Posttraumatic epilepsy in critically ill children with traumatic brain injury.

PURPOSE: The aim of this study was to determine the clinical, laboratory, and radiological factors related with posttraumatic epilepsy (PTE). METHODS: The study is a multicenter descriptive cross-sectional cohort study. Children who followed up for TBI in the pediatric intensive care unit between 2014 and 2021 were included. Demographic data and clinical and radiological parameters were recorded from electronic case forms. All patients who were in the 6-month posttraumatic period were evaluated by a neurologist for PTE. RESULTS: Four hundred seventy-seven patients were included. The median age at the time of trauma was 66 (IQR 27-122) months, and 298 (62.5%) were male. Two hundred eighty (58.7%) patients had multiple traumas. The mortality rate was 11.7%. The mean duration of hospitalization, pediatric intensive care unit hospitalization and mechanical ventilation, Rotterdam score, PRISM III score, and GCS at admission were higher in patients with epilepsy (p < 0.05). The rate of epilepsy was higher in patients with severe TBI, cerebral edema on tomography and clinical findings of increased intracranial pressure, blood transfusion in the intensive care unit, multiple intracranial hemorrhages, and intubated patients (p < 0.05). In logistic regression analysis, the presence of intracranial hemorrhage in more than one compartment of the brain (OR 6.13, 95%CI 3.05-12.33) and the presence of seizures (OR 9.75, 95%CI 4.80-19.83) were independently significant in terms of the development of epilepsy (p < 0.001). CONCLUSIONS: In this multicenter cross-sectional study, intracranial hemorrhages in more than one compartment and clinical seizures during intensive care unit admission were found to be independent risk factors for PTE development in pediatric intensive care unit patients with TBI.

Determinants of Quality of Life after Pediatric Traumatic Brain Injury.

Introduction Pediatric traumatic brain injury (TBI) is a significant cause of death and long-term disability. There is a paucity of data on quality of life in survivors of pediatric TBI. The aim of this study is to determine the factors affecting the quality of life after TBI in children. Methods Consecutively admitted 104 of 156 patients to the pediatric intensive care unit (PICU) with TBI between 1 month and 18 years were included in the study. Demographics were obtained from electronic records. Injury severity and mortality scores were calculated. The Pediatric Quality of Life Inventory (PedsQL) scale and Glasgow Outcome Scale (GOS) score were evaluated by interview with patient or the caregiving parents. The Rotterdam computed tomography (CT) score was calculated from the radiology images taken within the first 24 hours after admission to the emergency service. Results Severe TBI, multiple trauma, intracranial hemorrhage from multiple sites, convulsions, high intracranial pressure, emergency operation on admission, and hypotension on admission were associated with low PedsQL values according to results of univariate analysis ( p < 0.05). There was a negative correlation between PedsQL and GOS, mechanical ventilation duration, PICU length of stay (LOS), and hospital LOS. In the linear regression model made by considering the univariate analysis results, it was shown that Rotterdam CT score and PICU LOS are independent variables that determine low PedsQL score. PedsQL scores were lower in children ≥ 8 years of age and in those evaluated within the first year after discharge ( p = 0.003). Conclusion In pediatric TBI, Rotterdam CT score and PICU LOS were found as independent variables determining PedsQL score after discharge.

Mitochondrial trifunctional protein deficiency as a polyneuropathy etiology in childhood.

BACKGROUND: The mitochondrial trifunctional protein (MTP) is a multienzyme complex of the fatty acid betaoxidation cycle. Mitochondrial trifunctional protein deficiency (MTPD), a rare condition that leads to failure of converting certain fats to energy is characterized by decreased activity of three enzymes in the enzyme complex. Signs and symptoms of MTPD may present during infancy or later in life; those that begin after infancy include hypotonia, muscle pain, rhabdomyolysis, and peripheral neuropathy. We report a Turkish boy diagnosed with MTPD after being investigated for polyneuropathy of unknown origin since infancy. CASE: A 5.5-year-old male patient was admitted to our clinic with complaints of weakness in the arms and legs, physical inactivity compared to his peers, fatigue, weakness and, difficulty in climbing stairs since infancy. Electroneuromyography (ENMG) analysis showed moderate symmetric distal sensorimotor and axonal neuropathy. On the background of chronic polyneuropathy, the patient had acute relapsing episodes with progressively worsening severity in the follow-up period until 12.5 years of age. Whole exome sequencing (WES) was performed in the patient and, revealed that the patient had a homozygous c.1390G > A (p.Gly464Ser) pathogenic variant of the HADHB gene. Although rhabdomyolysis is a well defined accompanying clinical feature of MTPD, it was not present in our patient who only had worsening muscle weakness during attacks. CONCLUSION: On the background of chronic polyneuropathy and acute relapsing episodes triggered by fasting or illnesses and rhabdomyolysis physicians should suspect disorders of the fatty acid beta-oxidation cycle.