe mental impairment with absence of language, and deafness. Brain MRI showed lobar white-matter signal abnormalities with extensive cysts in the anterior temporal lobe. The results of all metabolic screening tests, including the specific investigations for leukodystrophy, have been negative. Six years of clinical and MRI-magnetic resonance spectroscopy patient follow-up indicate a nonprogressive clinical and magnetic resonance picture. Owing to the striking similarities with the previous eight patients reported, this additional case supports the identification of a new leukodystrophy.

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Spettroscopia RM protonica a Voxel singolo nello studio delle malattie della sostanza bianca in età pediatrica

Cited by 5 publications

References 6 publications

Proton Magnetic Resonance Spectroscopy (¹H-MRS) of the Cerebrum in Two Young Infants with Zellweger Syndrome

Proton Magnetic Resonance Spectroscopy (¹H-MRS) of the Cerebrum in Two Young Infants with Zellweger Syndrome

Characterization of the phenotype and definition of the deletion in a new patient with ring chromosome 22

Leukoencephalopathy With Bilateral Anterior Temporal Lobe Cysts: A Further Case of This New Entity

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Spettroscopia RM protonica a Voxel singolo nello studio delle malattie della sostanza bianca in età pediatrica

Cited by 5 publications

References 6 publications

Proton Magnetic Resonance Spectroscopy (1H-MRS) of the Cerebrum in Two Young Infants with Zellweger Syndrome

Proton Magnetic Resonance Spectroscopy (1H-MRS) of the Cerebrum in Two Young Infants with Zellweger Syndrome

Characterization of the phenotype and definition of the deletion in a new patient with ring chromosome 22

Leukoencephalopathy With Bilateral Anterior Temporal Lobe Cysts: A Further Case of This New Entity

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Proton Magnetic Resonance Spectroscopy (¹H-MRS) of the Cerebrum in Two Young Infants with Zellweger Syndrome

Proton Magnetic Resonance Spectroscopy (¹H-MRS) of the Cerebrum in Two Young Infants with Zellweger Syndrome