scholarly journals Early and lethal neurodegeneration with myasthenic and myopathic features

Neurology ◽  
2017 ◽  
Vol 89 (7) ◽  
pp. 657-664 ◽  
Author(s):  
David C. Schorling ◽  
Simone Rost ◽  
Dirk J. Lefeber ◽  
Lauren Brady ◽  
Clemens R. Müller ◽  
...  
Keyword(s):  
Refractory Epilepsy ◽  
Clinical Phenotype ◽  
Cerebral Atrophy ◽  
First Year ◽  
Genetic Syndrome ◽  
Electrophysiologic Testing ◽  
Whole Exome ◽  
Heterozygous Carriers ◽  
First Year Of Life

Objective:To describe the presentation and identify the cause of a new clinical phenotype, characterized by early severe neurodegeneration with myopathic and myasthenic features.Methods:This case study of 5 patients from 3 families includes clinical phenotype, serial MRI, electrophysiologic testing, muscle biopsy, and full autopsy. Genetic workup included whole exome sequencing and segregation analysis of the likely causal mutation.Results:All 5 patients showed severe muscular hypotonia, progressive cerebral atrophy, and therapy-refractory epilepsy. Three patients had congenital contractures. All patients died during their first year of life. In 2 of our patients, electrophysiologic testing showed abnormal decrement, but treatment with pyridostigmine led only to temporary improvement. Causative mutations in ALG14 were identified in all patients. The mutation c.220 G>A (p.Asp74Asn) was homozygous in 2 patients and heterozygous in the other 3 patients. Additional heterozygous mutations were c.422T>G (p.Val141Gly) and c.326G>A (p.Arg109Gln). In all cases, parents were found to be heterozygous carriers. None of the identified variants has been described previously.Conclusions:We report a genetic syndrome combining myasthenic features and severe neurodegeneration with therapy-refractory epilepsy. The underlying cause is a glycosylation defect due to mutations in ALG14. These cases broaden the phenotypic spectrum associated with ALG14 congenital disorders of glycosylation as previously only isolated myasthenia has been described.

scholarly journals Young children with Noonan syndrome: evaluation of feeding problems

2020 ◽  
Vol 179 (11) ◽  
pp. 1683-1688
Author(s):  
Jos M. T. Draaisma ◽  
Joris Drossaers ◽  
Lenie van den Engel-Hoek ◽  
Erika Leenders ◽  
Joyce Geelen
Keyword(s):  
Young Children ◽  
Noonan Syndrome ◽  
Early Onset ◽  
Late Onset ◽  
Tube Feeding ◽  
Genetic Mutation ◽  
First Year ◽  
Feeding Problems ◽  
Genetic Syndrome ◽  
First Year Of Life

Abstract Noonan syndrome (NS) is a common genetic syndrome with a high variety in phenotype. Even though genetic testing is possible, NS is still a clinical diagnosis. Feeding problems are often present in infancy. We investigated the feeding status of 108 patients with clinically and genetically confirmed NS. Only patients with a documented feeding status before the age of 6 were included. A distinction was made between patients with early onset feeding problems (< 1 year) and children with late onset feeding problems (> 1 year). Seventy-one of 108 patients had feeding problems, of which 40 patients required tube feeding. Children with a genetic mutation other than PTPN11 and SOS1 had significantly more feeding problems in the first year. Fifty-two of all 108 patients experienced early onset feeding problems, of which 33 required tube feeding. A strong decrease in prevalence of feeding problems was found after the first year of life. Fifteen children developed feeding problems later in life, of which 7 required tube feeding. Conclusion: Feeding problems occur frequently in children with NS, especially in children with NS based on genetic mutations other than PTPN11 and SOS1. Feeding problems develop most often in infancy and decrease with age. What is Known:• Young children with Noonan syndrome may have transient feeding problems.• Most of them will need tube feeding. What is New:• This is the first study of feeding problems in patients with clinically and genetically proven Noonan syndrome.• Feeding problems most often develop in infancy and resolve between the age of 1 and 2.

Complex Congenital Heart Defect, Heterotaxy, Imperforate Anus, and Other Congenital Anomalies in a 27-Week Infant: A Case Study

2014 ◽  
Vol 33 (4) ◽  
pp. 199-203 ◽  
Author(s):  
Angela Koerner
Keyword(s):  
Congenital Anomalies ◽  
Intraventricular Hemorrhage ◽  
Congenital Heart ◽  
Surgical Intervention ◽  
First Year ◽  
Risk Of Infection ◽  
Cardiac Defects ◽  
Live Births ◽  
First Year Of Life

According to multiple researchers and studies, congenital heart disease (CHD) occurs in approximately 4.8–12.0 of 1,000 live births in the general population, and 2.4 per 1,000 cases are serious enough to require surgery or cardiac catheterization in the first year of life.1 Historically, it has been assumed that the earlier the gestational age with CHD, the poorer the outcome; however, with continued improvements in neonatal care, this hypothesis should be looked at more closely. This case illustrates the challenges associated with prematurity, complex cardiac defects, intraventricular hemorrhage (IVH), and other congenital anomalies that increase the risk of infection and/or surgical intervention. It will discuss the hospital course of a twin, born at 27 weeks gestation, who was found to have all of these diagnoses, yet, despite the complexity of his case, he had a predominantly uncomplicated hospital course.

Atypical Presentation of Infantile Hepatic Hemangioma: A Case Study

2017 ◽  
Vol 36 (6) ◽  
pp. 374-379
Author(s):  
Ashley Sartori ◽  
Gayle Leary Omansky ◽  
Steven Ringer
Keyword(s):  
Heart Failure ◽  
Congestive Heart Failure ◽  
Multidisciplinary Team ◽  
First Year ◽  
Hepatic Hemangioma ◽  
Atypical Presentation ◽  
Team Care ◽  
First Year Of Life ◽  
High Output

AbstractInfantile hepatic hemangioma (IHH) is the most common benign hepatic tumor of infancy. It is characterized by rapid proliferation in the first year of life, followed by slow involution during childhood. Presentation can range from asymptomatic to severe, high-output congestive heart failure (CHF). The purpose of this article is to review the case of an infant with an atypical presentation of IHH. It also addresses pathophysiology, diagnosis, management, and multidisciplinary team care.

scholarly journals Prevalence and risk factors for epilepsy in children with spastic cerebral palsy

2016 ◽  
Vol 50 (1) ◽  
pp. 11
Author(s):  
Dedy Rahmat ◽  
Irawan Mangunatmadja ◽  
Bambang Tridjaja ◽  
Taralan Tambunan ◽  
Rulina Suradi
Keyword(s):  
Risk Factors ◽  
Central Nervous System ◽  
Nervous System ◽  
Cerebral Palsy ◽  
Central Nervous System Infection ◽  
First Year ◽  
Genetic Syndrome ◽  
Female Ratio ◽  
Increased Risk ◽  
First Year Of Life

Background Epilepsy in cerebral palsy (CP) is usually difficult to treat and can lead to poor prognosis due to increased risk for motor and cognitive disorders. The prevalence and risk factors of epilepsy in children with CP vary among studies.Objective To determine the prevalence and risk factors for epilepsy in spastic CP.Methods We performed a retrospective study using medical records of patients with spastic CP at the Departement of Child Health, Cipto Mangunkusumo Hospital from January 2003 until December 2008. Prevalence ratio was calculated by comparing the prevalence of epilepsy in subjects with and without risk factors. We excluded patients with metabolic disorder, genetic syndrome, and onset of CP after 3 years of age.Results Two hundred thirty six out of 238 spastic CP patients were analyzed. The mean age at diagnosis of spastic CP was 28.8 months. Male to female ratio was 1.4:1. The prevalence of epilepsy in spastic CP was 39%. The risk factors for epilepsy in spastic CP were central nervous system infection, the ocurrence of seizure in the first year of life, and abnormality of EE G.Conclusions The prevalence of epilepsy in spastic CP is 39%. The risk factors for epilepsy in spastic CP are post central nervous system infection, and ocurrence of seizure in the first year of life. [Paediatr Indones. 2010;50:11-7].

scholarly journals Genetic diversity and mate selection in a reintroduced population of gray wolves

2022 ◽  
Vol 12 (1) ◽  
Author(s):  
David E. Ausband
Keyword(s):  
Genetic Diversity ◽  
Mate Selection ◽  
Genetic Relatedness ◽  
First Year ◽  
Average Heterozygosity ◽  
Gray Wolves ◽  
Pup Survival ◽  
Wildlife Populations ◽  
First Year Of Life

AbstractThe genetic composition of an individual can markedly affect its survival, reproduction, and ultimately fitness. As some wildlife populations become smaller, conserving genetic diversity will be a conservation challenge. Many imperiled species are already supported through population augmentation efforts and we often do not know if or how genetic diversity is maintained in translocated species. As a case study for understanding the maintenance of genetic diversity in augmented populations, I wanted to know if genetic diversity (i.e., observed heterozygosity) remained high in a population of gray wolves in the Rocky Mountains of the U.S. > 20 years after reintroduction. Additionally, I wanted to know if a potential mechanism for such diversity was individuals with below average genetic diversity choosing mates with above average diversity. I also asked whether there was a preference for mating with unrelated individuals. Finally, I hypothesized that mated pairs with above average heterozygosity would have increased survival of young. Ultimately, I found that females with below average heterozygosity did not choose mates with above average heterozygosity and wolves chose mates randomly with respect to genetic relatedness. Pup survival was not higher for mated pairs with above average heterozygosity in my models. The dominant variables predicting pup survival were harvest rate during their first year of life and years pairs were mated. Ultimately, genetic diversity was relatively unchanged > 20 years after reintroduction. The mechanism for maintaining such diversity does not appear related to individuals preferentially choosing more genetically diverse mates. Inbreeding avoidance, however, appears to be at least one mechanism maintaining genetic diversity in this population.

Cholesteryl Ester Storage Disease

2016 ◽  
Author(s):  
Carla E. M. Hollak
Keyword(s):  
Cholesteryl Ester ◽  
Lysosomal Storage Disorder ◽  
Storage Disease ◽  
Clinical Phenotype ◽  
First Year ◽  
Lysosomal Storage ◽  
Fatal Disease ◽  
Enzyme Replacement ◽  
Aggressive Form ◽  
First Year Of Life

Cholesteryl ester storage disease is a very rare lysosomal storage disorder that may present in an attenuated form in adult patients. This clinical phenotype is clearly distinguished from the aggressive form of cholesteryl ester storage disease known as Wolman disease with rapidly progressive, often fatal disease within the first year of life. Most patients with an attenuated form present with “fatty liver” due to the accumulation of cholesterol esters and triglycerides. Most have splenomegaly as well. Enzyme replacement therapy has been recently developed. The natural course of very mild cases and the risk of developing liver failure are currently unknown.

scholarly journals Chronic Idiopathic Neutrophilia in Two Twins

2014 ◽  
Vol 2014 ◽  
pp. 1-3
Author(s):  
Roberto Miniero ◽  
Giuseppe Antonio Mazza ◽  
Federica Altomare ◽  
Carla Fusaro
Keyword(s):  
Case Report ◽  
Neutrophil Count ◽  
Scientific Literature ◽  
First Year ◽  
Long Period ◽  
First Case ◽  
Age Dependent ◽  
Blood Neutrophils ◽  
First Year Of Life

Neutrophilia in adults refers to an alteration in the total number of blood neutrophils that is in excess of about 7500 cells/μL. This definition is restrictive in childhood as neutrophil count is age-dependent. Chronic Idiopathic Neutrophilia (CIN) refers to a condition that persists for many years in individuals who appear otherwise healthy. CIN is rarely mentioned in scientific literature and in academic books of hematology; only few words are dedicated to this topic. We report a case study of two twins with CIN followed from the first year of life to 24 years of age. To the best of our knowledge this is the first case report of two twins with CIN followed through a long period of time. We believe that our observation may contribute to better understand and characterize this hematologic abnormality.

Monthly variation in faeces:blood concentration ratio of persistent organic pollutants over the first year of life: a case study of one infant

2016 ◽  
Vol 147 ◽  
pp. 259-268 ◽  
Author(s):  
Yiqin Chen ◽  
Michael S. McLachlan ◽  
Sarit Kaserzon ◽  
Xianyu Wang ◽  
Liesbeth Weijs ◽  
...  
Keyword(s):  
Organic Pollutants ◽  
Persistent Organic Pollutants ◽  
Concentration Ratio ◽  
First Year ◽  
Monthly Variation ◽  
First Year Of Life

scholarly journals Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 Variants

2018 ◽  
Vol 2018 ◽  
pp. 1-4 ◽  
Author(s):  
Kameryn M. Butler ◽  
Philip J. Holt ◽  
Sarah S. Milla ◽  
Cristina da Silva ◽  
John J. Alexander ◽  
...  
Keyword(s):  
Cerebellar Atrophy ◽  
Epileptic Encephalopathy ◽  
First Year ◽  
Compound Heterozygous ◽  
Whole Exome ◽  
Novel Variants ◽  
Voltage Dependent ◽  
Clinical Description ◽  
Compound Heterozygous Variants ◽  
First Year Of Life

CACNA2D2 encodes an auxiliary subunit of the voltage-dependent calcium channel. To date, there have only been two reports of individuals with early-infantile epileptic encephalopathy due to CACNA2D2 mutations. In both reports, patients were homozygous for the identified variants. Here, we report a patient with epileptic encephalopathy and cerebellar atrophy who was found to have two novel variants in the CACNA2D2 gene: c.782C>T (p.Pro261Leu) and c.3137T>C (p.Leu1046Pro), by whole-exome sequencing. The variants were shown to be inherited in trans and the unaffected parents were confirmed to be heterozygous carriers. This is the third report of recessive CACNA2D2 variants associated with disease and the first report of compound heterozygous variants. The clinical description of this new case highlights the phenotypic similarities amongst individuals with CACNA2D2-related disease and suggests that CACNA2D2 should be considered as a differential diagnosis in individuals with cerebellar dysfunction and multiple seizure types that begin in the first year of life.

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