Journal of Child Neurology最新文献

We describe a series of 7 toddler-aged children with iron deficiency anemia from excessive cow's milk consumption who presented with cerebral venous sinus thrombosis and no other identifiable risk factors for thrombosis. The deep venous system was involved in 6 patients, 6 had venous infarcts, and 5 have significant neurocognitive sequelae.

Selection of targets for deep brain stimulation (DBS) has been based on clinical experience, but inconsistent and unpredictable outcomes have limited its use in patients with heterogeneous or rare disorders. In this large case series, a novel staged procedure for neurophysiological assessment from 8 to 12 temporary depth electrodes is used to select targets for neuromodulation that are tailored to each patient's functional needs. Thirty children and young adults underwent deep brain stimulation target evaluation with the new procedure: Stereotactic Awake Basal ganglia Electrophysiological Recording and Stimulation (SABERS). Testing is performed in an inpatient neuromodulation monitoring unit over 5-7 days, and results guide the decision to proceed and the choice of targets for permanent deep brain stimulation implantation. Results were evaluated 3-6 months postoperatively with the Burke-Fahn-Marsden Dystonia Rating Scale and the Barry-Albright Dystonia Scale. Stereotactic Awake Basal ganglia Electrophysiological Recording and Stimulation testing allowed modulation to be tailored to specific neurologic deficits in a heterogeneous population, including subjects with primary dystonia, secondary dystonia, and Tourette syndrome. All but one subject were implanted with 4 permanent deep brain stimulation leads. Results showed significant improvement on both scales at postoperative follow-up. No significant adverse events occurred. Use of the Stereotactic Awake Basal ganglia Electrophysiological Recording and Stimulation protocol with evaluation in the neuromodulation monitoring unit is feasible and results in significant patient benefit compared with previously published results in these populations. This new technique supports a significant expansion of functional neurosurgery to predict effective stimulation targets in a wide range of disorders of brain function, including those for which the optimal target is not yet known.

Background: Current criteria help differentiate cluster headache from migraine. However, children may have overlapping features making it difficult to distinguish the 2 conditions, which may delay diagnosis. Differentiating cluster headache from migraine is important regarding treatment as well as diagnostic workup of secondary headache etiologies.

Methods: Cases at a single pediatric children's hospital from 2015 to 2023 diagnosed with cluster headache before the age of 18 years were reviewed.

Results: Twenty-five cases were identified of which 22 cases met criteria for either chronic, episodic, or probable cluster headache. Three cases were diagnosed with cluster headache by their provider, but documentation was insufficient to meet criteria for cluster headache. There were 16 females and 9 males between ages 6 and 17 years. Five cases were identified as symptomatic, 2 cases as chronic, 7 cases as episodic, and 13 cases as probable cluster headache. Symptomatic etiologies include Graves disease, optic neuritis, prolactinoma, hypothalamic pilocytic astrocytoma with carotid stenosis, and congenital right eye blindness. Migrainous features were common, including 76% with nausea, 36% with vomiting, 68% with photophobia, and 56% with phonophobia. Patients with cluster headache also had an independent diagnosis of migraine in 64%.

Conclusion: Children with cluster headache have a high frequency of migrainous symptoms and co-occurrent diagnosis of migraine. A careful history may differentiate cluster headache from migraine and treated accordingly. Children with cluster headache features should undergo screening for secondary causes with appropriate imaging and other studies. Except for prolactinoma, the symptomatic associations noted in this case series have not been reported before.

Childhood disintegrative disorder is a poorly understood neurobehavioral disorder of early childhood characterized by acute to subacute profound regression in previously developed language, social behavior, and adaptive functions. The etiology of childhood disintegrative disorder remains unknown and treatment is focused on symptomatic management. Interest in neuroinflammatory mechanisms has grown with the increased recognition of autoimmune brain diseases and similarities between the presenting symptoms of childhood disintegrative disorder and pediatric autoimmune encephalitis. Importantly, a diagnosis of pediatric autoimmune encephalitis requires evidence of inflammation on paraclinical testing, which is absent in childhood disintegrative disorder. Here we report 5 children with childhood disintegrative disorder who were initially diagnosed with possible autoimmune encephalitis and treated with immunotherapy. Two children had provocative improvements, whereas 3 did not change significantly on immunotherapy. Additionally, a sixth patient with childhood disintegrative disorder evaluated in our Autoimmune Brain Disease Clinic showed spontaneous improvement and is included to highlight the variable natural history of childhood disintegrative disorder that may mimic treatment responsiveness.

Objective: To determine influence of sevoflurane on changes in cerebrospinal fluid pressure in children presenting for lumbar puncture. Methods: Cerebrospinal fluid pressure, end tidal carbon dioxide, and end tidal sevoflurane concentration measurements were obtained at 2-minute intervals for a total of 10 minutes (T0 to T5). Because of concerns regarding patient safety and comfort, the study measurements were completed at the end of the lumbar procedure, starting with the closing pressure and when sevoflurane was stopped. Results: As end tidal sevoflurane concentration decreased, cerebrospinal fluid pressure initially increased up to T2 before decreasing back to around the initial point. There was no significant correlation between sevoflurane level and cerebrospinal fluid pressure. Both weight status and presence or absence of optic edema did not have a significant impact on pressure over time. However, there was a statistically significant difference in the cerebrospinal fluid pressure over time between those with spontaneous respirations compared to those without. Conclusions: There was no significant correlation between the end tidal sevoflurane concentration and cerebrospinal fluid pressure. Assisted ventilation did produce a statistically significant increase in cerebrospinal fluid pressure and suggests that the most accurate measurements are in those with spontaneous respirations.

Objective: To determine the ages at acquisition of developmental milestones, loss of motor function, and clinical symptoms in Alexander disease. Methods: Patients with confirmed cerebral Alexander disease were included. Data abstraction of developmental and disease-specific milestones was performed from medical records, physical exams, and questionnaires. Mixed effects logistic regression was used to determine if key clinical features were associated with milestone achievement, controlling for patient age. Results: 51 patients with cerebral/infantile Alexander disease were evaluated at a mean age of 10.96 years (range 2.29-31.08 years). Developmental milestones in Alexander disease were often achieved but delayed. Ambulation was achieved in 44 subjects (86%); 34 (67%) subjects walked independently (mean age 1.9 years, range 0.91-3.25 years) and an additional 10 (20%) subjects walked with assistance (mean age 3.9 years, range 1.8-8 years) but did not progress to independent ambulation. Developmental delay was the earliest and most prevalent symptom (N = 48 [94%], mean age 0.58 years), compared to an initial seizure (N = 41 [80%], mean age 2.80 years), and macrocephaly (N = 28 [55%], mean age 4.04 years), P < .0001 between these ages of onset. Loss of independent ambulation occurred in 11 of the 34 (32%) children who had acquired ambulation (range 3.41-15.10 years). Presence of seizures or macrocephaly did not predict the achievement or loss of ambulation. Conclusions: The clinical triad of developmental delay, seizures, and macrocephaly are not universally present in cerebral Alexander disease. Clinicians should have a high index of suspicion for Alexander disease in patients with mild delays and a first seizure.

Background: Phelan-McDermid syndrome is a genetic disorder caused by haploinsufficiency of the SHANK3 gene on chromosome 22q13.3 and is characterized by autism spectrum disorder, intellectual disability, speech and language abnormalities, hypotonia, and mild dysmorphic features. Early literature in Phelan-McDermid syndrome did not include gait abnormalities as part of the syndrome although recent prospective studies report that the prevalence of gait abnormalities ranges from 55% to 94%. We compared gait abnormalities in individuals with Phelan-McDermid syndrome, idiopathic autism spectrum disorder, and typically developing controls, and explored associations between gait abnormalities, autism spectrum disorder, and intellectual functioning. Method: The study cohort consists of 67 participants between the ages of 3 and 18 years, divided into 3 groups: Phelan-McDermid syndrome (n  =  46), idiopathic autism spectrum disorder (n  =  11), and typically developing controls (n  =  10). Gait was recorded using a video camera and scored across 26 gait features using a "Gait Clinical Observations scale" designed specifically for this study. Results: Gait abnormalities were significantly higher in the Phelan-McDermid syndrome group as compared to idiopathic autism spectrum disorder or typically developing controls. The number of gait abnormalities across groups was also significantly correlated with Intellectual Quotient/Developmental Quotient (IQ/DQ). In analysis of covariance including IQ/DQ, the effect of group was not significant, but the effect of IQ/DQ was significant. Conclusions: Overall differences in gait abnormalities were determined by the degree of intellectual disability, which was significantly higher in Phelan-McDermid syndrome.

Introduction: We describe 5 children with GFAP astrocytopathy with the goal of further characterizing this rare form of meningoencephalomyelitis. Methods: Retrospective chart review of patients diagnosed with GFAP astrocytopathy between 2019 and 2021. Results: Patients were 8-17 years old, and all were male. Fever, headache, and vomiting were common presenting symptoms, and weakness, tremor, and ataxia were common initial examination findings. Initial magnetic resonance imaging (MRI) showed spinal cord abnormalities in 2 patients and leptomeningeal enhancement in 1. Most patients had cerebral spinal fluid pleocytosis, and all screened negative for malignancy. Three patients progressed to coma, and all were treated with immunosuppressant therapy. By discharge, all patients had improved over their clinical nadir, although none had returned to baseline. Discussion: GFAP astrocytopathy is a recently recognized cause of meningoencephalomyelitis in children. Here, we expand our understanding of this entity with the goal of aiding those treating children with GFAP astrocytopathy.

Lyme disease is the most common vector-borne disease in the United States and has been associated with secondary intracranial hypertension. We reviewed 11 pediatric patients with Lyme-associated secondary intracranial hypertension. All patients presented with headache, ten had papilledema, 7 with a rash, and 5 with a cranial nerve palsy. All patients were treated with acetazolamide, and 3 received combination therapy with furosemide. Three patients were considered to have fulminant intracranial hypertension because of the severity in their presenting courses. Two of the fulminant intracranial hypertension patients were treated with a temporary lumbar drain in addition to medications, whereas 1 fulminant intracranial hypertension patient was treated exclusively with medical therapy alone. The addition of a lumbar drain decreased the time to resolution of papilledema compared to medical management alone. Final visual acuity was 20/20 in each eye of all patients, suggesting that a titrated approach to therapy depending on the severity of presentation can result in good visual outcomes in these cases. Additionally, symptoms can recur after medication wean, so patients should be monitored closely with any discontinuation of intracranial pressure lowering medications.

Youth who identify as transgender and gender nonconforming (TGNC) are at increased risk of anxiety, depression, bullying, and loss of social and family support. These factors may increase the risk of developing functional neurologic disorder (FND). If the risk of FND is increased in TGNC youth, then identifying which youth are at increased risk, and the particular times when risk is increased, may allow for earlier diagnosis and treatment of FND. Better awareness of functional symptoms among clinicians who care for TGNC youth may prevent disruption of gender-affirming care if FND symptoms emerge. Patients diagnosed with FND who are TGNC may require different forms of intervention than other youth with FND. We present 4 cases from our multidisciplinary pediatric FND program of TGNC youth who developed FND. In all individuals for whom follow-up information was available, access to gender-affirming health care was associated with marked improvement or resolution of FND symptoms.