Case analysis of epilepsy, neurodevelopmental disorder, and motor disorders associated with mutations in the dehydrodolichyl diphosphate synthase gene.

The objective of this study is to analyze the role of dehydrodolichyl diphosphate synthase (DHDDS), a crucial enzyme in the mevalonate pathway, and its encoded mutations in the onset of developmental delay and seizures, with or without movement abnormalities. Its genotype-phenotype characteristics are still inconclusive. We analyzed the clinical characteristics of epilepsy, and neurodevelopmental and motor disorders related to DHDDS gene mutations and report the genotype-phenotype characteristics of a child with epilepsy caused by DHDDS gene mutation, providing a summary and a statistical analysis of epilepsy cases associated with DHDDS gene mutation up until February 2022. METHODS: Using "DHDDS; epilepsy; neurodevelopmental disorder" as the keywords, the literature relevant to DHDDS gene mutations up until February 2022 was reviewed. A total of 25 cases were retrieved, among which 21 cases with complete data were included in the chi-squared test. The clinical characteristics of DHDDS gene-related cases were summarized and analyzed. RESULTS: The onset of epilepsy caused by mutations of the DHDDS gene typically occurs during infancy. Predominantly, the mutation occurs in the locus of c.632G>A p.R211Q. Myoclonus is frequently the initial manifestation of epilepsy; it frequently coexists with neurodevelopmental disorder and intellectual disability, and patients have no specific type of motor disorder. Cranial magnetic resonance imaging (MRI) reveals no abnormalities, whereas electroencephalogram (EEG) frequently exhibits abnormalities. Valproic acid (VPA) yields good curative effects. CONCLUSION: Mutations in the DHDDS gene are associated with congenital glycosylation disorder, autosomal recessive retinitis pigmentosa, and epilepsy. According to statistical analysis using the chi-squared test, for pediatric patients with mutations in this gene locus, most of the epilepsy types are myoclonic epilepsies with intellectual disability and neurodevelopmental disorders. They have normal brain MRIs and abnormal EEGs. VPA produces beneficial therapeutic results and the differences are all statistically significant. The current diagnosis still relies on next-generation sequencing or whole-exome sequencing.

A case of 15q11-q13 duplication syndrome and literature review.

BACKGROUND: The chromosomal 15q11-q13 regions are structurally complex, and their abnormalities are associated with various neuropsychiatric disorders, including autism spectrum disorder (ASD), epilepsy, Angelman syndrome, and Prader-Willi syndrome. CASE DESCRIPTION: A 6-year-old child was admitted to the hospital as a result of an "epileptic status" showing ASD, intractable epilepsy, and total developmental retardation. Chromosome gene detection showed repetitive variation in the 15q11-q13 regions, and the video electroencephalogram was abnormal. Although children are currently given antiepileptic treatment and rehabilitation training, intermittent seizures can still occur. CONCLUSION: The clinical phenotypes of 15q11-q13 repetitive syndrome are complex, and vary in severity. Children with intractable epilepsy, ASD, and language and motor retardation should be considered to have this syndrome, which requires confirmation by multiplex ligation-dependent probe amplification and gene detection. These approaches can enable early rehabilitation treatment and improve the patients' quality of life.

[Blepharoptosis and dysarthria in a boy aged 2 years].

A boy, aged 2 years and 4 months, had a sudden onset of blepharoptosis of the right eyelid, accompanied by the mouth deviated to the right side, drinking cough, nystagmus, and developmental regression. Cranial MRI showed softening lesions formed after infarction of the right dorsolateral medulla oblongata, while head CT angiography showed no imaging of the proximal part of the V4 segment of the right vertebral artery. The child was diagnosed with dorsolateral medulla oblongata syndrome and was treated with gamma globulin to regulate immune function, with mannitol to reduce neuronal edema, with low-molecular-weight heparin sodium to improve local hypercoagulation of occluded blood vessels, with hyperbaric oxygen to improve local ischemia and hypoxia and promote the recovery of brain function, and with neuromuscular electrical stimulation to promote the recovery of neuromuscular function. Before discharge, only mild right ataxia and Horner syndrome remained. This article reports the first case of infantile dorsolateral medulla oblongata syndrome and provides experience for the diagnosis and treatment of the disease.

[Influence of neonatal diseases and treatments on the development of cerebral palsy in preterm infant].

OBJECTIVE: To investigated the risk factors of cerebral palsy development in preterm infants. METHODS: This study included 203 preterm infants (gestation age < 37 weeks) diagnosed with cerebral palsy (CP) and 220 preterm infants without cerebral palsy or any other severe neurological disorders during April 2005 to August 2011. The risk factors in the development of cerebral palsy, including the diseases of premature infants and the treatments in neonatal period, were analyzed by multiple logistic regression analysis. RESULTS: Multivariate logistic analysis for the risk factors associated with cerebral palsy in neonatal period found significant differences in the occurrence of periventricular leukomalacia (PVL, OR = 39.87, P < 0.05), hypoxia-ischemic encephalopathy (HIE, OR = 4.24, P < 0.05), hypoglycemia of neonatal (OR = 2.18, P < 0.05), neonatal hyperbilirubinemia (OR = 1.72, P < 0.05), continuous positive airway pressure (CPAP, OR = 0.21, P < 0.05). CONCLUSION: The factors including PLV, HIE, hypoglycemia, and neonatal jaundice may increase the risk in the development of CP in preterm infant, while CPAP may decrease the risk of cerebral palsy.

[Application of amplitutude integrated electroencephalography for early diagnosis of brain injury in premature infants].

OBJECTIVE: To study the characteristics of amplitude integrated electroencephalography (aEEG) in preterm infants with brain injury. METHODS: This study included 62 cerebral damage infants with 28-36 weeks gestational age (GA), and another 51 normal infants in control group, aEEG recording was performed to each infant during the first 48 h of life, the duration of each recording was at least 2 h. The features of aEEG, such as continuity(Co), sleep-wake cycling (Cy) and amplitude of the lower border (LB), were evaluated by semiquantitative analysis and compared between the two groups. RESULTS: All the aEEG features were found having significantly lower values in brain injuries group (P < 0.05). Logistic regression of aEEG features to the presence of brain injury revealed that only Cy was significantly correlated to the outcome (OR = 0.217, P < 0.05). ROC curve demonstrated Cy of the best sensitivity and specificity with 0.769 AUC. Co, LB yielded 0.677, 0.602 AUC respectively. Correlation analysis of GA to Co, Cy, LB and total score showed significantly correlated, the correlation coefficient for Co, Cy, LB and total scores were 0.546, 0.488, 0.536, 0.588 respectively (P < 0.05). CONCLUSION: The Cy in the initial aEEG is predictive for brain injury in premature infants with 28-36 weeks GA. The older the GA at birth, the more mature the aEEG pattern in premature neonates.