doi:10.1016/j.ejpn.2008.04.014 
Copyright © 2008 European Paediatric Neurology Society Published by Elsevier Ltd.
Original article
Magnetic resonance imaging and proton magnetic resonance spectroscopy of the brain in the diagnostic evaluation of developmental delay
Krijn T. Verbruggena, 
, 
, Linda C. Meinersb, Paul E. Sijensb, Roelineke J. Lunsingc, Francjan J. van Spronsena and Oebele F. Brouwerc
aBeatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands
bDepartment of Radiology, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands
cDepartment of Paediatric Neurology, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands
Received 21 February 2008;
accepted 7 April 2008.
Available online 24 June 2008.
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Abstract
Aim
To assess the contribution of MRI and proton spectroscopy (1HMRS) in establishing an etiological diagnosis in children with developmental delay (DD) and to assess whether the chance of finding specific abnormalities correlates with the presence of neurological signs and/or abnormal head circumference (HC).
Methods
Patients were derived from a cohort of 325 consecutive patients with DD receiving structured multidisciplinary evaluation in our centre. Patients had MRI/1HMRS if a diagnosis could not be made clinically and if additional neurological signs and/or abnormal HC and/or an IQ below 50 were present. The MRI protocol consisted of axial IR, T2, FLAIR, sagittal T1 and coronal T2 sequences. Multivoxel 1HMRS was located in a plane superior to the lateral ventricles with voxels in both grey matter and white matter.
Results
One hundred and nine children were scanned, 80 of them because of neurological signs and/or abnormal HC. Although minor abnormalities were noted in the vast majority of patients, MRI and/or 1HMRS really contributed to an etiological diagnosis in only 10 (9%) patients, all of whom were scanned because of neurological signs. In these 10 patients, 1HMRS was diagnostic in one patient and of additional value to MRI findings in 3 patients.
Conclusions
MRI and 1HMRS may contribute to the diagnostic evaluation of DD, especially if applied specifically to patients with neurological signs, whereas its role is very limited in children without these signs.
Keywords: Developmental delay; Mental retardation; Diagnosis; Magnetic resonance imaging; Magnetic resonance spectroscopy
Fig. 1. Flow chart patient inclusion and study population division.
Fig. 2. Localisation 1HMRS.
Fig. 3. Semi quantitative 1HMRS results for NAA and Cho. Left to right: frontal WM, frontal GM. Upper row: NAA. Lower row: Cho. Trends of increasing NAA and deceasing Cho until about 7 years of age are clearly visible.
Fig. 4. Patient with mitochondrial respiratory chain defect, complex I deficiency. Left panel: Transversal FLAIR, showing increased signal intensity of the WM with resulting decreased demarcation between GM and WM. Right panel: 1HMRS spectrum of a 1 × 1 × 2 cm voxel located in the parietal white matter (location indicated in right upper detail), showing abnormal presence a lactate at 1.3 ppm (arrow).
Fig. 5. Transversal T2 weighted images of the patient with Joubert syndrome. The left panel shows the molar tooth sign, with elongated, vertically oriented superior cerebellar peduncles (large arrow) and deep interpeduncular fossa. The right upper detail shows the split vermis cerebelli. The right lower detail shows the batwing configuration of the fourth ventricle.
Fig. 6. Patient diagnosed with perinatal asphyxia. Left panel: (near) mid sagittal T1, showing very thin corpus callosum, especially the dorsal part of the corpus, apparently due to loss of crossing fibres. Right panel: Transversal FLAIR, showing atrophy and abnormal intensity in the thalamus bilaterally. The patient also had extensive signal intensity elevation in the precentral gyrus and corona radiata.
Fig. 7. Left panel: patient (8 years of age) with mild cognitive impairment, delayed visual maturation and slight pyramidal features at the legs. Transversal FLAIR, showing increased WM signal intensity and decreased WM – GM demarcation. IR sequences showed decreased WM signal intensity. 1HMRS was normal. Right panel: normal transversal FLAIR in a normally developing person (7 years of age).
Fig. 8. Left panel: patient moderate severe developmental delay without additional neurological signs. Abnormal appearance of the hippocampi which have a medial position with the collateral sulcus extending far cranially, giving rise to a ‘flying seagull’ configuration of the temporal horns of the lateral ventricles. Detail: magnification and schematic indication of the ‘flying seagull’. Right panel for comparison: normal appearance of the hippocampi.
Table 1.
Patient characteristics of the patients included (MRI + 1HMRS) versus the patients from the clinical population not included in the study
Table 2.
Summarised results of MRI and 1HMRS
Group A consists of the patients scanned because of neurological signs and/or abnormal HC and/or a specific indication for MRI/1HMRS. Group B consists of the patients scanned because of low level of functioning only. Rows indicate brain structures and/or loci, which were scored to be normal or abnormal. Numbers and percentages represent the number of patients with the respective MRI and 1HMRS abnormalities. Detailed information for every individual patient can be found in supplemental Table 1.
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