Abstract:
:Adenosine kinase (ADK) deficiency (OMIM [online mendelian inheritance in man]: 614300) is an autosomal recessive disorder of adenosine and methionine metabolism, with a unique clinical phenotype, mainly involving the central nervous system and dysmorphic features. Patients usually present early in life with sepsis-like symptoms, respiratory difficulties, and neonatal jaundice. Subsequently, patients demonstrate hypotonia and global developmental delay. Biochemically, methionine is elevated with normal homocysteine levels and the diagnosis is confirmed through molecular analysis of the ADK gene. There is no curative treatment; however, a methionine-restricted diet has been tried with variable outcomes. Herein, we report a 4-year-old Saudi female with global developmental delay, hypotonia, and dysmorphic features. Interestingly, she has a tall stature, developmental dysplasia of the hip, optic nerve gliosis, and tigroid fundus. We found a mutation not reported previously and we compared the current case with previously reported cases. We alert clinicians to consider ADK deficiency in any neonate presenting with global developmental delay, hypotonia, dysmorphic features, and high methionine levels.
journal_name
Neuropediatricsjournal_title
Neuropediatricsauthors
Alhusani A,Obaid A,Blom HJ,Wedell A,Alfadhel Mdoi
10.1055/s-0038-1676053subject
Has Abstractpub_date
2019-02-01 00:00:00pages
46-50issue
1eissn
0174-304Xissn
1439-1899journal_volume
50pub_type
杂志文章,评审相关文献
NEUROPEDIATRICS文献大全abstract::The content of free amino acids in the cerebrospinal fluid from 52 children in different age groups with febrile seizures were determined and compared to 88 age matched children without seizures. We found that the concentrations of some amino acids in CSF in the control group decreased slowly with age, reaching the co...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1071277
更新日期:1989-08-01 00:00:00
abstract::Biotin-responsive basal ganglia disease is a rare entity of which 10 cases have been reported in the literature. We report a case of biotin-responsive basal ganglia disease with similarities and differences compared to the previously reported cases by Ozand et al. Our case presented much earlier, was milder and respon...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-0028-1128152
更新日期:2008-10-01 00:00:00
abstract:INTRODUCTION:Cerebrovascular changes are rarely discussed in patients with hemimegalencephaly. These alterations have previously been associated with epileptical activity. CASE:We report the case of a 36-week gestation neonate presenting with total right hemimegalencephaly, as demonstrated by a magnetic resonance imag...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0029-1237721
更新日期:2009-04-01 00:00:00
abstract::Anti-N-methyl-D-aspartate receptor encephalitis (anti-NMDARe) was originally described as a paraneoplastic disease with more than 50% cases involving a tumor. However, tumor incidence in anti-NMDARe in children is much lower. Herpes simplex virus-induced anti-NMDARe has been well-described; however, findings on Japane...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-0038-1675607
更新日期:2019-04-01 00:00:00
abstract:BACKGROUND:Advanced modalities such as functional magnetic resonance imaging (MRI) and diffusion MR tractography offer in vivo information about brain networks and are therefore increasingly used for neurosurgical planning in children also. AIM:This study aims to study the application of routine and advanced tractogra...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0034-1395346
更新日期:2015-02-01 00:00:00
abstract::Introduction Guillain-Barré syndrome (GBS) is an autoimmune peripheral neuropathy characterized by demyelination and axonal damage. Biallelic functional polymorphisms in the immunoglobulin G Fc receptors (FcγR)-FcγRIIA: H131/R131, FcγRIIIA: V158/F158, and FcγRIIIB: NA1/NA2 affect the affinity of the IgG-FcγR interacti...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0036-1579633
更新日期:2016-06-01 00:00:00
abstract::A newborn with multiple congenital contractures (MCC) or arthrogryposis multiplex congenita and a leukodystrophy is described. The clinical features and neurophysiological studies suggested a disorder primarily involving the central white matter. The diagnosis of connatal Pelizaeus-Merzbacher disease was made post mor...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1052451
更新日期:1988-11-01 00:00:00
abstract::The lumbar puncture and cerebrospinal fluid (CSF) opening pressure (OP) in children remains an essential diagnostic test for children with suspected elevated intracranial pressure. Recent prospective data have revised the normative CSF OP values and described how clinical variables such as age, depth of sedation, and ...
journal_title:Neuropediatrics
pub_type: 历史文章,杂志文章,评审
doi:10.1055/s-0034-1376202
更新日期:2014-08-01 00:00:00
abstract::Narcolepsy type 1 (NT1) is a rare central disorder of hypersomnolence characterized by excessive daytime sleepiness, cataplexy, sleep paralysis, hallucinations, and fragmented nocturnal sleep usually arising in adolescence or young adulthood. Recently, the childhood NT1 diagnoses have increased for improved disease aw...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-0035-1550152
更新日期:2015-06-01 00:00:00
abstract::Antiquitin deficiency is the most prevalent form of pyridoxine-dependent epilepsy. While most patients present with neonatal onset of therapy-resistant seizures, a few cases with late-onset during infancy have been described. Here, we describe the juvenile onset of epilepsy at the age of 17 years due to antiquitin def...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0037-1621721
更新日期:2018-04-01 00:00:00
abstract::Autosomal recessive spastic ataxia of Charlevoix-Saguenay is an early onset form of hereditary spastic paraplegia with a peculiar clinical presentation. In addition to cerebellar findings which manifest first with ataxic gait in early life and spasticity, on an evolutionary basis, there is axonal neuropathy, prominent...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2001-16616
更新日期:2001-06-01 00:00:00
abstract::Mutations of the SCN2A gene have originally been described in association with benign familial neonatal-infantile seizures (BFNIS). Recently, single patients with more severe phenotypes and persisting epileptic encephalopathies have been recognized. We report the case of a girl with severe infantile onset epileptic en...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0034-1372302
更新日期:2014-08-01 00:00:00
abstract::A child with hypoplasia of the cerebellum and brainstem in association with an unbalanced translocation, resulting in a partial deletion of the short arm of chromosome 5 and a partial trisomy of the short arm of chromosome 10, is described. A balanced translocation was present in his mother and maternal grandmother. A...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-979718
更新日期:1995-02-01 00:00:00
abstract::Intracranial extent and distribution of leptomeningeal angiomatosis, visualized by magnetic resonance imaging (MRI) with Gadolinium-DTPA (Gd-DTPA) enhancement, is demonstrated in four children with Sturge-Weber syndrome (SWS). Aged 7, 9, 11 and 19 months, they presented with cutaneous, neurologic and ocular symptoms a...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1071483
更新日期:1990-08-01 00:00:00
abstract::Muscular dystrophies are a heterogeneous group of inherited diseases. The natural history of these disorders along with their management have changed mainly due to a better understanding of their pathophysiology, the evolution of standards of care, and new treatment options. Dystrophinopathies include both Duchenne's ...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-0037-1601860
更新日期:2017-08-01 00:00:00
abstract::A 7-year-old boy suffering from X-linked hypogammaglobulinemia and progressive myoclonic encephalopathy is reported. The onset of neurological disturbances is at four years of age with ataxic gait and myoclonic jerks. The EEG shows a progressive slowing of background activity, bilateral diffuse and repetitive, pseudop...
journal_title:Neuropediatrics
pub_type: 杂志文章,评审
doi:10.1055/s-2008-1071298
更新日期:1989-11-01 00:00:00
abstract::Fibromuscular dysplasia is a segmental, nonatheromatous angiopathy. A 13-year-old patient is reported with stroke. Left-sided carotid angiogram revealed typical findings of fibromuscular dysplasia in the left carotid artery. ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1071288
更新日期:1989-08-01 00:00:00
abstract::The aims of the present study were: to examine the quality of life (QOL) of parents of children with cerebral palsy (CP) and to establish the possible effect of behaviour problems on their QOL. One-hundred children with CP, aged between 4 and 10 years, and both their parents were included in the study. Both parents co...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-0030-1262841
更新日期:2010-06-01 00:00:00
abstract::The aim of this study was to clarify the significance of positive rolandic sharp waves (PRS) in preterm infants with periventricular leukomalacia (PVL) and their relation to background electroencephalographic (EEG) abnormalities. We retrospectively evaluated EEG findings of 93 preterm infants; 31 infants in the PVL gr...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-973505
更新日期:1999-12-01 00:00:00
abstract::The value of sural nerve biopsy in the diagnosis of metachromatic leucodystrophy (MLD) was studied in 9 MLD-patients and 4 other patients with low arylsulphatase A (ASA)-activities in the leucocytes. In 7 patients (5 of them suffering from MLD) adequate interpretation of low ASA-activity was impossible, either because...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1059594
更新日期:1982-02-01 00:00:00
abstract::Stimulant-associated growth deficits in children with attention deficit hyperactivity disorder (ADHD) have long been a concern. We chose 146 school age children diagnosed with ADHD being treated with methylphenidate (MPH) and 29 drug-free ADHD children, and followed them up for 2-4 years. We recorded the changes in he...
journal_title:Neuropediatrics
pub_type: 临床试验,杂志文章
doi:10.1055/s-0030-1261893
更新日期:2010-08-01 00:00:00
abstract::Neuronal ceroid lipofuscinoses (NCL) represent a group of common progressive encephalopathies of children with a global incidence of 1 in 12,500. NCL are divided into three autosomal recessive subtypes, all assigned to different chromosomal loci. The infantile subtype of NCL (INCL) is characterized by early visual los...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-973655
更新日期:1997-02-01 00:00:00
abstract::We report here the efficacy of amantadine hydrochloride for two patients with alternating hemiplegia of childhood (AHC) that did not respond to flunarizine. Amantadine was administered to one patient at age one year and seven months and to the other at age 25 years. The frequencies and duration of the hemiplegic attac...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2000-12945
更新日期:2000-12-01 00:00:00
abstract::Acute herpes simplex encephalitis (HSE) carries significant morbidity and mortality even after early treatment with antiviral agents (7). As well as causing acute neurological disease, Herpes viruses are associated with relapsing--remitting (Varicella--Zoster, Epstein-Barr) and chronic (Rasmussen encephalitis) disease...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-973546
更新日期:1998-06-01 00:00:00
abstract::Fifty-five patients with microcephaly (head circumference < -2SD) were identified. The 55 patients were divided into two groups, consisting of group 1 (34 cases) in which genetic causes were considered primary, and group 2 (21 cases) in which intrauterine and/or postnatal acquired factors were thought to be responsibl...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1071504
更新日期:1993-02-01 00:00:00
abstract:BACKGROUND:In Rett syndrome the autonomic nervous system is abnormal at various levels, from the central to the peripheral nervous system. A role for serotoninergic dysfunction has been suggested. OBJECTIVES:The aim of our study was to evaluate the relation between cardiac dysautonomia (expressed by means of heart rat...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2004-815789
更新日期:2004-02-01 00:00:00
abstract::Barbiturate anaesthesia is used in the treatment of status epilepticus and severe epilepsy of children. EEG is then used as a measure of the depth of anaesthesia, burst suppression being an easily identified EEG pattern. In this case report we describe epileptiform discharges during EEG suppression in two children und...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1073036
更新日期:1994-10-01 00:00:00
abstract::Congenital horizontal gaze paralysis is a rare disorder which may be associated with severe scoliosis of early onset. We present the clinical findings of two sisters with this syndrome. The additional finding of a unique pericentric inversion of chromosome 12 is considered to be incidental. Every child with congenital...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-973565
更新日期:1998-08-01 00:00:00
abstract::A newborn with a rare type of lissencephaly is reported, characterized by extreme cerebral and cerebellar hypoplasia. The diagnosis was made by postmortem magnetic resonance imaging, indicating the value of such studies to evaluate neuronal migration disorders in patients in whom autopsy cannot be performed. Two earli...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2007-973778
更新日期:1996-10-01 00:00:00
abstract::The response of kidney and bone to parathyroid extract (PTE) was investigated in 8 epileptic children on long-term treatment with primidone in combination with phenytoin or other anticonvulsant drugs. The results indicate a dissociation between normal and cyclic AMP excretion and disturbed renal handling of phosphate ...
journal_title:Neuropediatrics
pub_type: 杂志文章
doi:10.1055/s-2008-1059588
更新日期:1982-02-01 00:00:00