Neonatal nonketotic hyperglycinemia: diffusion-weighted magnetic resonance imaging and diagnostic clues

Zübarioğlu, Tanyel; Kıykım, Ertuğrul; Cansever, Mehmet Şerif; Aktuğlu-Zeybek, Çiğdem; Yalçınkaya, Cengiz

doi:10.1007/s13760-015-0583-0

Cited by 5 publications

(4 citation statements)

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“…Furthermore, the only conventional MRI finding for both patients was a hypoplastic corpus callosum. In literature, white matter abnormalities, like diffusion restriction on DWI in myelinated areas and corpus callosum hypoplasia/agenesis, have been reported in patients affected by NKH [10][11][12]. In one of our two NKH cases, we observed a subcortical grey matter volumetric deficit, in line with previous reports of basal ganglia atrophy and diffusion restriction in the globus pallidus [20].…”

Section: Discussionsupporting

confidence: 91%

“…Some limitations of this study are worth mentioning. We enrolled patients from various centres, although most of them were recruited in our centre (12). For patients from other centres, we relied on clinical reports by the corresponding paediatric neurologists.…”

Section: Discussionmentioning

confidence: 99%

“…CSF analysis is crucial in the diagnosis of glycine and serine disorders whilst quantification of 4-hydroxybutyrate in urine is pivotal for GABA disorders. Amino acid defects have a repertoire of neuroradiological signs: corpus callosum abnormalities, as well as diffusion restriction on DWI in the already myelinated areas at birth (brainstem, cerebellum, corticospinal tract, the perirolandic area), brain atrophy and malformations have been reported in nonketotic hyperglycinemia (NKH) [10][11][12]. Pallidum and cerebellum involvement, as well as white matter changes, has been described in succinate semialdehyde dehydroxylase deficiency (SSADHD) [13], whilst signal alterations of thalami, bilateral putamen and caudate nucleus have been occasionally reported [14].…”

Section: Introductionmentioning

confidence: 99%

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Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders

et al. 2022

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Purpose Inborn errors of neurotransmitters are rare monogenic diseases. In general, conventional neuroimaging is not useful for diagnosis. Nevertheless, advanced neuroimaging techniques could provide novel diagnosis and prognosis biomarkers. We aim to describe cerebral volumetric findings in a group of Spanish patients with neurotransmitter disorders. Methods Fifteen 3D T1-weighted brain images from the International Working Group on Neurotransmitter related Disorders Spanish cohort were assessed (eight with monoamine and seven with amino acid disorders). Volumes of cortical and subcortical brain structures were obtained for each patient and then compared with those of two healthy individuals matched by sex and age. Results Regardless of the underlying disease, patients showed a smaller total cerebral tissue volume, which was apparently associated with clinical severity. A characteristic volumetric deficit pattern, including the right Heschl gyrus and the bilateral occipital gyrus, was identified. In severe cases, a distinctive pattern comprised the middle and posterior portions of the right cingulate, the left superior motor area and the cerebellum. In succinate semialdehyde dehydrogenase deficiency, volumetric affection seems to worsen over life. Conclusion Despite the heterogeneity and limited size of our cohort, we found novel and relevant data. Total volume deficit appears to be a marker of severity, regardless of the specific neurotransmitter disease and irrespective of the information obtained from conventional neuroimaging. Volumetric assessment of individual brain structures could provide a deeper knowledge about pathophysiology, disease severity and specific clinical traits. KeywordsInherited neurotransmitter disorders • Monoamines • Amino acids • Neuroimaging • Brain volumetric study • Volumetric deficit Abbreviations GABA Gamma-aminobutyric acid CSF Cerebrospinal fluid MRI Magnetic resonance imaging iNTD International Working Group on Neurotransmitter related Disorders AADCD Aromatic amino acid decarboxylase deficiency ADGTPCHD Autosomal dominant GTP cyclohydrolase deficiency ARGTPCHD Autosomal recessive GTP cyclohydrolase deficiency MAOA-BD Monoamine oxidase A and B deficiency NKH Non-ketotic hyperglycinemia PTPSD 6-Pyruvoyl-tetrahydropterin synthase deficiency SSADHD Succinate-semialdehyde-dehydroxylase deficiency THD Tyrosine hydroxylase deficiency Chiara Alfonsi and Christian Stephan-Otto contributed equally to this work.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders

et al. 2022

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“…The patients carrying the attenuated form of the disease with at least one mutation with residual enzyme activity are still preserved; those patients can present with equal incidence either in the neonatal period or later in infancy period, show mild to severe delayed development, and may have associated seizures. Patients with the severe form of disease present early in the first week of life typically with myoclonic epilepsy often with EEG changes, lethargy progressing to coma, and apnea that requires ventilation [1,4,[8][9][10][11][12].…”

Section: Introductionmentioning

confidence: 99%

Reliability of MRI in detection and differentiation of acute neonatal/pediatric encephalopathy causes among neonatal/pediatric intensive care unit patients

Hassan

Mohey

2020

Egypt J Radiol Nucl Med

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Background: Causes of encephalopathy in neonates/pediatrics include hypoxic-ischemic injury (which is the most frequent cause and is defined as any impairment to the brain caused by insufficient blood flow and oxygenation), trauma, metabolic disorders, and congenital and infectious diseases. The aim of this study is to evaluate the value of MRI in detection and possible differentiation of different non-traumatic, non-infectious causes of acute neonatal/ pediatric encephalopathy among NICU/PICU patients. Results: This retrospective study included 60 selected patients according to the study inclusion and exclusion criteria; all presented with positive MRI findings for non-traumatic, non-infectious acute brain injury. Females (32, 53.3%) were affected more than males (28, 46.7%) with a mean age of 1.1 ± 1.02 years; all presented with variable neurological symptoms and signs that necessitate neonatal intensive care unit/pediatric intensive care unit (NICU/ PICU) admission. The final diagnosis of the study group patients were hypoxic ischemia injury (HII) in 39 patients (65%), metachromatic leukodystrophy in 6 patients (10%), biotin-thiamine-responsive basal ganglia disease (BTBGD) and Leigh disease each in 4 patients (6.7%), periventricular leukomalacia (PVL) in 3 patients (5%), and mitochondrial encephalopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) and non-ketotic hyperglycinemia (NKH) each in 2 patients (3.3%). Conclusion: Much attention should be paid to pediatric non-traumatic brain injuries. MRI is a safe modality and should be the first radiological investigation if neurological causes are suggested but should be aided by meticulous clinical evaluation and dedicated laboratory investigations for better characterization and differentiation of various causes of non-traumatic, non-infective brain encephalopathy among NICU/PICU patients. When interpreting MRI, it is essential to have thorough relevant clinical data, gestational age at birth which is prognostic of the pattern of hypoxic-ischemic injury, and the time lag between the onset of HII and the time of performing the MR study.

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Nonketotic hyperglycinemia: spectrum of imaging findings with emphasis on diffusion-weighted imaging

Mohammad

Abd-Elkhalek

2017

Neuroradiology

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Neonatal nonketotic hyperglycinemia: diffusion-weighted magnetic resonance imaging and diagnostic clues

Cited by 5 publications

References 3 publications

Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders

Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders

Reliability of MRI in detection and differentiation of acute neonatal/pediatric encephalopathy causes among neonatal/pediatric intensive care unit patients

Nonketotic hyperglycinemia: spectrum of imaging findings with emphasis on diffusion-weighted imaging

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