Prenatal cerebral ultrasound and MRI findings in glutaric aciduria Type 1: a <i>de novo</i> case

Mellerio, Charles; Marignier, S.; Roth, P.A. Ndoye; Gaucherand, P.; Portes, Vincent Des; Pracros, Jean‐Pierre; Guibaud, Laurent

doi:10.1002/uog.5336

Cited by 29 publications

(16 citation statements)

References 9 publications

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“…Like the cases discussed, macrocephaly is noted at or shortly after birth or even during pregnancy in most GA-1 patients (75%) 3,8,15,16,17,27 . In fact, patient 1 showed a slight relative macrocephaly at birth, which was progressive, attracting her mother's attention.…”

Section: Discussionmentioning

confidence: 59%

“…A few patients, with insidious-onset 13 and late-onset 14 types of GA-1, have neurological disease without encephalopathic crisis. Frequently, the first disease manifestation is a developing macrocephaly, which may already be present at birth 3,8,15 and even in the prenatal period 16,17 . Neuroimaging findings are highly variable in GA-1, although the combinations of some features should raise the suspicion of this diagnosis.…”

Section: Introductionmentioning

confidence: 99%

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Brain MRI Findings as an Important Diagnostic Clue in Glutaric Aciduria Type 1

Nunes¹,

Loureiro

Carvalho³

et al. 2013

Neuroradiol J

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Section: Discussionmentioning

confidence: 59%

Section: Introductionmentioning

confidence: 99%

Brain MRI Findings as an Important Diagnostic Clue in Glutaric Aciduria Type 1

Nunes¹,

Loureiro

Carvalho³

et al. 2013

Neuroradiol J

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“…However, recent studies suggest that neurological damage can occur in the absence of an encephalopathic crisis due to neurotoxicity in utero or early life and that this may be associated with delayed myelination and brain maturation (Harting et al 2009). This theory is supported by findings of brain abnormalities and widening of the sylvian fissures and fronto-temporal atrophy in newborns and as early as 33 weeks gestation (Lin et al 2002;Mellerio et al 2008), which may resolve over time (Viau et al 2012).…”

Section: Introductionmentioning

confidence: 80%

“…The consistency of this finding at both time points indicates that this deficit is an on-going clinical feature of GA-I, likely to be due to an early impact of GA-I on brain development. Early effects of GA-I on the brain have been documented in newborns and as early as 33 weeks gestation (Lin et al 2002;Mellerio et al 2008). GA-I causes striatal and fronto-temporal pathology (Harting et al 2009), areas that are associated with motor skills and motor planning (Groenewegen et al 2003).…”

Section: Motor Skillsmentioning

confidence: 99%

Neurodevelopmental Profiles of Children with Glutaric Aciduria Type I Diagnosed by Newborn Screening: A Follow-Up Case Series

et al. 2014

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Glutaric aciduria type I (GA-I) is an inherited metabolic disorder that may lead to severe motor disorder and cognitive impairment. GA-I is now included in the newborn screening programme in many countries as early detection allows for prompt treatment and effectively reduces the risk of poor developmental outcome. Information regarding the long-term neurodevelopmental outcome of children with GA-I treated early is sparse.We recruited children with a confirmed diagnosis of GA-I diagnosed via newborn screening, treated in our centre and >3 years of age (n = 6). Children were assessed at two time points using a comprehensive neuropsychological test battery. Four of these had been the subject of a previous report. All participants were male, 3-6 years at the initial assessment and 6-12 years of age at the follow-up assessment.Fine motor skills were below average in all patients. Speech, which was affected in all four patients reported previously, improved following speech therapy. IQ scores remained generally stable within the normal range. Executive functioning was average to high average in four patients. Behaviour, as assessed through parental questionnaires, was problematic in two patients. Compounding factors included child neglect, family history of autism and multiple admissions to hospital (n = 1 in each).GA-I affects fine motor skills and speech, regardless of early treatment, but not IQ scores. Patients with GA-I should be referred for assessment and appropriate early intervention. Further research is needed to correlate specific neuropsychological deficits with neuroimaging.

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“…They are already present at birth in preterm and term babies and can even be observed during the last trimester of pregnancy [18, 28–30]. The appearance of the anterior temporal lobe and Sylvian fissure in infants is similar to stages of normal development, gyration and opercularization occurring latest in the fronttemporal area.…”

Section: Discussionmentioning

confidence: 99%

Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity

Boy

Heringer

Brackmann

et al. 2017

Orphanet J Rare Dis

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BackgroundWithout neonatal initiation of treatment, 80–90% of patients with glutaric aciduria type 1 (GA1) develop striatal injury during the first six years of life resulting in a complex, predominantly dystonic movement disorder. Onset of motor symptoms may be acute following encephalopathic crisis or insidious without apparent crisis. Additionally, so-called late-onset GA1 has been described in single patients diagnosed after the age of 6 years. With the aim of better characterizing and understanding late-onset GA1 we analyzed clinical findings, biochemical phenotype, and MRI changes of eight late-onset patients and compared these to eight control patients over the age of 6 years with early diagnosis and start of treatment.ResultsNo late-onset or control patient had either dystonia or striatal lesions on MRI. All late-onset (8/8) patients were high excretors, but only four of eight control patients. Two of eight late-onset patients were diagnosed after the age of 60 years, presenting with dementia, tremor, and epilepsy, while six were diagnosed before the age of 30 years: Three were asymptomatic mothers identified by following a positive screening result in their newborns and three had non-specific general symptoms, one with additional mild neurological deficits. Frontotemporal hypoplasia and white matter changes were present in all eight and subependymal lesions in six late-onset patients. At comparable age a greater proportion of late-onset patients had (non-specific) clinical symptoms and possibly subependymal nodules compared to control patients, in particular in comparison to the four clinically and MR-wise asymptomatic low-excreting control patients.ConclusionsWhile clinical findings are non-specific, frontotemporal hypoplasia and subependymal nodules are characteristic MRI findings of late-onset GA1 and should trigger diagnostic investigation for this rare disease. Apart from their apparent non-susceptibility for striatal injury despite lack of treatment, patients with late-onset GA1 are not categorically different from early treated control patients. Differences between late-onset patients and early treated control patients most likely reflect greater cumulative neurotoxicity in individuals remaining undiagnosed and untreated for years, even decades as well as the higher long-term risk of high excretors for intracerebral accumulation of neurotoxic metabolites compared to low excretors.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-017-0612-6) contains supplementary material, which is available to authorized users.

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Prenatal cerebral ultrasound and MRI findings in glutaric aciduria Type 1: a de novo case

Cited by 29 publications

References 9 publications

Brain MRI Findings as an Important Diagnostic Clue in Glutaric Aciduria Type 1

Brain MRI Findings as an Important Diagnostic Clue in Glutaric Aciduria Type 1

Neurodevelopmental Profiles of Children with Glutaric Aciduria Type I Diagnosed by Newborn Screening: A Follow-Up Case Series

Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity

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