Annals of the Child Neurology Society最新文献

{"title":"Clinical spectrum, etiology, and treatment response in neonatal autonomic seizures: A case series","authors":"Robin M. Litten,&nbsp;Amy L. Patterson,&nbsp;Amy L. McGregor,&nbsp;Basanagoud Mudigoudar,&nbsp;Nitish Chourasia","doi":"10.1002/cns3.20046","DOIUrl":"https://doi.org/10.1002/cns3.20046","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Neonatal autonomic signs such as apnea, cyanosis, pallor, and desaturation rarely occur as isolated ictal phenomena and require a high degree of clinical suspicion in combination with continuous video electroencephalogram (vEEG) to establish a diagnosis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We review the clinical profile, etiology, and treatment response in five neonates who presented with apnea as the primary seizure semiology.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Ictal apneic episodes were confirmed on continuous vEEG in all five infants within 24–48 h of symptom onset. Seizure etiologies included structural, infectious, and genetic, including a neonate with <i>ANKRD11</i>-associated KBG syndrome, in which ictal apnea has not been previously described. Acute seizures resolved in all neonates following treatment with a single or combination of antiseizure medications.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Abrupt onset and clustering episodes of apnea and oxygen desaturation in term infants should raise suspicion for epileptic seizures. Genetic testing should be considered as part of the diagnostic evaluation for autonomic seizures of unknown etiology. Early diagnosis and treatment of neonatal autonomic seizures may lead to excellent treatment response in the acute setting.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"1 4","pages":"312-319"},"PeriodicalIF":0.0,"publicationDate":"2023-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20046","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139041984","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Data-driven evidence shows truthful caregiver histories and significant overdiagnosis of abusive head trauma","authors":"Chris B. Brook","doi":"10.1002/cns3.20035","DOIUrl":"https://doi.org/10.1002/cns3.20035","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>We analyzed the veracity of caregiver-provided histories when infants present with intracranial pathologies and abusive head trauma (AHT) is suspected.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A comparison of medical findings is made using data from 335 infants with acute intracranial pathologies and no extracranial findings associated with abuse. Two null hypotheses were tested: (1) that cases where caregivers reported accidental trauma have similar medical findings to independently witnessed accidents; and (2) that cases where caregivers reported no trauma have similar medical findings as cases where caregivers reported accidental trauma.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The first null hypothesis is not rejected, corroborating caregiver histories of accidental trauma, yet such cases are diagnosed as AHT at significantly higher rates than accidents witnessed by unbiased independent observers. The second null hypothesis is rejected, corroborating caregiver histories that no trauma occurred.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Data suggest that caregivers can provide valuable diagnostic information when infants present with acute intracranial pathologies and suggest substantial rates of misdiagnosis of AHT.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"1 4","pages":"299-304"},"PeriodicalIF":0.0,"publicationDate":"2023-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20035","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139041963","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Quantitative EEG in the neonatal intensive care unit: Current application and future promise","authors":"Jennifer C. Keene,&nbsp;Giulia M. Benedetti,&nbsp;Stuart R. Tomko,&nbsp;Réjean M. Guerriero","doi":"10.1002/cns3.20042","DOIUrl":"10.1002/cns3.20042","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Importance</h3>\u0000 \u0000 <p>Quantitative electroencephalography (qEEG) has been used in the neonatal intensive care unit (NICU) for several decades. Recent innovations have led to renewed interest in expanding its role in the NICU with the goal of improving both acute care of neonates in the NICU and longer-term outcomes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Observations</h3>\u0000 \u0000 <p>EEG in the NICU is primarily used to identify neonatal seizures. Sophisticated analysis of EEG can detect other acute neurological emergencies and provide additional information about short- and long-term neurodevelopmental and epileptic prognosis. Using EEG for these additional findings may be limited by access to EEG resources and a constrained supply of neonatal neurophysiologists who can consistently evaluate unique neonatal EEG patterns.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Relevance</h3>\u0000 \u0000 <p>Quantitative EEG analysis is a rapidly developing technology with the potential to augment and support the interpretation of neonatal EEGs. This review focuses on the status of qEEG use in the NICU for identification and prediction of seizures and use in neuroprognostication. It also examines areas of promise for bedside qEEG applications.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"1 4","pages":"289-298"},"PeriodicalIF":0.0,"publicationDate":"2023-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20042","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135242221","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The parieto-occipital groove is a fissure, not a sulcus: Relevance to prenatal ultrasonographic imaging","authors":"Harvey B. Sarnat,&nbsp;Ian Suchet","doi":"10.1002/cns3.20044","DOIUrl":"10.1002/cns3.20044","url":null,"abstract":"<p>Both fissures and sulci are permanent indentations, grooves, or foldings of the cerebral cortex. They are distinguished in large part by timing: fissures form in the first half of gestation and sulci in the second half. A notable exception is the <i>sulcus limitans</i>, a shallow longitudinal groove in the horizontal axis of the embryonic neural tube that extends throughout the spinal cord and brainstem to the mesencephalon and rostrally into the wall of the third ventricle. It is most evident in the lateral wall of the fetal spinal central canal, cerebral aqueduct, and third ventricle and demarcates alar and basal plates of primordial gray matter to denote the separation of dorsal and ventral horns in the spinal cord and sensory and motor cranial nuclei in the brainstem. Other small embryonic grooves, such as the one that demarcates the lateral from the medial ganglionic eminences, also were called <i>sulci</i>, having been named from antiquity to the late 19th century. All sulci in the embryonic brain are transitory, unlike the permanent sulci of the cerebral cortex or interfolial sulci of the cerebellar cortex.</p><p>The earliest true fissure to form is the <i>interhemispheric fissure</i>, secondary to cleavage of the prosencephalon at four to five weeks' gestational age (GA); the last fissure to form is the <i>lateral cerebral (sylvian) fissure</i> because of bending of the <i>telencephalic flexure</i>, the primitive telencephalic hemisphere in which the caudal end of the early telencephalon becomes not the occipital pole but rather the rostral pole of the temporal lobe.<span>¹</span> Examples of intermediately timed fissures are the hippocampal and calcarine. Another distinction is that fissures result mainly from external mechanical or physical forces, whereas sulci principally form because of intrinsic growth.<span>¹</span> Convolutions are needed so that the cerebrum at term and the fetal head at birth are not so large as to pose an intrapartum traumatic risk to both fetus and mother, which also would be conducive to survival of the species. Small mammals, such as rodents and lagomorphs, have smooth nonconvoluted brains even at maturity because the number of cortical neurons is not enough to require folding; an interhemispheric fissure forms in mice, rats, squirrels, and rabbits, but a lateral cerebral fissure does not develop.<span>²</span> In humans and other large mammals, the sequence of gyral and sulcal formation follows a time-linked predictable program leading to precise gyral identification at each gestational age of the late second and third trimesters and in the mature brain.<span>³</span> Cortical sulcation not only enables a larger surface area without a concomitant increase in cerebral volume but also provides for intracerebral connectivity conducive to more complex synaptic circuitry.<span>⁴</span></p><p>The development of fissures and sulci often is altered in many m","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"1 4","pages":"269-272"},"PeriodicalIF":0.0,"publicationDate":"2023-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20044","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134908974","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Atonic-BECTS: An unusual presentation of self-limited epilepsy in childhood","authors":"Varun Sampat,&nbsp;Avantika Singh,&nbsp;Hema Patel","doi":"10.1002/cns3.20043","DOIUrl":"10.1002/cns3.20043","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>We describe an unusual patient with self-limited epilepsy in childhood to aid in the accurate diagnosis and timely treatment of an atonic variant of self-limited focal epilepsy of childhood with centrotemporal spikes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We reviewed the medical records documenting the clinical presentation, diagnostic evaluation, and treatment. We also reviewed the relevant video electroencephalograms (EEGs).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Patient Description</h3>\u0000 \u0000 <p>This 3-year-old girl with self-limited focal epilepsy of childhood (formerly called benign rolandic epilepsy) began having recurrent falls. Multiple clinical seizures were recorded on video EEG. The video documented generalized loss of tone resulting in falls, while the ictal EEG revealed one-second paroxysms of 4 Hz spike-slow-wave discharges in the left centrotemporal region, followed by a brief generalized electrodecrement for 400 milliseconds. These findings support the diagnosis of an atypical variant of benign epilepsy with centrotemporal spikes (BECTS), known as atonic-BECTS. Valproic acid was maximized. On follow-up, the patient was seizure-free with a normal EEG and normal development.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>Few prior publications describe atonic-BECTS. We present a child with atonic-BECTS whose ictal video EEG confirms atonic seizures. While atonic seizures typically occur with generalized epilepsies, our report highlights that they can present as an atypical manifestation of self-limited focal epilepsy in childhood.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"1 4","pages":"320-323"},"PeriodicalIF":0.0,"publicationDate":"2023-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20043","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134909582","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Congenital myasthenic syndrome type 2C in a neonate: Redefining the phenotype of CHRNB1-related myasthenic syndromes","authors":"Zurisadai Gonzalez,&nbsp;Simon Kayyal,&nbsp;Neda Zadeh,&nbsp;Julian Thomas","doi":"10.1002/cns3.20045","DOIUrl":"10.1002/cns3.20045","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>We present a neonate with generalized weakness due to autosomal recessive congenital myasthenic syndrome type 2C (CMS2C) resulting from a compound heterozygous mutation in the <i>CHRNB1</i> gene.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Patient description</h3>\u0000 \u0000 <p>Our patient was determined by multiple methodologies to have a diagnosis of CMS2C (OMIM #616314). Whole-genome sequencing revealed two distinct variants in the <i>CHRNB1</i> gene (OMIM *100710): a maternally inherited 2 kb pathogenic microdeletion on chromosome 17p13.1 and a paternally inherited intronic deletion (c.1218-9_1218-7) that was reported by the laboratory as a variant of unknown significance.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>CMS2C is a rare autosomal recessive genetic condition associated with early-onset muscle weakness. Our patient had a paternally inherited deletion in <i>CHRNB1</i> (c.1218-9_1218-7) that was initially described as a variant of unknown significance. We suggest this finding is “likely pathogenic,” as this aberration has not been commonly described. He also had a partial deletion of <i>CHRNB1</i> in the maternally inherited allele, which provides further evidence that partial gene deletions may be a more common molecular mechanism than previously known for this condition. The combination of the clinical presentation and electrophysiologic data allowed us to understand the molecular findings and ultimately diagnose CMS2C in our patient.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"1 4","pages":"324-326"},"PeriodicalIF":0.0,"publicationDate":"2023-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20045","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134909374","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Muscle channelopathies: A review","authors":"Bridget R. McGowan,&nbsp;Abigail N. Schwaede,&nbsp;Lenika De Simone,&nbsp;Vamshi K. Rao","doi":"10.1002/cns3.20040","DOIUrl":"10.1002/cns3.20040","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Muscle channelopathies are a rare and heterogeneous group of disorders that can be clinically challenging and functionally disabling. These disorders can present in both adult and pediatric age groups. These disorders have been known since the turn of the 20th century, with a steady evolution in terms of understanding the pathophysiology, phenotype, diagnostic, and treatment modalities over the last three decades.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We present a comprehensive review of muscle channelopathies that includes nondystrophic myotonias and periodic paralyses. The disorders in this review have been classified based on the presence or absence of myotonia on either the clinical exam or on electrophysiological testing. The historical background, genetics, pathophysiology, phenotypic presentations, and treatment modalities of each disorder reveal similarities as well as specific nuances in the disease phenotypes. Neurophysiologic testing shows differences in responses on routine and exercise testing and can narrow the differential within subsets of nondystrophic myotonias and periodic paralyses. The advances in genetics further aid in specifying which of the putative channels are at fault. Management can then be guided by knowledge of the causative gene and involves either avoidance of triggers or channel-based therapeutics.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Muscle channelopathies are rare, but a high index of suspicion along with a knowledge of the phenotype will help guide neurophysiological and genetic testing. A muscle channelopathy diagnosis, subsequently, can assist in avoiding triggers and directing treatments.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"1 4","pages":"273-288"},"PeriodicalIF":0.0,"publicationDate":"2023-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20040","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136359826","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"“Fifth-day fits” revisited: A literature review of benign idiopathic neonatal seizures and comparison with KCNQ2- and KCNQ3-associated benign familial epilepsy syndromes","authors":"Varun Kannan,&nbsp;Aishwarya V. Pareek,&nbsp;Abhijit R. Das,&nbsp;Charles T. Gay,&nbsp;James J. Riviello Jr.","doi":"10.1002/cns3.20039","DOIUrl":"https://doi.org/10.1002/cns3.20039","url":null,"abstract":"<p>Benign idiopathic neonatal seizures (BINS), colloquially referred to as the “fifth-day fits,” is a clinical neonatal epilepsy syndrome associated with early, spontaneous resolution of seizures and favorable developmental outcome. Although this disease entity was first described over four decades ago, the etiopathogenesis remains unknown, and it is unclear if the syndrome represents a single, cohesive disorder or a common manifestation of various unrelated neonatal neurological disturbances. As such, there are no standardized approaches to diagnostic workup and management. Benign familial neonatal seizures (BFNS) is a well-characterized genetic syndrome associated with <i>KCNQ2</i> and <i>KCNQ3</i> pathogenic variants, which also manifests clinically with self-resolving seizures in the neonatal period. While it remains unclear if there is any shared pathogenesis between these two disorders, the exceedingly similar phenotypic presentations and natural history raise the question of whether consensus management approaches used in genetic BFNS can also be applied to BINS. Here, we present a topical and historical review of BINS and BFNS literature and propose specific treatment recommendations based on extrapolation of limited existing clinical data.</p>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"1 3","pages":"202-208"},"PeriodicalIF":0.0,"publicationDate":"2023-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20039","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"50130899","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Distribution of hand function by age in individuals with Rett syndrome","authors":"Jeffrey L. Neul,&nbsp;Tim A. Benke,&nbsp;Eric D. Marsh,&nbsp;Jane B. Lane,&nbsp;David N. Lieberman,&nbsp;Steven A. Skinner,&nbsp;Daniel G. Glaze,&nbsp;Bernhard Suter,&nbsp;Peter T. Heydemann,&nbsp;Arthur A. Beisang,&nbsp;Shannon M. Standridge,&nbsp;Robin C. C. Ryther,&nbsp;Richard H. Haas,&nbsp;Lloyd J. Edwards,&nbsp;Amitha Ananth,&nbsp;Alan K. Percy","doi":"10.1002/cns3.20038","DOIUrl":"https://doi.org/10.1002/cns3.20038","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>We aimed to determine the longitudinal distribution of hand function skills in individuals with classic Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder, and correlate with <i>MECP2</i> variants.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>We conducted a longitudinal study of 946 girls and young women with typical RTT seen between 2006 and 2021 in the US Natural History Study (NHS) featuring a structured clinical evaluation to assess the level of hand function skills. The specific focus of this study was to assess longitudinal variation of hand skills from age 2 through age 18 years in relation to specific <i>MECP2</i> variant groups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Following the initial regression period, hand function continues to decline across the age spectrum in individuals with RTT. Specific differences are noted with steeper declines in hand function among those with milder variants (Group A: R133C, R294X, R306C, and C-terminal truncations) compared with groups composed of individuals with more severe variants.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>These temporal variations in hand use represent specific considerations that could influence the design of clinical trials that test therapies aiming to ameliorate specific functional limitations in individuals with RTT. Furthermore, the distinct impact of specific <i>MECP2</i> variants on clinical severity, especially related to hand use, should be considered in such interventional trials.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"1 3","pages":"228-238"},"PeriodicalIF":0.0,"publicationDate":"2023-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20038","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"50130898","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A three-year-old girl with subacute encephalopathy, myoclonus, and regression","authors":"Shermila Pia,&nbsp;Ryan Carrier,&nbsp;David Bearden","doi":"10.1002/cns3.20037","DOIUrl":"10.1002/cns3.20037","url":null,"abstract":"<p>This previously healthy three-year-old girl presented with two months of developmental regression, progressive fatigue, and jerking movements in the setting of failure to thrive and macrocytic anemia. She previously spoke in full sentences but began using only one-to-two-word phrases. She would collapse after walking short distances or going up stairs. Examination revealed lethargy, irritability, myoclonic jerks of trunk and limbs, diffuse hyperreflexia with clonus, and wide-based unsteady gait. Labs showed vitamin B₁₂ &lt; 200 pg/mL (lowest reportable), methylmalonic acid 14 μmol/L (ref. 0.0–0.4 μmol/L), homocysteine 224 μmol/L (ref. 0–15 μmol/L), and mean corpuscular volume 110 (ref. 76–87 fL). Magnetic resonance imaging revealed no brain abnormalities, but spinal imaging showed extensive T2 hyperintensity of the dorsal columns (Figure 1). She was diagnosed with spinal cord degeneration secondary to vitamin B₁₂ deficiency. Parenteral B₁₂ supplementation led to rapid clinical improvement. However, without continued parenteral supplementation, she had declining B₁₂ levels and is undergoing further investigation for a malabsorptive or genetic-metabolic etiology.</p><p>Cobalamin, or vitamin B₁₂, is important in myelin metabolism and brain development. Pediatric B₁₂ deficiency is most commonly due to nutritional insufficiency, malabsorption, or more rarely, genetic-metabolic syndromes.<span>^1-3</span> Infants and toddlers often present with developmental regression, lethargy, hypotonia, and abnormal movements such as myoclonus or chorea.<span>^{1, 4}</span> Spinal cord degeneration secondary to B₁₂ deficiency is exceedingly rare in children in developed countries.<span>^{1, 2}</span> In terms of treatment, oral B₁₂ replacement is sufficient in cases of nutritional deficiency. Malabsorptive or genetic-metabolic etiologies, on the other hand, are likely to require ongoing parenteral supplementation.<span>³</span> Prognosis is dependent on age of onset and duration of uncorrected B₁₂ deficiency.<span>¹</span></p><p><b>Shermila Pia</b>: Conceptualization; investigation; writing—original draft. <b>Ryan Carrier</b>: Writing—review &amp; editing. <b>David Bearden</b>: Supervision; writing—review &amp; editing.</p><p>DB is an associate editor for <i>Annals of the Child Neurology Society</i>. SP and RC declare no conflicts of interest.</p>","PeriodicalId":72232,"journal":{"name":"Annals of the Child Neurology Society","volume":"1 3","pages":"254-255"},"PeriodicalIF":0.0,"publicationDate":"2023-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cns3.20037","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45389838","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}