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Background: Congenital disorders of glycosylation (CDG) type I include variants in the DPM1 gene leading to DPM1-CDG. The nine previously reported patients showed developmental delay, seizures, electroencephalography abnormalities and dysmorphic features with varying disease onset and severity. Methods: Clinical features of a new patient are described. Whole exome sequencing using NGS was performed, followed by molecular simulation of the structural changes in the protein. Results: Our patient with DPM1-CDG presented with more severe symptoms and an earlier onset, specifically non-febrile seizures from the age of 3 weeks, global developmental delay, and severely retarded motor skills. She died at the age of 11 weeks after fulminant sepsis. We identified compound heterozygous variants in the DPM1 gene, one previously reported point mutation c.1A > C p.? as well as the novel variant c.239_241del p.(Lys80del), resulting in the first in-frame deletion located in exon 2. Loss of Lys80 may lead to an impaired α-helical configuration next to the GDP/GTP binding site. Conclusion: The presented case extends the spectrum of DPM1-CDG to a very young and severely affected child. The deletion of Lys80 in DPM1 results in an impaired helical configuration. This has implications for further understanding the association of structure and function of DPM1.
RESUMO
Introduction Amplitude-integrated electroencephalography (aEEG) is one of the most widely used neuromonitoring tools in neonatology today. However, little is known about its clinical indications and potential benefits in pediatric intensive care patients. Based on limited experience, its impact on therapeutic decision-making in this patient population is unclear. Case Description We report the case of a 16-year-old boy who, after a pansinusitis, developed a severe meningoencephalitis and intracranial empyema with increased intracranial pressure that required drainage and decompressive craniectomy. He subsequently developed status epilepticus despite a combination of various anticonvulsants. Only after the initialization of an aEEG, we were able to adequately diagnose and continuously monitor his seizure activity and titrate the effect of the antiepileptic drugs. During his hospital stay, we were able to clearly monitor and guide our therapy by accurately identifying the termination of status epilepticus and the recurrence of seizures. Discussion With the help of aEEG, it was easy to identify the nonconvulsive status epilepticus (NCSE) and the ongoing seizure activity in this teenage patient. NCSE is a clinical problem with an effect on the outcome of the patient and is often underdiagnosed. AEEG enabled a rapid detection and management of seizure activity and thereby reduced the overall seizure burden, which was associated with better neurologic outcome.