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The cases
Published in Chris Schelvan, Annabel Copeman, Jacky Davis, Annmarie Jeanes, Jane Young, Paediatric Radiology for MRCPCH and FRCR, 2020
Chris Schelvan, Annabel Copeman, Jacky Davis, Annmarie Jeanes, Jane Young
Classification depends on the particular enzyme deficiency. There are seven types in total. Babies are usually normal at birth, but develop multisystem disease by 2 years. Neurological and developmental regression will depend on subtype.
Metabolic Diseases
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Stephanie Grünewald, Alex Broomfield, Callum Wilson
Children with GLUT 1 transport deficiency (GLUT 1) typically present with developmental delay and/or seizures. There may be a history of developmental regression or more commonly failure of developmental progression. There is often a degree of microcephaly. The phenotype is wide with some patients having severe disability and others relatively mild symptoms. Especially in the more mildly affected cases there is often a history of symptoms being better after eating and worsening after a short fast. Paradoxically there may be a history of the children being more alert or having fewer seizures during a period of significant sickness, reflecting the positive effect of a ketogenic state at the time.
Clinical Manifestation of Mitochondrial Disorders in Childhood
Published in Shamim I. Ahmad, Handbook of Mitochondrial Dysfunction, 2019
This is a severe autosomal recessive hepatocerebral syndrome. Psychomotor development delay with developmental regression, intractable (often myoclonic) epilepsy, and liver failure in infants and young children are the hallmarks of the disease (Alpers, 1931). Combination of severe progressive cerebral atrophy with liver cirrhosis is typical. Patients usually die from hepatic failure or status epilepticus by the age of 3 years (Milone and Massie, 2010).
First Alarm and Time of Diagnosis in Autism Spectrum Disorders
Published in Comprehensive Child and Adolescent Nursing, 2022
Sotiria Mitroulaki, Aspasia Serdari, Gregory Tripsianis, Ronnie Gundelfinger, Aikaterini Arvaniti, Theofanis Vorvolakos, Maria Samakouri
In our sample, 40.6% reported that they have noticed regression between 15 and 21 months. Many studies have highlighted the phenomenon of regression (Lainhart et al., 2002; Lord et al., 2004); still, the underlying etiological mechanism as well as the pathophysiology is currently poorly understood (Filipek et al., 1999). One note of caution, however, is data from recent studies that development prior to regression was not typical (Newschaffer et al., 2007). It has been pinpointed (Johnson & Myers, 2007, p. 1193) that “regression can be gradual or sudden, and it may be superimposed on subtle preexisting developmental delays or atypical development.” Last but not least, history of developmental regression has consistently been associated with earlier diagnosis (Rosenberg et al., 2011; Shattuck et al., 2009). Possibly, this finding leads us to the conclusion that children who have lost their previously acquired skills, for example, total loss of expressive language (Filipek et al., 1999), would motivate parents to seek professional advice and refer the child for clinical evaluation. It has been noted (Davidovitch et al., 2000, p. 114) that regression serves as a signal to the parents of their child’s deterioration, and may result in increasing parental motivation to seek help at an earlier stage.
Treatment of infantile spasms: why do we know so little?
Published in Expert Review of Neurotherapeutics, 2020
Nicola Specchio, Nicola Pietrafusa, Alessandro Ferretti, Luca De Palma, Marta Elena Santarone, Chiara Pepi, Marina Trivisano, Federico Vigevano, Paolo Curatolo
Children refractory to drug therapy should be evaluated for epilepsy surgery, especially if focal brain lesions are present [126]. Up to now, the efficacy of epilepsy surgery in patients with IS is highly related to etiology and in particular to the presence of a lesion on brain MR [129]. From reports from a few cohorts of patients, overall seizure freedom rate has been between 60 and 83% [129–135]. The earlier surgery is performed seems to be an important predictor of seizure freedom80% seizure freedom could be achieved in children under 3 years of age [132]. The most frequent surgical approaches are multilobar resection/disconnection or hemispherotomy as very frequently the lesions are quite diffuse or hemispheric [134]. Invasive recordings, and in particular stereo-electroencephalography (SEEG), could be very useful in patients with discordant neuroimaging results (Figure 5A) or in patients with TSC, in which the epileptogenic tubers display a focal organization of the epileptogenic zone (Figure 5B). Early surgical intervention has been hypothesized to protect children with intractable IS from developmental regression and could result in better developmental outcome and quality of life [136]. In wide malformations of cortical development, such as hemimegalencephaly (HME), the sooner the surgery is performed, the better the cognitive outcome is expected, even if a normal intellectual development is difficult to achieve [137].
Advances in the treatment of neuronal ceroid lipofuscinosis
Published in Expert Opinion on Orphan Drugs, 2019
Jonathan B. Rosenberg, Alvin Chen, Stephen M. Kaminsky, Ronald G. Crystal, Dolan Sondhi
CLN2 disease, also known as late infantile neuronal ceroid lipofuscinosis (LINCL), is caused by mutations in the CLN2 gene, which encodes the lysosomal protein tripeptidyl peptidase 1 (TPP1) [46]. Affected children usually display symptoms of the disease by ages 2 to 4, typically starting with recurrent seizures and difficulty in coordinating movements [47,48]. The disease progresses with developmental regression, affecting speech and motor skills. Actions such as sitting and walking become more difficult, as does swallowing. Affected children also develop myoclonus, vision loss, and intellectual disabilities, and typically do not survive past 8 to 12 years [47]. Natural history observational studies have linked genotype and the severity of the phenotype, and the rate of neurologic decline has also been determined [47,49,50]. In an MRI study analyzing CLN2 children (n = 38) compared to healthy controls (n = 52), global thinning of the cortical regions was noted across the brain [49]. In newer observational studies for the same set of CLN2 subjects and healthy controls, MRI was used to measure the regional cortical thickness in the brain, which appears to be 2X thicker in controls vs CLN2 subjects, demonstrating the overall declining neurologic health of the CLN2 children [50]. In a recent study, which used the same methods of assessment for patient cohorts in the US and Europe, the natural history of children afflicted with CLN2 was defined, characterizing a predictable time frame of decline of language and motor skills [51].