Spongy degeneration in the white matter of the central nervous system in the newborn: pathological findings in three infants, one with hyperglycinaemia.

Anderson, John M.

doi:10.1136/jnnp.32.4.328

Cited by 36 publications

(10 citation statements)

References 23 publications

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“…Agenesis of the corpus callosum was noted only in a CT scan series, where the corpus callosum is frequently difficult to visualize in neonates . Agenesis of the corpus callosum was not identified in our cohort or in any of the reported brain MRI series or case reports, nor in any of the autopsy cases, except as caudal shortening . Rather, we found that the corpus callosum was present but short and thin, similar to published cases .…”

Section: Discussionsupporting

confidence: 84%

“…The restriction of proton diffusion in any direction is detectable by DWI when the axis is 14 to 16 μm . On pathology, neonates with classic NKH show a normal amount of myelin but with microvacuolation of variable sizes, with a maximum size of 300 μm, most prominently affecting the cerebellar white matter, corticospinal tracts, optic tracts, and optic nerves, and least severe in the posterior columns and anterior limb of the internal capsule . In older children with NKH, at autopsy spongiosis persisted at 15, 24, and 36 months, and even at 17 years of age, consistent with the persistence of decreased ADC values on quantitative analysis.…”

Section: Discussionmentioning

confidence: 59%

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Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype

Stence

Fenton

Levek

et al. 2019

J of Inher Metab Disea

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Patients with severe nonketotic hyperglycinemia (NKH) have absent psychomotor development and intractable epilepsy, whereas attenuated patients have variable psychomotor development and absent or treatable epilepsy; differences in brain magnetic resonance imaging (MRI) between phenotypes have not been reported. In a retrospective cross-sectional study, we reviewed 38 MRI studies from 24 molecularly proven NKH patients, and 2 transient NKH patients. Quantitative analyses included corpus callosum size, apparent diffusion coefficient, automated brain volumetric analysis, and glycine/creatine ratio by spectroscopy. All patients age <3 months had restricted diffusion in the posterior limb of the internal capsule, anterior brainstem, posterior tegmental tracts, and cerebellum, not present in transient NKH. In older infants, the pattern evolved and included generalized diffusion restriction in the supratentorial white matter, which quantitatively peaked between 3 and 12 months. No patient had absent corpus callosum or gyral malformation.The corpus callosum was relatively short in severe compared to attenuated phenotypes, and thin in severe cases only. The corpus callosum growth rate differed by severity; age-matched Z-scores of thickness worsened in severe cases only. Cerebral volume was decreased in the hippocampus, globus pallidus, cerebral cortex, thalamus, and cerebellum. Severe patients had greatest glycine/creatine ratios. In this study, no brain malformations were identified. The growth failure of the corpus callosum is worse in severe NKH, whereas the diffusion restriction pattern, reflecting microspongiosis, does not discriminate by phenotypic severity.NKH is therefore a disorder of brain growth best recognized in the corpus callosum, whereas spongiosis is not prognostic. K E Y W O R D Sbrain magnetic resonance imaging, corpus callosum, diffusion restriction, magnetic resonance spectroscopy, nonketotic hyperglycinemia, phenotypic outcome

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Section: Discussionsupporting

confidence: 84%

Section: Discussionmentioning

confidence: 59%

Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype

Stence

Fenton

Levek

et al. 2019

J of Inher Metab Disea

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“…A 16-month-old with hyperglycinuria showed no spongy changes in the brain (Nyhan et af. 1963), while five out of six babies from three families with hyperglycinemia, who expired within 20 days, showed spongiform degeneration in the central nervous system (Anderson 1968, Rushton 1968. In treated cases of maple syrup urine disease with survival past four months, status spongiosus is either absent or present to only a slight degree (Martin and Schlote 1972).…”

Section: Discussionmentioning

confidence: 99%

“…Early cases were often designated simply as 'ketotic hyperglycinemia' (Nyhan et a/. 1963, Anderson 1968, Rushton 1968, Shuman et a/. 1978 and other investigators have been aware of the possibility of confusing cases of propionic acidemia with methylnalonic acidemia (Martin and Schlote 1972).…”

Section: Introductionmentioning

confidence: 99%

The Neuropathology of Propionic Acidemia

Steinman

Clancy

Cann

et al. 1983

Develop Med Child Neuro

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SUMMARY The neuropathology in two biochemically documented cases of propionic acidemia is presented. While spongiform changes in white matter were seen in the infant who died at 12 days, no such changes were evident in an older patient who died at age 23 months. These findings are compared with other aminoacidemias. RÉSUMÉ Neuropathologie de l'acidémie propionique L'article rapporte la neuropathologie de deux cas bien explorés sur le plan biochimique d'acidémie propionique. Des modifications spongiformes de la matiére blanche ont été observées chez le nourrisson mort à 12 jours mais de telles modifications nétaient pas évidentes chez un sujet plus âgé mort à 23 mois. Ces données sont comparées avec d'autres aminoacidémies. ZUSAMMENFASSUNG Die Neuropathologie der Propionatazidose Es wird die Neuropathologie von zwei biochemisch gesicherten Fällen der Propionatazidose beschrieben. Während bei dem Säugling, der im Alter von 12 Tagen starb, spongiforme Veränderungen in der weißen Substanz gefunden wurden, konnten diese Veränderungen bei dem älteren Patienten, der im Alter von 23 Monaten starb, nicht nachgewiesen werden. Diese Befunde werden mit anderen Aminoazidurien verglichen. RESUMEN Neuropatología de la acidemia propiónica Se presenta la neuropatologia de dos casos bioquímicamente documentados de acidemia propiónica. Mientras que los cambios espongiformes en la substancia blanca se vieron en el lactante que falleció a los 12 dias, tales cambios no eran evidentes en el paciente mayor que murió a los 23 meses. Estos hallazgos se comparan con otras aminoacidemias.

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“…O n the basis of the light microscope picture Anderson (1969) maintained that the spongy cavities in this disease were located within myelin sheaths whereas Rushton (1968) placed them in glial cells. The difficulties in classifying more precisely the nature of the cavities prompted an electron-microscopical study.…”

Section: Discussionmentioning

confidence: 99%

Neonatal Non-Ketotic Hyperglycinemia a Clinical, Biochemical and Neuropathological Study Including Electronmicroscopic Findings¹

Brun¹,

Börjeson²,

Hultberg³

et al. 1979

Neuropediatrics

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In a family of four children, three died within 8 days after birth. The fourth child survived after a critical first week with the same symptoms as the siblings. He was at the age of four found to have non-ketotic hyperglycinemia. The histories and neuropathology of the other children were then reexamined. It seems highly probable that all siblings suffered from non-ketotic hyperglycinemia. This report points to the clinical, biochemical and neuropathological diagnostic problems in this disease and also adds new information on the ultrastructural changes, not hitherto visualized.

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Spongy degeneration in the white matter of the central nervous system in the newborn: pathological findings in three infants, one with hyperglycinaemia.

Cited by 36 publications

References 23 publications

Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype

Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype

The Neuropathology of Propionic Acidemia

Neonatal Non-Ketotic Hyperglycinemia a Clinical, Biochemical and Neuropathological Study Including Electronmicroscopic Findings¹

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Spongy degeneration in the white matter of the central nervous system in the newborn: pathological findings in three infants, one with hyperglycinaemia.

Cited by 36 publications

References 23 publications

Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype

Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype

The Neuropathology of Propionic Acidemia

Neonatal Non-Ketotic Hyperglycinemia a Clinical, Biochemical and Neuropathological Study Including Electronmicroscopic Findings1

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Neonatal Non-Ketotic Hyperglycinemia a Clinical, Biochemical and Neuropathological Study Including Electronmicroscopic Findings¹