Magnetic resonance spectroscopy in very preterm-born children at 4 years of age: developmental course from birth and outcomes.

PURPOSE: Brain metabolites show very rapid maturation over infancy, particularly following very preterm (VPT) birth, and can provide an index of brain injury. The utility of magnetic resonance imaging (MRS, magnetic resonance spectroscopy) in predicting outcome in VPT-born infants is largely limited to 2-year outcomes. We examined the value of MRS in VPT followed longitudinally to 4 years. METHODS: MRS datasets were acquired in 45 VPT infants (< 32 weeks gestational age) longitudinally: at birth, at term-equivalent and at 4 years of age. Using LCModel analyses in a basal ganglia voxel, we investigated metabolite ratios as a function of age, brain injury and outcome. We also studied a full-term (FT) cohort at 4 years and compared group differences with outcome. RESULTS: We found significant age-related changes in many brain metabolites in infancy, including phosphocreatine (CR)/phosphocholine (CHO), N-acetylaspartylglutamate (NAA)/CHO, myoinositol (INS)/CHO and INS/CR; there were no significant MRS differences between VPT and FT groups at 4 years of age, or differences at 4 years as a function of early brain injury or outcome. The rate of change in metabolite ratios from VPT birth to term-equivalent age did not predict outcome in the VPT children at 4 years. CONCLUSION: Brain metabolite ratios measured in VPT-born infants have shown associations with short-term outcomes, but these correlations did not extend to early childhood nor predict cognitive sequelae. The most frequently reported poor outcome in VPT-born children is cognitive difficulties starting at early school age. MRS metrics early in the infant's life do not appear to predict these longer-term outcomes.

White matter abnormalities in children with idiopathic developmental delay.

BACKGROUND: The underlying cause of developmental delay (DD) often remains unclear despite extensive clinical examination and investigations. Interference in normal development of the brain may result in DD. PURPOSE: To identify the prevalence of abnormalities on magnetic resonance (MR) imaging in idiopathic developmental delay. MATERIAL AND METHODS: Of the 124 children referred for MR imaging with DD, 34 were excluded due to known history of progressive neurodevelopmental disorders, birth asphyxia, congenital CNS infections, metabolic disorder, chromosomal anomalies, and severe epileptic syndromes. The following structures were systematically reviewed: ventricles, corpus callosum, gray and white matter, limbic system, basal ganglia, brainstem, and cerebellum. RESULTS: Ten out of 90 (11%) were referred with DD only, whilst 80/90 (89%) were referred with DD and additional clinical findings, such as seizures, neurological deficit, and abnormal head size. Of the 90 patients, 14 (16%) had normal MR and 76 (84%) had abnormal MR findings. Abnormal ventricles were seen in 43/90 (48%); abnormal corpus callosum was identified in 40/90 (44%). Other MR findings included abnormalities in the white matter (23/90, 26%), hippocampi (5/90, 6%), cerebellum (5/90, 6%), and brainstem (4/90, 4%). CONCLUSION: Abnormalities of the ventricles and corpus callosum were identified in a large proportion of patients with idiopathic DD, indicative of changes in the white matter. Further studies using quantitative methods and diffusion tensor imaging are required to evaluate the white matter in these children.

MRI Characteristics of Primary Tumors and Metastatic Lesions in Molecular Subgroups of Pediatric Medulloblastoma: A Single-Center Study.

BACKGROUND AND PURPOSE: Molecular grouping of medulloblastoma correlates with prognosis and supports the therapeutic strategy. We provide our experience with the imaging features of primary and metastatic disease in relation to the molecular groups. MATERIALS AND METHODS: One hundred nineteen consecutive patients (mean age, 7.3 ± 3.8 years at diagnosis; male, 79 [66.4%]) with a confirmed diagnosis of medulloblastoma and interpretable pretreatment MRIs were retrieved from our data base from January 2000 to December 2016. Each patient was assigned to wingless, sonic hedgehog, group 3, or group 4 molecular groups. Then, we determined the imaging features of both primary and metastatic/recurrent disease predictive of molecular groups. RESULTS: In addition to recently reported predictors based on primary tumor, including cerebellar peripheral location for sonic hedgehog (adjusted odds ratio = 9, P < .0001), minimal enhancement of primary group 4 tumor (adjusted odds ratio = 5.2, P < .0001), and cerebellopontine angle location for wingless (adjusted odds ratio = 1.4, P = .03), ependymal metastasis with diffusion restriction and minimal postcontrast enhancement ("mismatching pattern") (adjusted odds ratio = 2.8, P = .001) for group 4 and spinal metastasis for group 3 (adjusted odds ratio = 1.9, P = .01) also emerged as independent predictors of medulloblastoma molecular groups. Specifically, the presence of a metastasis in the third ventricular infundibular recess showing a mismatching pattern was significantly associated with group 4 (P = .02). CONCLUSIONS: In addition to imaging features of primary tumors, some imaging patterns of metastatic dissemination in medulloblastoma seem characteristic, perhaps even specific to certain groups. This finding could further help in differentiating molecular groups, specifically groups 3 and 4, when the characteristics of the primary tumor overlap.

Expanding the Distinctive Neuroimaging Phenotype of ACTA2 Mutations.

BACKGROUND AND PURPOSE: Arg179His mutations in ACTA2 are associated with a distinctive neurovascular phenotype characterized by a straight course of intracranial arteries, absent basal Moyamoya collaterals, dilation of the proximal internal carotid arteries, and occlusive disease of the terminal internal carotid arteries. We now add to the distinctive neuroimaging features in these patients by describing their unique constellation of brain malformative findings that could flag the diagnosis in cases in which targeted cerebrovascular imaging has not been performed. MATERIALS AND METHODS: Neuroimaging studies from 13 patients with heterozygous Arg179His mutations in ACTA2 and 1 patient with pathognomonic clinicoradiologic findings for ACTA2 mutation were retrospectively reviewed. The presence and localization of brain malformations and other abnormal brain MR imaging findings are reported. RESULTS: Characteristics bending and hypoplasia of the anterior corpus callosum, apparent absence of the anterior gyrus cinguli, and radial frontal gyration were present in 100% of the patients; flattening of the pons on the midline and multiple indentations in the lateral surface of the pons were demonstrated in 93% of the patients; and apparent "squeezing" of the cerebral peduncles in 85% of the patients. CONCLUSIONS: Because α-actin is not expressed in the brain parenchyma, only in vascular tissue, we speculate that rather than a true malformative process, these findings represent a deformation of the brain during development related to the mechanical interaction with rigid arteries during the embryogenesis.

2D time-of-flight MR venography in neonates: anatomy and pitfalls.

BACKGROUND AND PURPOSE: The dural venous sinuses in neonates differ from those in adults or older children in that the caliber of venous sinuses is smaller and there is skull molding. The aim of this retrospective study is to evaluate the presence of flow gaps in venous sinuses in neonates on 2D time-of-flight (TOF) MR venography (MRV). METHODS: Fifty-one neonates underwent coronal 2D TOF MRV. Nine also had CT venography (CTV) for comparison. In 1 neonate, a further 2D TOF MRV was performed in the sagittal plane; in another neonate, images were captured in the axial plane; and in another, a further coronal TOF MRV with shorter echo time was performed. RESULTS: Flow gap was seen in the posterior aspect of the superior sagittal sinus in 35 of 51 (69%). Focal narrowing of the superior sagittal sinus, in the region of convergence of lambdoid sutures, was detected in 7 of 51 (14%). The right and left transverse sinuses demonstrated flow gap in 13 of 51 (25%) and 32 of 51 (63%) respectively. There was normal filling of contrast on CTV in the superior sagittal sinus, transverse sinus and sigmoid sinus in those cases with flow gap detected on coronal 2D TOF MRV. Right, left, and codominance of the transverse sinuses are as follows: 32 of 51 (63%), 5 of 51 (10%), and 14 of 51 (27%), respectively. The right and left sigmoid sinuses demonstrated flow gap in 7 of 51 (14%) and 8 of 51 (16%), respectively, and the left sigmoid sinus was absent in 1 of 51 (2%). CONCLUSION: The high proportion of flow gap in the venous sinuses of neonates, particularly of the superior sagittal sinus, could be attributed to the smaller caliber venous sinuses, slower venous flow, and skull molding.

Neonatal transient hypophosphatemic hypercalciuric rickets in dizygous twins: A role for maternal alendronate therapy before pregnancy or antireflux medications?

BACKGROUND: Bisphosphonates (BP) are sometimes used in children and young women, but their use requires expertise and caution due to the relative lack of long-term efficacy and safety data. CLINICAL CASES: We report on two dizygotic male twins with a past of mild prematurity who presented at the age of 2 months with moderate clinical craniotabes, hypophosphatemia, normal circulating calcium, severe hypercalciuria, and low parathyroid hormone levels. Following supplementation with oral phosphorus and native vitamin D, the clinical and biological abnormalities disappeared within 2 months. Since the twins were dizygotic and were identical in terms of clinical presentation and progression, the only likely explanation for these transient mineral abnormalities was prenatal or neonatal exposure to a toxic agent. Taking into account their medical past, two drugs were possibly involved: either oral alendronate that their mother had received before pregnancy for misdiagnosed osteoporosis or antireflux medications, or both. DISCUSSION: We believe that these two cases could correspond to the first description of a potential mother-to-fetus transmission of alendronate, inducing early and transient hypophosphatemic rickets, the clinical picture being worsened by the antireflux drugs impairing intestinal phosphate absorption. For pediatric rheumatologists, this raises the question of more clearly defining the indications for BP in female children and teenagers; for rheumatologists, this also demonstrates the importance of correctly diagnosing osteoporosis and not using BP off-label, especially in women of child-bearing age.

Phase II study of cytarabine and etoposide in children with refractory or relapsed non-Hodgkin's lymphoma: a study of the French Society of Pediatric Oncology.

Twenty-five children or adolescents with relapsed or refractory non-Hodgkin's lymphoma (NHL) were included in this phase II study of the combination of cytarabine (ARA-C) 50 mg/m2/d by 12 hours continuous infusion day 1 to day 5, ARA-C 3 g/m2/d in 3 hours day 1 to day 4, and etoposide (VP 16) 200 mg/m2 daily from day 1 to day 4. Twelve patients had B-cell, 12 T-cell, and one non-T, non-B-cell lymphoma; according to Murphy's staging system, 15 had stage III and nine stage IV disease with bone marrow involvement at diagnosis. All had previously received ARA-C by push or continuous infusion. Two patients had received epipodophyllotoxins. At the time of the study, three children had initial refractory disease, 18 were in first relapse (14 on therapy), two in first refractory relapse, and two in second relapse (on therapy). The overall response rate (RR) was 60%: eight complete responses (CRs), seven partial responses (PRs) (two became CRs after a second course). The RR was 66% (four CRs plus four PRs) in B-cell and 54% (four CRs, three PRs) in non-B-cell NHL. It was 20% (one PR per five patients) in initial or relapsed refractory disease. In four patients with measurable CNS disease, there were three CRs. Duration of response was nonassessable since all the responding patients received high-dose polychemotherapy followed by autologous bone marrow transplantation (ABMT) (five are alive with long follow-up [FU]). Toxicity was marked mostly by pancytopenia for 2 weeks, and half the patients encountered a grade-3 infection. One severe diarrhea was observed. In conclusion, high-dose ARA-C (HD-ARA-C) and VP 16 are an effective regimen in relapsed NHL, especially with CNS disease, and its toxicity is acceptable with regards to the prognosis of the disease.

Disrupted Global and Regional Structural Networks and Subnetworks in Children with Localization-Related Epilepsy.

BACKGROUND AND PURPOSE: Structural connectivity has been thought to be a less sensitive measure of network changes relative to functional connectivity in children with localization-related epilepsy. The aims of this study were to investigate the structural networks in children with localization-related epilepsy and to assess the relation among structural connectivity, intelligence quotient, and clinical parameters. MATERIALS AND METHODS: Forty-five children with nonlesional localization-related epilepsy and 28 healthy controls underwent DTI. Global network (network strength, clustering coefficient, characteristic path length, global efficiency, and small-world parameters), regional network (nodal efficiency), and the network-based statistic were compared between patients and controls and correlated with intelligence quotient and clinical parameters. RESULTS: Patients showed disrupted global network connectivity relative to controls, including reduced network strength, increased characteristic path length and reduced global efficiency, and reduced nodal efficiency in the frontal, temporal, and occipital lobes. Connectivity in multiple subnetworks was reduced in patients, including the frontal-temporal, insula-temporal, temporal-temporal, frontal-occipital, and temporal-occipital lobes. The frontal lobe epilepsy subgroup demonstrated more areas with reduced nodal efficiency and more impaired subnetworks than the temporal lobe epilepsy subgroup. Network parameters were not significantly associated with intelligence quotient, age at seizure onset, or duration of epilepsy. CONCLUSIONS: We found disruption in global and regional networks and subnetworks in children with localization-related epilepsy. Regional efficiency and subnetworks were more impaired in frontal lobe epilepsy than in temporal lobe epilepsy. Future studies are needed to evaluate the implications of disrupted networks for surgical resection and outcomes for specific epileptogenic zones and the relation of disrupted networks to more complex cognitive function.

M4 protocol for cerebellar medulloblastoma: supratentorial radiotherapy may not be avoided.

The main goal of the M4 protocol was to evaluate the efficacy of treatment excluding supratentorial radiation in patients with newly diagnosed medulloblastoma. All patients underwent surgical resection and received postoperative chemotherapy. Chemotherapy was adapted to the initial staging and prognostic factors (Group A: good-risk; Group B: poor-risk). Chemotherapy was started early after surgery, and consisted of two courses of the "eight drug in one day" regimen and two courses of high dose methotrexate. Radiotherapy was delayed until 5 (Group B) to 7 (Group A) weeks after the first course of chemotherapy. Radiotherapy was administered only to the posterior fossa and the spinal axis. Only 3/16 patients (18%) are alive and disease-free with a mean follow up of 6 years. The site of progression was supratentorial in 9 out of 13 patients and three patients had spinal and/or cerebrospinal fluid relapses. Only one patient had isolated posterior fossa relapse. The mean time to relapse was 484 days. We conclude that the chemotherapy regimens used in the M4 protocol do not allow the reduction of irradiation fields in patients with cerebellar medulloblastoma. In spite of long-term side effects on neurocognitive functions, supratentorial radiotherapy should remain a major component of medulloblastoma treatment.

Detection of i(17q) chromosome by fluorescent in situ hybridization (FISH) with interphase nuclei in medulloblastoma.

Medulloblastomas are the most frequent primitive neurectodermal tumors in children. An isochromosome for the long arm of 17, i(17q), is found in 30% of medulloblastomas. For some authors, this abnormality is observed in cases with a shorter survival time. In our cytogenetic studies of 30 medulloblastomas, we observed i(17q) in only three cases, a monosomy 17 in two cases, a monosomy 22 in four cases, nonspecific numerical or structural abnormalities in five cases, and normal karyotypes in 12 cases. We compared the results of karyotypic analysis after culture and FISH with a chromosome 17 alpha satellite DNA probe on interphase nuclei in five cases of medulloblastoma. In one case, i(17q) was only observed in four cells in karyotypic analysis, in three cases a normal karyotype was found, and in one case karyotypic analysis was impossible. In all of these cases, i(17q) was observed in a great number of nuclei by FISH on interphase nuclei. Our study shows that the FISH on interphase nuclei permitted us to observe i(17q) in the cases where it was not or could not be completely detected by karyotypic analysis. The association of these two techniques is required to detect i(17q), an abnormality whose prognosis value in medulloblastomas is now recognized.

In vivo MR study of brain maturation in normal fetuses.

PURPOSE: To illustrate normal maturation of the fetal brain, including the migrational layer, gray matter, early myelination of internal capsules, optic radiations, and corona radiata. METHODS: Seventy-seven fetal brains, ranging from 21 to 38 weeks of gestational age, were examined with MR in vivo; 33 were considered normal. MR examinations were performed as T1-weighted sequences in the axial, sagittal, and coronal planes. The neuropathologic examination (four cases) and clinical and/or neuroradiologic examinations confirmed the antenatal data. RESULTS: From 21 to 25 weeks, the cerebral ventricles are large, corresponding to the relative fetal hydrocephalus. A slight high signal intensity can be observed in the basal ganglia as early as 21 weeks. In the cerebral hemispheres, a multilayered pattern that can be observed from 23 to 28 weeks includes the cortical ribbon, the germinal matrix, and an intermediate layer corresponding to the migrating glial cells. These findings are probably related to areas of increased cellularity. A high signal intensity can be seen within the dorsal part of the brain stem as early as 23 weeks, within the posterior limb of the internal capsules at 31 weeks, and within the central area of the cerebral hemispheres at 35 weeks. Those patterns are probably caused by the evolving process of myelination. CONCLUSIONS: MR allows depiction of signal changes corresponding either to an increase in cellularity or to the evolving processes of myelination, depending on the stage of the pregnancy.

Segmental spinal dysgenesis: neuroradiologic findings with clinical and embryologic correlation.

BACKGROUND AND PURPOSE: Segmental spinal dysgenesis (SSD) is a rare congenital abnormality in which a segment of the spine and spinal cord fails to develop properly. Our goal was to investigate the neuroradiologic features of this condition in order to correlate our findings with the degree of residual spinal cord function, and to provide insight into the embryologic origin of this disorder. We also aimed to clarify the relationship between SSD and other entities, such as multiple vertebral segmentation defects, congenital vertebral displacement, and caudal regression syndrome (CRS). METHODS: The records of patients treated at our institutions for congenital spinal anomalies were reviewed, and 10 cases were found to satisfy the inclusion criteria for SSD. Plain radiographs were available for review in all cases. MR imaging was performed in eight patients, one of whom also underwent conventional myelography. Two other patients underwent only conventional myelography. RESULTS: Segmental vertebral anomalies involved the thoracolumbar, lumbar, or lumbosacral spine. The spinal cord at the level of the abnormality was thinned or even indiscernible, and a bulky, low-lying cord segment was present caudad to the focal abnormality in most cases. Closed spinal dysraphisms were associated in five cases, and partial sacrococcygeal agenesis in three. Renal anomalies were detected in four cases, and dextrocardia in one; all patients had a neurogenic bladder. CONCLUSION: SSD is an autonomous entity with characteristic clinical and neuroradiologic features; however, SSD and CRS probably represent two faces of a single spectrum of segmental malformations of the spine and spinal cord. The neuroradiologic picture depends on the severity of the malformation and on its segmental level along the longitudinal embryonic axis. The severity of the morphologic derangement correlates with residual spinal cord function and with severity of the clinical deficit.

Correlative anatomic and CT study of the lumbar lateral recess.

The lumbosacral nerve roots and their relation to the lateral recess in the lumbar region were studied by computed tomography both in anatomic specimens from six cadavers and in vivo in 100 patients with or without disk herniation. The anatomic and tomodensitometric correlations are discussed. The normal morphology and contents of the lumbar spinal canal can be used as a guide to radiologic diagnostic exploration, which in turn can indicate the etiology and extent of lumbar sciatica and the course of treatment.

Surgical treatment of tentorial arteriovenous malformations draining into the subarachnoid space. Report of four cases.

Four patients with tentorial arteriovenous malformations (AVM's) were treated surgically. The operative findings in the first case suggested that clipping of the draining vein close to the AVM may result in complete cure. The three subsequent cases were treated with this technique. The clinical and radiological implications are discussed.

Neurologic onset of Behçet's disease: a diagnostic enigma in childhood.

Neuro-Behçet's disease, which is uncommonly reported in childhood, encompasses a wide variety of clinical features since any part of the neuraxis may be involved. It carries a serious prognosis and represents a leading cause of death or severe disability. Neuro-Behçet's disease may occur in 5% to 50% of adults with Behçet's disease and is usually subsequent to other systemic manifestations. In this report, we express the possibility of a primary neurologic presentation of Behçet's disease in childhood with pseudotumor cerebri and meningoencephalitis as exclusive initial features. We focus on diagnostic problems when major features of Behçet's disease are missing at the outset. We emphasize the high sensitivity of magnetic resonance imaging to make the diagnosis of cerebral vasculitis or thrombosis with a good reliability to clinical features.

Multicenter prospective study of children with sickle cell disease: radiographic and psychometric correlation.

After obtaining familial informed consent, between January 1996 and July 1997, 173 children (5 to 15 years old) with sickle cell disease were enrolled in a prospective multicenter study using blood screening, transcranial Doppler ultrasonography (n = 143), cerebral magnetic resonance imaging (n = 144), and neuropsychologic performance evaluation (n = 156) (Wechsler Intelligence tests WISC-III, WIPPSI-R), which were also performed in 76 sibling controls (5 to 15 years old). Among the 173 patients with sickle cell disease (155 homozygous for hemoglobin SS, 8 sickle cell beta0 thalassemia, 3 sickle cell beta+ thalassemia, 7 sickle cell hemoglobin C disease SC), 12 (6.9%) had a history of overt stroke, and the incidence of abnormal transcranial Doppler ultrasonography (defined as mean middle cerebral artery velocity > 200 cm/sec or absent) was 8.4% in the overall study population and 9.6% in patients with homozygous sickle cell anemia The silent stroke rate was 15%. Significantly impaired cognitive functioning was observed in sickle cell disease patients with a history of stroke (Performance IQ and Full Scale IQ), but also in patients with silent strokes (Similarities, Vocabulary, and Verbal Comprehension). However, infarcts on magnetic resonance imaging were not the only factors of cognitive deficit: Verbal IQ, Performance IQ, and Full Scale IQ were strongly impaired in patients with severe chronic anemia (hematocrit < or = 20%) and in those with thrombocytosis (platelets > 500 x 10(9)/L). Multivariate logistic regression analysis showed that abnormal magnetic resonance imaging (odds ratio [OR] = 2.76) (P = .047), hematocrit < or =20% (OR = 5.85) (P = .005), and platelets > 500 x 10(9)/L (OR = 3.99) (P = .004) were independent factors of cognitive deficiency (Full Scale IQ < 75) in sickle cell disease patients. The unfavorable effect of low hematocrit has already been suggested, but this is the first report concerning an effect of thrombocytosis and showing that silent stroke alone is not a factor of cognitive deficit when not associated with low hematocrit or thrombocytosis. The effect of hydroxyurea, which is known to increase hematocrit and decrease platelet count, on cognitive functioning of sickle cell patients should be evaluated prospectively.

The pitfall of silent neurosarcoidosis.

Sarcoidosis in childhood is seldom reported. Most cases are observed in older children and preadolescents as bilateral pulmonary disease and eye lesions. Arthritic features are more likely to be observed in infants and children younger than 4 years of age who do not develop pulmonary disease. Neurosarcoidosis is exceptional in this age group and seldom suspected when the neurologic symptoms are present. The authors report a pediatric patient with systemic sarcoidosis who developed a severe but silent neurologic involvement. Numerous masslike lesions were discovered on systematic cranial magnetic resonance imaging. The authors recommend a complete screening of extrapulmonary manifestations in children with sarcoidosis. The proper management of patients with incidentally discovered neurosarcoidosis has yet to be established.

Neuroimaging of epilepsy in children.

Epilepsy is, above all, a pediatric disease. The electroclinical expression of epilepsy depends on several factors, including the presence of a subjacent brain anomaly and the age of the child. Genetic, congenital, and perinatal disorders account for most of the cases. MR imaging should identify any abnormality of the brain, in order to understand the condition and, in selected cases, to be able to treat the patient surgically.

Fetal brain MR imaging.

In the past 10 years, improvements in MR imaging and faster imaging techniques have dramatically increased the use of in-utero fetal brain MR imaging. Challenging abnormalities now can be diagnosed prenatally through a careful analysis of morphology and signal changes. Using illustrations of normal brain development as a starting point, this article illustrates and discusses major brain malformations and specific morphologic changes, destructive lesions, and isolated ventriculomegalies, and the advantages and disadvantages of T1 and T2 sequences are provided.

Is it juvenile myoclonic epilepsy?

A 21-year old man with marked developmental delay was referred for the diagnosis of myoclonic jerks (MJ), which were sometimes responsible for sudden falls without loss of consciousness, that had begun 2 years before, and for a recent generalized tonic-clonic seizure preceded by a cluster of MJ. Physical examination revealed a small stature, bilateral pyramidal signs, severe mental retardation, and retinis pigmentosa. Etiological factors for this encephalopathy were not found (muscle and skin biopsies, karyotype and extensive blood chemistry). Waking interictal EEG showed a normal background activity and generalized poly-spike-and wave (PSW) discharges. Photic stimulation disclosed a marked photoparoxysmal response, sometimes associated with myoclonic jerks. Three spontaneous jerks accompanied by a burst of generalized PSW were recorded on awakening from a nap. The MRI disclosed wide ventricles, a thin corpus callosum, brainstem atrophy and a so-called "redundant gyration"; these changes were evocative of acquired perinatal damage. Juvenile myoclonic epilepsy (JME) was diagnosed and valproate was started resulting in complete control of seizures. During a 5-year follow-up, the patient has remained seizure-free and the EEG consistently normal. In our opinion, JME can be diagnosed in very uncommon settings, including patients with significant brain damage, as long as all the other criteria for the diagnosis are present.