| 1. |
- Alhusani, A, et al.
(författare)
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Adenosine Kinase Deficiency: Report and Review
- 2019
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Ingår i: Neuropediatrics. - : Georg Thieme Verlag KG. - 1439-1899 .- 0174-304X. ; 50:1, s. 46-50
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Tidskriftsartikel (refereegranskat)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.
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| 2. |
- Nilsson, Gill, et al.
(författare)
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Prevalence of Febrile Seizures, Epilepsy, and Other Paroxysmal Attacks in a Swedish Cohort of 4-Year-Old Children.
- 2016
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Ingår i: Neuropediatrics. - : Georg Thieme Verlag KG. - 1439-1899 .- 0174-304X. ; 47:6, s. 368-373
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Tidskriftsartikel (refereegranskat)abstract
- A questionnaire about any type of seizures was distributed to parents at the children's 4-year health surveillance at Child Healthcare Centers in Gothenburg, Sweden, to analyze the prevalence of febrile seizures (FS), epilepsy, and other paroxysmal attacks. Parents who reported any kind of seizures in their child were subsequently contacted by telephone to confirm the information given and to invite the child to a clinical assessment. In addition, hospital registers and individual records were checked of the appropriate age group as regards a diagnosis of epilepsy or febrile seizures. Parents of 4,290 of 6,076 eligible children (71%) completed the questionnaire. For 252 children (5.9%), any type of paroxysmal attack was reported: FS in 157/4,290 children (3.7%), epilepsy in 22/4,290 (0.5%), and other paroxysmal attacks in 75/4,290 (1.7%). Epilepsy developed in 4 out of 157 (2.5%) children with FS before their fifth birthday. This population-based study, covering all types of paroxysmal attacks in preschool children revealed a total prevalence of nearly 6%, the largest group being FS. The total rate of paroxysmal attacks in preschool children is equal to the rate of developmental/neuropsychiatric disorders in this age group. The conditions constitute a large group in pediatrics and entail considerable concern among parents.
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| 3. |
- Rice, Gillian I, et al.
(författare)
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Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
- 2017
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Ingår i: Neuropediatrics. - : Georg Thieme Verlag KG. - 1439-1899 .- 0174-304X. ; 48:3, s. 166-184
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Tidskriftsartikel (refereegranskat)abstract
- We investigated the genetic, phenotypic, and interferon status of 46 patients from 37 families with neurological disease due to mutations in ADAR1. The clinicoradiological phenotype encompassed a spectrum of Aicardi-Goutières syndrome, isolated bilateral striatal necrosis, spastic paraparesis with normal neuroimaging, a progressive spastic dystonic motor disorder, and adult-onset psychological difficulties with intracranial calcification. Homozygous missense mutations were recorded in five families. We observed a p.Pro193Ala variant in the heterozygous state in 22 of 23 families with compound heterozygous mutations. We also ascertained 11 cases from nine families with a p.Gly1007Arg dominant-negative mutation, which occurred de novo in four patients, and was inherited in three families in association with marked phenotypic variability. In 50 of 52 samples from 34 patients, we identified a marked upregulation of type I interferon-stimulated gene transcripts in peripheral blood, with a median interferon score of 16.99 (interquartile range [IQR]: 10.64-25.71) compared with controls (median: 0.93, IQR: 0.57-1.30). Thus, mutations in ADAR1 are associated with a variety of clinically distinct neurological phenotypes presenting from early infancy to adulthood, inherited either as an autosomal recessive or dominant trait. Testing for an interferon signature in blood represents a useful biomarker in this context.
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| 4. |
- Vollmer, Brigitte, et al.
(författare)
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Young Adult Motor, Sensory, and Cognitive Outcomes and Longitudinal Development after Very and Extremely Preterm Birth
- 2019
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Ingår i: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 50:4, s. 219-227
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Forskningsöversikt (refereegranskat)abstract
- In this narrative review, we report on adult outcomes after very (before 32 weeks of gestation [wGA]) and extremely (before 28 wGA) preterm birth, with a focus on neuromotor function, neurosensory impairment, general cognitive abilities, executive function, and attentional abilities, all of which are important for academic progress, peer relationships, and participation. Longitudinal development from childhood to adulthood is described. Preterm born individuals have a higher risk for impairment of general cognitive abilities, executive function, attention, and neuromotor abilities well into adulthood, with, however, considerable variability in outcomes. Differences between individuals born preterm and their term born peers persist. Long-term outcomes of general cognitive ability can be predicted with some degree of certainty from childhood assessments: those who perform poor on early childhood age assessments very likely will not catch up, whereas those who perform within the normal range on early assessments sometimes accelerate their development relative to term born peers. This appears similar for executive function and attention, although data on trajectories for these functions are somewhat inconsistent. In adulthood, some studies describe poorer educational outcomes, employment, independent living, and/or economic situation compared with term born individuals; however, large proportion of those born preterm report similar self-perceived quality of life.
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| 5. |
- Wortmann, Saskia B, et al.
(författare)
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Eyes on MEGDEL: Distinctive Basal Ganglia Involvement in Dystonia Deafness Syndrome.
- 2015
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Ingår i: Neuropediatrics. - : Georg Thieme Verlag KG. - 1439-1899 .- 0174-304X. ; 46:2, s. 098-103
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Tidskriftsartikel (refereegranskat)abstract
- Pediatric movement disorders are still a diagnostic challenge, as many patients remain without a (genetic) diagnosis. Magnetic resonance imaging (MRI) pattern recognition can lead to the diagnosis. MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome MIM #614739) is a clinically and biochemically highly distinctive dystonia deafness syndrome accompanied by 3-methylglutaconic aciduria, severe developmental delay, and progressive spasticity. Mutations are found in SERAC1, encoding a phosphatidylglycerol remodeling enzyme essential for both mitochondrial function and intracellular cholesterol trafficking. Based on the homogenous phenotype, we hypothesized an accordingly characteristic MRI pattern. A total of 43 complete MRI studies of 30 patients were systematically reevaluated. All patients presented a distinctive brain MRI pattern with five characteristic disease stages affecting the basal ganglia, especially the putamen. In stage 1, T2 signal changes of the pallidum are present. In stage 2, swelling of the putamen and caudate nucleus is seen. The dorsal putamen contains an "eye" that shows no signal alteration and (thus) seems to be spared during this stage of the disease. It later increases, reflecting progressive putaminal involvement. This "eye" was found in all patients with MEGDEL syndrome during a specific age range, and has not been reported in other disorders, making it pathognomonic for MEDGEL and allowing diagnosis based on MRI findings.
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