Clinical features and imaging manifestations of acute necrotizing encephalopathy in children.

PURPOSE: We summarized the clinical features of acute necrotizing encephalopathy (ANE) in children. METHODS: Clinical data of 14 children with ANE at one center from January 2017 to January 2020 were retrospectively analyzed. ANE severity score (ANE-ss) was used to assess ANE severity, and the Glasgow Outcome Scale-Extended was used to assess functional outcomes. RESULTS: Peak incidence was between 1 and 3 years of age (71%), and a large percentage of males were affected (79%). The main manifestations included fever (100%), seizure (86%), and impaired consciousness (100%). Seven patients (58%) developed status epilepticus. The etiology was identified in 10 patients (71%) and mainly included H1N1 (36%) and Epstein-Barr virus (29%).Complications included multiple organ failure (MOF), predominantly liver (36%), heart (21%) and kidney (7%) failure, gastrointestinal hemorrhage (21%), hypernatremia (7%), hematuria (7%), disseminated intravascular coagulation (7%), and shock (7%). Pleocytosis was observed in two patients, and increased cerebrospinal fluid protein was found in 11 patients. A missense mutation in RANBP2 (c.1754C>T: p.Thr585Met) was observed in one patient. Magnetic resonance imaging revealed increased T2 and T1 signal density in multifocal and symmetric brain lesions (bilateral thalami, 100%) in all patients during the acute phase. There were no deaths. Nine children retained neurological sequelae affecting movement, cognition, speech, vision, and/or seizure. Four children recovered almost completely. There was a significant correlation between risk classification and outcome by ANE-ss. CONCLUSION: ANE is a group of clinical and imaging syndromes. Most patients have severe neurological sequelae, and ANE may have lower mortality. And ANE-ss can assess prognosis.

[Molybdenum cofactor deficiency caused by MOCS1 gene mutation: a case report].

A boy attended the hospital at the age of 1 month due to left hand tremor for 1 week. A blood test showed a reduction in serum uric acid and a cranial MRI showed encephalomalacia, atrophy, and cystic changes. The boy had microcephalus, unusual facial features (long face, long forehead, protruded forehead, long philtrum, low nasal bridge, facial swelling, and thick lower lip), hypertonia of lower extremities, and severe global developmental delay. Whole-exome sequencing performed for the boy detected a homozygous mutation, c.217C > T(p.R73W), in the MOCS1 gene, which came from his parents and was determined as "possibly pathogenic". The boy was diagnosed with molybdenum cofactor deficiency type A based on clinical manifestations and gene test results. This disease is reported for the first time in China.