Correlation between the lateral and anteroposterior sacral ratios in anorectal malformations.

BACKGROUND: The sacral ratio has been used as a tool for evaluating sacral development in patients with anorectal malformations. Sacral ratios can be calculated by obtaining sacral radiographs in the anteroposterior (AP) and lateral planes. OBJECTIVE: The objective of the study was to determine the correlation and agreement in sacral ratio calculations. MATERIALS AND METHODS: In this single institution retrospective cohort study, we reviewed medical charts of all pediatric anorectal malformation patients treated between March 2014 and September 2018 who had both AP and lateral images of their sacrum. All sacral ratios were measured by three radiologists. Pearson's correlation coefficients and corresponding 95% confidence intervals (CIs) were used to assess the correlation between the AP and lateral radiographs. A weighted Kappa statistic was used to measure the agreement between how the AP and lateral sacral ratios categorized observations into risk groups. RESULTS: Our initial cohort consisted of 646 observations from patients with anorectal malformations who had radiographs obtained in both AP and lateral planes. We excluded all observations (n=76) where the radiographs were deemed to be inadequate or not appropriately centered to measure sacral ratio. For a given pair of measurements, the mean lateral sacral ratio was 0.07 units greater than the AP plane (95% CI 0.06-0.09, paired t-test P-value <0.0001). AP and lateral images had a moderate positive correlation (Pearson's r=0.76, 95% CI 0.73-0.79, P<0.0001) and moderate agreement in risk categorization (unweighted kappa = 0.60, P<0.0001). AP and lateral readings conducted by all three radiologists had excellent inter-rater reliability with intraclass correlations for AP and lateral sacral ratios of 0.88 and 0.84, respectively. CONCLUSION: Even though the AP and lateral sacral ratios had moderate positive correlation, the mean sacral ratio determined by images in the lateral plane was 0.07 units greater than the AP plane. AP and lateral sacral ratios concluded different risk categories relatively often. Future studies are needed to determine whether AP or lateral sacral ratios correlate better with continence in patients with anorectal malformations.

Post-contrast T1-weighted spine 3T MRI in children using a golden-angle radial acquisition.

PURPOSE: MRI methods that have reduced sensitivity to motion are attractive in pediatric applications. In spine imaging, physiologic motion such as respiration and cerebrospinal fluid pulsation can hamper diagnostic image quality. We compare a 3D T1-weighted non-Cartesian radial acquisition with a conventional Cartesian 2D turbo-spin-echo (TSE) acquisition in axial post-contrast spine imaging at 3T. METHODS: Thirty-two patients (mean age 12.2 ± 5.3 years) scheduled for routine clinical spine exams with contrast were enrolled. Three pediatric neuroradiologists compared the two sequences and assessed the presence of motion, the conspicuity of nerve roots, and whether one of the sequences was preferred in visualizing pathology using Likert scales. RESULTS: The Fleiss' kappa statistic for inter-rater agreement was 0.29 (95% confidence interval, 0.15-0.43) for the presence of motion, 0.30 (0.21-0.38) for conspicuity, and 0.37 (0.19-0.55) for sequence preference. Radial images were less sensitive to motion than TSE (p < 0.01). Motion and consequent artifacts were present in all TSE cases, while it was absent in 51% of the radial cases. In depicting nerve roots, radial images were superior in the cervical (p < 0.05), thoracic (p < 0.01), and lumbar spines (p < 0.01). Lastly, in 28 of the 32 patients who demonstrated contrast-enhancing pathology, radial images were preferred in 51% of the cases, while both sequences were equally preferred in 41% of the cases. CONCLUSION: We demonstrate the potential utility of radial MRI in post-contrast spine imaging. The free-breathing method is robust in generating diagnostic image quality and is superior in visualizing nerve roots and extramedullary metastases than traditional Cartesian TSE acquisitions.

New C2 synchondrosal fracture classification system.

BACKGROUND: Excessive cervical flexion-extension accompanying mild to severe impact injuries can lead to C2 synchondrosal fractures in young children. OBJECTIVE: To characterize and classify C2 synchondrosal fracture patterns. MATERIALS AND METHODS: We retrospectively reviewed imaging and medical records of children who were treated for cervical spine fractures at our institution between 1995 and 2014. We reviewed all fractures involving the five central C2 synchondroses with regard to patient demographics, mechanism of injury, fracture pattern, associated fractures and other injuries, treatment plans and outcome. RESULTS: Fourteen children had fractures involving the central C2 synchondroses. There were nine boys and five girls, all younger than 6 years. We found four distinct fracture patterns. Eleven complete fractures were further divided into four subtypes (a, b, c and d) based on degree of anterior displacement of the odontoid segment and presence of distraction. Nine of these 11 children had fractures through both odontoneural synchondroses and the odontocentral synchondrosis; one had fractures involving both neurocentral synchondroses and the odontoneural synchondrosis; one had fractures through bilateral odontoneural and bilateral neurocentral synchondroses. Three children had incomplete fractures, defined as a fracture through a single odontoneural synchondrosis with or without partial extension into either the odontocentral or the adjacent neurocentral synchondroses. All complete fractures were displaced or angulated. Four had associated spinal cord injury, including two contusions (subtype c fractures) and two fatal transections (subtype d fractures). Most children were treated with primary halo stabilization. Subtype c fractures required surgical fixation. CONCLUSION: We describe four patterns of central C2 synchondrosal fractures, including two unique patterns that have not been reported. We propose a classification system to distinguish these fractures and aid in treatment planning.

Neonatal deep white matter venous infarction and liquefaction: a pseudo-abscess lesion.

BACKGROUND: Deep white matter hemorrhagic venous infarction with subsequent cavitation due to necrosis and liquefaction has been described in neonates and may be associated with infection and meningitis. In our experience, the MRI pattern of these lesions is confused with the pattern seen with cerebral abscesses. OBJECTIVE: The purpose of our study was to characterize the MRI findings of post infarction necrosis and liquefaction after hemorrhagic deep white matter venous infarction in infants and to distinguish these lesions from cerebral abscesses. MATERIALS AND METHODS: An institutional review board approved a retrospective review of imaging records to identify all patients with cerebral venous infarction at a children's hospital during a 10-year period. Nine infants had deep white matter hemorrhagic venous infarction with white matter fluid signal cavitary lesions. A diagnosis of cerebral abscess was considered in all. The imaging and laboratory findings in these patients are reviewed and compared to descriptions of abscesses found in the literature. RESULTS: There were six female and three male infants. The mean age at presentation was 20 days (range: 0-90 days), while the corrected age at presentation was less than 30 days for all patients. Seven patients presented with seizures and signs of infection; one infant presented with lethargy and later proved to have protein C deficiency. MRI was performed 0-12 days from presentation in these eight patients. Another patient with known protein C deficiency underwent MRI at 30 days for follow-up of screening US abnormalities. There were a total of 38 deep cerebral white matter fluid signal cavitary lesions: 25 frontal, 9 parietal, 2 temporal, 2 occipital. Larger lesions had dependent debris. All lesions had associated hemorrhage and many lesions had evidence of adjacent small vessel venous thrombosis. Lesions imaged after gadolinium showed peripheral enhancement. Three lesions increased in size on follow-up imaging. Three patients, two with meningitis confirmed via microbiology and one with presumed meningitis by CSF counts, underwent surgical aspiration of a total of six lesions. All specimens were sent for pathology and culture and were negative for microorganisms. CONCLUSION: Recognizing the MR appearance of cavitary necrosis and liquefaction after deep white matter cerebral venous infarction in neonates can distinguish this entity from cerebral abscess and potentially avoid an unnecessary neurosurgical aspiration procedure.

Cerebral perfusion and neurological examination characterise neonatal opioid withdrawal syndrome: a prospective cohort study.

OBJECTIVE: To test the hypothesis that cerebral blood flow (CBF) assessed with arterial spin labelling (ASL) MRI is increased and standardised neurological examination is altered in infants with neonatal opioid withdrawal syndrome (NOWS) compared with those without. DESIGN: Prospective cohort study. SETTING: Level IV neonatal intensive care unit and outpatient primary care centre. PARTICIPANTS: Infants with NOWS receiving pharmacological treatment and unexposed controls matched for gestational age at birth and post-menstrual age at MRI. MAIN OUTCOMES: CBF assessed by ASL on non-sedated 3-Tesla MRI and standardised Hammersmith Neonatal Neurological Examination (HNNE) within 14 days of birth. RESULTS: Thirty infants with NOWS and 31 control infants were enrolled and included in the final analysis. Global CBF across the brain was higher in the NOWS group compared with controls (14.2 mL/100 g/min±5.5 vs 10.7 mL/100 g/min±4.3, mean±SD, Cohen's d=0.72). HNNE total optimality score was lower in the NOWS group compared with controls (25.9±3.6 vs 28.4±2.4, mean±SD, Cohen's d=0.81). A penalised logistic regression model including both CBF and HNNE items discriminated best between the two groups. CONCLUSIONS: Increased cerebral perfusion and neurological examination abnormalities characterise infants with NOWS compared with those without intrauterine drug exposure and suggest prenatal substance exposure affects fetal brain development. Identifying neurological and neuroimaging characteristics of infants with NOWS can contribute to understanding mechanisms underlying later outcomes and to designing potential new treatments.

Deep Medullary Vein White Matter Injury Global Severity Score Predicts Neurodevelopmental Impairment.

AIM: To examine associations between the deep medullary vein white matter injury global severity scoring system and neurodevelopmental impairment. METHODS: This is a prospective observational cohort study of infants born at ≥32 weeks, diagnosed with deep medullary vein thrombosis and infarction on neuroimaging in the first month of life. Developmental testing was performed using validated measures for early, preschool, and school-age follow-up. RESULTS: Nineteen (37%) patients had major neurodevelopmental impairment. Global severity score was higher among patients with neurodevelopmental impairment (21.6 vs 13.4, P = .04). Overall, 78% of patients with epilepsy had neurodevelopmental impairment. A greater degree of asymmetry with right-sided injury predominance was associated with lower Bayley-III cognitive scores and presence of neurodevelopmental impairment (P < .01). CONCLUSIONS: Results suggest a need for targeted clinical surveillance for patients with a high global severity score and/or asymmetric, predominantly right cerebral white matter injury and for those who develop epilepsy.

Multidelay Arterial Spin Labeling MRI in the Assessment of Cerebral Blood Flow: Preliminary Clinical Experience in Pediatrics.

OBJECTIVES: We attempted to demonstrate the clinical applicability and utility of a three-dimensional multidelay arterial spin labeling magnetic resonance imaging technique in pediatric neuroimaging through a series of case studies. METHODS: Whole-brain three-dimensional multidelay arterial spin labeling data were acquired in five pediatric patients with different neurological conditions using 3 mm to 4 mm slices and a scan time of six to seven minutes. RESULTS: Three-dimensional multidelay arterial spin labeling provided complementary diagnostic information via quantitative cerebral blood flow and arterial transit time maps. CONCLUSIONS: Three-dimensional multidelay arterial spin labeling sequence provides simultaneous quantification of cerebral blood flow and arterial transit time and is feasible for pediatric patients.

Somatic SLC35A2 mosaicism correlates with clinical findings in epilepsy brain tissue.

OBJECTIVE: Many genetic studies of intractable epilepsy in pediatric patients primarily focus on inherited, constitutional genetic deficiencies identified in patient blood. Recently, studies have revealed somatic mosaicism associated with epilepsy in which genetic variants are present only in a subset of brain cells. We hypothesize that tissue-specific, somatic mosaicism represents an important genetic etiology in epilepsy and aim to discover somatic alterations in epilepsy-affected brain tissue. METHODS: We have pursued a research study to identify brain somatic mosaicism, using next-generation sequencing (NGS) technologies, in patients with treatment refractory epilepsy who have undergone surgical resection of affected brain tissue. RESULTS: We used an integrated combination of NGS techniques and conventional approaches (radiology, histopathology, and electrophysiology) to comprehensively characterize multiple brain regions from a single patient with intractable epilepsy. We present a 3-year-old male patient with West syndrome and intractable tonic seizures in whom we identified a pathogenic frameshift somatic variant in SLC35A2, present at a range of variant allele fractions (4.2%-19.5%) in 12 different brain tissues detected by targeted sequencing. The proportion of the SLC35A2 variant correlated with severity and location of neurophysiology and neuroimaging abnormalities for each tissue. CONCLUSIONS: Our findings support the importance of tissue-based sequencing and highlight a correlation in our patient between SLC35A2 variant allele fractions and the severity of epileptogenic phenotypes in different brain tissues obtained from a grid-based resection of clinically defined epileptogenic regions.

3D T1-weighted contrast-enhanced brain MRI in children using a fat-suppressed golden angle radial acquisition: an alternative to Cartesian inversion-recovery imaging.

BACKGROUND: T1-weighted post-contrast MRI is essential in brain protocols. We demonstrate the feasibility and utility of a 3D non-Cartesian radial acquisition in children. PURPOSE: To compare bulk motion artifacts, image quality, and lesion conspicuity in 3D T1-weighted post-contrast brain MRI between a new fat-suppressed radial gradient-echo and a traditional non-fat-suppressed inversion-recovery Cartesian gradient-echo sequence. MATERIAL AND METHODS: Images from 53 patients acquired at 3 Tesla were compared. Three radiologists rated the images in three categories, including the presence of bulk motion and whether it impacted diagnosis, whether one sequence was preferred over the other in overall image quality and conspicuity of vascular structures and lesions, and whether diagnosis was possible if only the new fat-suppressed radial acquisition was obtained. RESULTS: The Fleiss' kappa for inter-rater agreement was 0.67 for bulk motion and 0.54 for sequence preference. Of the 53 cases, 56% were identified to have significant motion on conventional imaging, while only 13% had motion artifacts on the radial acquisition (p < 0.05). There were no cases where motion was seen on the radial acquisition but not on conventional imaging. Both sequences were equally preferred in 87% of the cases. All radiologists agreed that the radial approach had lower gray-white matter contrast than the conventional inversion-recovery method, but preferred the former for making diagnosis in uncooperative patients. CONCLUSION: We demonstrate the potential utility of a fat-suppressed 3D T1-weighted post-contrast brain gradient-echo sequence in children. The technique is useful in non-sedate pediatric imaging due to its reduced sensitivity to bulk motion.

Multi-phase 3D arterial spin labeling brain MRI in assessing cerebral blood perfusion and arterial transit times in children at 3T.

BACKGROUND: 3D pseudocontinuous arterial spin labeling (pCASL) with a single post-labeling delay time is commonly used to measure cerebral blood flow (CBF). Multi-phase pCASL has been developed to simultaneously estimate CBF and arterial transit time (ATT). PURPOSE: To evaluate the clinical feasibility of multi-phase 3D pCASL in pediatric patients, and to compare the estimation of ATT and CBF via linear weighted-delay and traditional non-linear iterative curve-fitting routines. MATERIAL & METHODS: Forty patients (average age: 8.6 y, 5 d-22.4 y) referred for routine brain MRI underwent additional 5-7 min of pCASL scans at 3T using 5 PLDs between 300 and 2300 ms. Data were post-processed by two algorithms for estimating CBF and ATT. Average CBF and ATT values were computed for vascular territories including the anterior, middle and posterior cerebral arteries as well as regions based on the Alberta Stroke Program Early CT Score template. Pearson correlation coefficients and linear regression were used for statistical analysis. The clinical value of multi-phase CASL was evaluated by a neuroradiologist based on asymmetric CBF and ATT maps in patients. RESULTS: All pCASL scans were successfully completed, generating diagnostic results. CBF computed from weighted-delay and curve-fitting methods agreed strongly, with Pearson correlation coefficients ranging from 0.97-0.99 across the measured regions (p < 0.05). Correlation coefficients for ATT ranged from 0.87-0.96 (p < 0.05). CBF and ATT maps were found to add valuable information to clinical diagnosis in 17 of 40 pediatric patients. CONCLUSION: Our preliminary results demonstrate the feasibility and potential clinical utility of multi-phase pCASL for simultaneous CBF and ATT quantification in pediatric patients.

Germinoma Involving the Retina: An Unusual Presentation of Recurrent Intracranial Mixed Germ Cell Tumor.

BACKGROUND: We report a patient with primary central nervous system mixed malignant germ cell tumor (GCT) who presented with recurrent malignant germinomatous infiltration of the retina. CASE DESCRIPTION: A 10-year-old girl initially presented with a large suprasellar mixed malignant GCT with a near-complete response after initial induction of chemotherapy and irradiation. Three and a half years after initial therapy, she presented with progressively worsening vision in her left eye. Magnetic resonance imaging showed infiltrative changes within the left optic nerve but no discrete mass. Serum and cerebrospinal fluid tumor markers were not elevated and cerebrospinal fluid cytology was negative. Left optic nerve biopsy confirmed the presence of mature teratoma and pure germinoma components. She was treated with gross-total resection of the left eye and optic nerve and chemotherapy. Histopathologic evaluation of the optic nerve showed only mature teratoma elements, but with pure germinoma cells infiltrating the inner layers of the retina. CONCLUSIONS: Loco-regional extension of suprasellar GCT to the optic nerve is not uncommon; however, to the best of our knowledge, infiltration of the tumor into the retina is not reported in the literature. Early detection of optic pathway involvement and proper delineation of the irradiation field may prevent GCT infiltration of the retina with subsequent vision loss.

Isolated neurosarcoidosis presenting as headache and multiple brain and spinal cord lesions mimicking central nervous system metastases.

Sarcoidosis is uncommon in children. Although isolated neurosarcoidosis has been seen in 15% adults with sarcoidosis, pediatric neurosarcoidosis is rarely reported. Neurosarcoidosis may present with cranial neuropathy, including facial palsy, optic nerve or other cranial nerve involvement, peripheral neuropathy, or manifestations of the central nervous system affecting the hypothalamus, pituitary gland, cerebral cortex, cerebellum, meninges, and spinal cord. The useful diagnostic investigations include magnetic resonance imaging of the brain and spinal cord, cerebrospinal fluid studies, brain and meningeal biopsy if feasible, chest radiography to reveal sarcoidosis, angiotensin-converting enzyme level in the serum or cerebrospinal fluid, and Kveim test when available. We herein report a case of isolated brain biopsy-confirmed neurosarcoidosis in a 17-year-old boy presenting with severe unilateral headache and multiple brain and spinal cord MRI lesions mimicking central nervous system metastases.

Sporadic pediatric meningiomas: a neuroradiological and neuropathological study of 15 cases.

OBJECTIVE Sporadic meningiomas have been classified in many different ways. Radiographically, these lesions can be described as occurring in either typical or atypical locations. The purpose of this study was to determine if there are any histopathological differences between sporadic meningiomas that arise in these varying locations in children. METHODS The neuroimaging, histopathological findings, and clinical records in patients with sporadic pediatric meningiomas not associated with neurofibromatosis Type 2 or prior radiation therapy were retrospectively reviewed. Tumors were classified by radiological findings as either typical or atypical, and they were categorized histopathologically by using the latest WHO nomenclature and grading criteria. RESULTS Fifteen sporadic meningiomas in pediatric patients were biopsied or resected at the authors' institution between 1989 and 2013. Five (33%) were typical in radiographic appearance and/or location and 10 (67%) were atypical. Four (80%) typical meningiomas were WHO Grade I tumors. Most (60%) of the atypical meningiomas were WHO Grade II or III. CONCLUSIONS This study is the largest series of sporadic pediatric meningiomas in atypical locations to date. Although sporadic meningiomas are relatively infrequent in children, those with atypical imaging, specifically those with apparently intraparenchymal and intraosseous locations, may be more common than previously recognized. In this study, pediatric sporadic meningiomas arising in atypical locations, in particular intraparenchymal meningiomas, may be of higher histopathological grade. The authors' findings should alert clinicians to the potential for more aggressive clinical behavior in these tumors.

Neonatal Vein of Labbé Infarction Size is Associated With Long-Term Language Outcomes.

BACKGROUND: The vein of Labbé is a superficial cortical vein, which drains the lateral surface of the temporal lobe. Thrombosis of the vein of Labbé can occur in the neonatal period. The developmental outcomes of infants who had vein of Labbé thrombosis are unknown as few studies of outcomes exist. METHODS: We completed a retrospective review of infants born ≥34 weeks of gestation, diagnosed with vein of Labbé thrombosis, and/or infarction on neuroimaging during the first 30 days of life. Size of each temporal lobe infarction was estimated based on the number of temporal lobe segments involved. Primary outcomes were the presence of major neurodevelopmental impairments in childhood and Bayley scores at two years. RESULTS: Our cohort of 19 infants had a median gestational age of 38 weeks (interquartile range 36 to 39) and mean birth weight 2892 ± 920 grams. The most common presenting symptoms of vein of Labbé thrombosis and infarction of surrounding tissue were seizures, apnea, lethargy, and either hypertonia or hypotonia. At the latest clinical follow-up appointment documented in the electronic medical record (mean 4.4 ± 3.08 years), 44% had major neurodevelopmental impairment. Patients with large vein of Labbé infarctions had significantly worse average Bayley scores than those with small to moderate lesions, and differences in language composite were statistically significant (72.7 vs 107.8, P = 0.017). CONCLUSIONS: Neonates with large vein of Labbé infarctions are more likely to have poor language outcomes. This finding suggests a need for targeted surveillance to ensure early identification of deficits and referral for intervention.

Neuropathology Associated With Diffuse Excessive High Signal Intensity Abnormalities on Magnetic Resonance Imaging in Very Preterm Infants.

BACKGROUND: Diffuse excessive high signal intensity abnormality is the most common finding on term-equivalent age magnetic resonance imaging in extremely preterm infants. Yet its clinical significance remains a matter of debate, in part because of a lack of prior imaging-pathology correlational studies. PATIENT PRESENTATIONS: We present two 24-week-gestation infants with complicated clinical courses who died at 33 and 46 weeks postmenstrual age with magnetic resonance imaging evidence of diffuse excessive high signal intensity. Two patients with periventricular leukomalacia and two without injury were examined for comparison. Immunohistochemistry characterized the presence of reactive astrocytes, microglia, myelin, and axons. Infants with periventricular leukomalacia demonstrated the typical microscopic necrosis with spheroids, gliosis/microgliosis with reduction in stainable myelin and axons. Infants with diffuse excessive high signal intensity showed vacuolated regions with increased reactive astrocytes and microglia and fewer oligodendroglial cell bodies/processes and dramatic reduction in axon number. CONCLUSION: These two individuals with diffuse excessive high signal intensity exhibited pathologic characteristics that were overlapping but distinct from those of periventricular leukomalacia.

Utility of Neurodiagnostic Studies in the Diagnosis of Autoimmune Encephalitis in Children.

BACKGROUND: Autoimmune encephalitis is currently a clinical diagnosis without widely accepted diagnostic criteria, often leading to a delay in diagnosis. The utility of magnetic resonance imaging (MRI) and electroencephalography (EEG) in this disease is unknown. The objective of this study was to identify disease-specific patterns of neurodiagnostic studies (MRI and EEG) for autoimmune encephalitis in children. METHODS: We completed a retrospective chart review of encephalopathic patients seen at a large pediatric hospital over a four year interval. Clinical presentation, autoantibody status, and MRI and EEG findings were identified and compared. Individuals with autoantibodies were considered "definite" cases, whereas those without antibodies or those with only thyroperoxidase antibodies were characterized as "suspected." RESULTS: Eighteen patients met the inclusion criteria and autoantibodies were identified in nine of these. The patients with definite autoimmune encephalitis had MRI abnormalities within limbic structures, most notably the anteromedial temporal lobes (56%). Only individuals with suspected disease had nontemporal lobe cortical lesions. Sixteen patients had an EEG and 13 (81%) of these were abnormal. The most common findings were abnormal background rhythm (63%), generalized slowing (50%), focal slowing (43%), and focal epileptiform discharges (31%). Sleep spindle abnormalities occurred in 38% of patients. There were no specific differences in the EEG findings between the definite and suspected cases. Focal EEG findings only correlated with a focal lesion on MRI in a single definite case. CONCLUSIONS: Pediatric patients with definite autoimmune encephalitis have a narrow spectrum of MRI abnormalities. Conversely, EEG abnormalities are mostly nonspecific. All patients in our cohort had abnormalities on one or both of these neurodiagnostic studies.

Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.

BACKGROUND: Nuclear polymerase gamma (POLG) mutations are the most common cause of inherited mitochondrial disease. POLG mutation diseases have a broad spectrum of clinical manifestations; the lethal infantile form is myocerebrohepatopathy spectrum. PATIENT: A 4-month-old boy was referred for poor feeding, emesis, failure to thrive, and hypotonia. RESULTS: Brain computed tomography was normal. Brain magnetic resonance imaging with and without contrast demonstrated bilateral enhancement of cranial nerves III, V-X, and the upper and midcervical nerve roots. Liver biopsy revealed early cirrhosis, steatosis, and focal necrosis. Muscle biopsy did not demonstrate specific abnormalities of mitochondrial morphology or number. Electron transport chain analysis of both fibroblasts and muscle demonstrated deficiencies. Because of suspected mitochondrial depletion disorder, testing was performed for mitochondrial abnormalities including analysis of the POLG gene, which revealed two pathogenic mutations, c.1399G>A (p.A467T) and c.3285C>G (p.S1095R). CONCLUSIONS: We report abnormal gadolinium enhancement of multiple cranial nerves and cervical nerve roots in an infant with myocerebrohepatopathy spectrum disease whose brain MRI otherwise revealed only mild atrophy. Mitochondrial disease should be included in the differential diagnosis of cranial nerve enhancement. Contrast-enhanced MRI aids in the diagnostic evaluation of infants with developmental delay and suspected neurological disease.