A rare inborn error of metabolism associated with a Dandy–Walker malformation

Limeme, Manel; Zaghouani, Houneida; Amara, H.; Bakir, D.; Chekib, Kraiem

doi:10.1007/s13760-012-0098-x

Cited by 6 publications

(4 citation statements)

References 3 publications

(7 reference statements)

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“…In patients with attenuated NKH, the glycine peak can be difficult to see on MRS, hence appearing to be of lower amount, consistent with our findings . A small lactate peak rarely observed on MRS was not identified in our study …”

Section: Discussionsupporting

confidence: 90%

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: 90%

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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“…Cerebellar vermian hypoplasia, basal ganglia atrophy, gyral abnormalities, and supratentorial hydrocephalus have also been rarely associated with NKH. [63][64][65][66][67] The presence of hydrocephalus was suggested to be a poor prognostic indicator. 67 It was previously reported that the abnormal signal on T2-weighted images and diffusion-weighted imaging (DWI) was confined to white matter regions that were normally expected to be myelinated at a given age.…”

Section: Nonketotic Hyperglycinemiamentioning

confidence: 99%

Neuroimaging Spectrum of Inherited Neurotransmitter Disorders

et al. 2019

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Inherited neurotransmitter disorders are rare neurometabolic conditions which encompass genetic disorders of neurotransmitter metabolism or transport. The clinical manifestations of these rare disorders are often nonspecific, ranging from encephalopathies and seizures to movement disorders. As a consequence, neurotransmitter disorders are underrecognized and often misdiagnosed. Accurate and timely diagnosis is, however, of utmost importance, given the availability of therapeutic strategies. A high index of clinical suspicion and familiarity with the neuroimaging phenotypes is therefore crucial. While the imaging features of various neurotransmitter disorders often overlap and are nonspecific, imaging can be helpful in providing useful clues to guide the diagnostic algorithm for uncommon conditions in a neonate presenting with nonspecific neurological symptoms. In this review paper, we aim to bring together current knowledge of neuroimaging phenotypes associated with inherited (primary) disorders of neurotransmitter biosynthesis. Magnetic resonance imaging phenotypes of disorders of monoamine biosynthesis, primary cerebral folate deficiency, disorders of pyridoxine metabolism, disorders of gamma-aminobutyric acid metabolism, nonketotic hyperglycinemia (glycine encephalopathy), disorders of serine biosynthesis, and cerebral creatine deficiency syndrome will be discussed and illustrated with case examples.

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“…Cerebellar atrophy was reported only in one glycine encephalopathy patient ( Supplementary Table S1 ) [ 1 , 30 ]. Our patient is the second case presenting with Dandy-Walker malformation [ 31 ]. Our study shows that apneic episode/respiratory distress is one of the most common clinical features which was observed in 37% patients with glycine encephalopathy ( Supplementary Table S1 ).…”

Section: Discussionmentioning

confidence: 99%