Brain magnetic resonance imaging findings of pediatric hemophagocytic lymphohistiocytosis could be diagnostic and life-saving

Background: Hemophagocytic lymphohistiocytosis (HLH) is a rare and fatal disease and may also present with central nervous system findings at the beginning without specific diagnostic criteria. Brain magnetic resonance imaging (MRI) findings are diverse and can also be diagnostic. We aimed to emphasize the importance of brain MRI findings in the early diagnosis of this fatal disease. Methods: MRI findings, clinical presentations, treatment response, and prognosis of seven patients with HLH were described. Results: There were seven pediatric patients who were initially diagnosed with HLH with neurological findings without systemic signs of HLH: four as primary, two as secondary, and one as possible primary HLH. All patients had contrast-enhancing diffuse cerebellar and brainstem lesions; patchy periventricular and callosal cerebral lesions were observed. Thalamus involvement was found in three (42.8%), corpus callosum involvement in six (85.7%), and cervical spinal involvement in one (14.2%). Patients were followed up with these MRI findings, with prediagnoses of toxic, metabolic, infectious, vascular, and demyelinating diseases. Not all patients met the HLH diagnostic criteria due to incomplete systemic/laboratory findings; therefore, only two were immediately directed for hematopoietic stem cell therapy. Four died shortly after admission, one patient could not be followed up after HLH treatment, and two patients who fulfilled the HLH diagnostic criteria underwent hematopoietic stem cell transplantation and survived. Conclusions: Brain MRI findings, especially in the presence of neurological findings, allow for early diagnosis, which can be life-saving. These common features in brain MRI findings should be evaluated with this suspicion and included in HLH diagnostic criteria

Single gene, two diseases, and multiple clinical presentations: Biotin-thiamine-responsive basal ganglia disease

Aim: To present seven new genetically confirmed cases of biotin-thiamin-responsive basal ganglia disease (BTBGD) with different clinical and brain magnetic resonance imaging (MRI) characteristics. Material and methods: Genetic variants, clinical presentations, brain MRI findings, treatment response, and prognosis of seven selected patients with BTBGD, diagnosed with SLC19A3 mutations were described. Results: Among seven patients diagnosed with BTBGD, two had early infantile form, four had classic childhood form, and one was asymptomatic. Four different homozygous variants were found in the SLC19A3. Two patients with early infantile form presented with encephalopathy, dystonia, and refractory seizure in the neonatal period and have different variants. Their MRI findings were similar and pathognomonic for the early infantile form. Three siblings had same variants: one presented seizure and encephalopathy at the age of 4 months, one presented seizure at 14 years, and another was asymptomatic at 20 years. Only one of them had normal MRI findings, and the others MRI findings were similar and suggestive of the classic form. Other two siblings; one of them presented with developmental delay, seizure, and dystonia at 18 months and the other presented with subacute encephalopathy and ataxia at 20 months. Their MRI findings were also similar and suggestive of the classic form. Conclusion: BTBGD may present with dissimilar clinical characteristics or remain asymptomatic for a long time period even in a family or patients with same variants. Brain MRI patterns may be important for the early diagnosis of BTBGD that would save children's lives

Normal neonatal electroencephalography and maturation of electroencephalography during neonatal period

Despite evolving technologies, electroencephalography (EEG) remains a powerful tool for neurological diagnosis and prognosis in both preterm and term neonates. Neonatal EEG is different from children and adult's EEG technically and also because it changes week by week as a result of brain maturation and growth. An EEG finding normal in a developmental stage may be abnormal in a different developmental stage owing to these rapid changes of brain growth. So it is important to know normal patterns of neonatal EEG in different conceptional weeks and behavioral states (sleep, awakeness). In this section, technical and qualitative features of normal neonatal EEG will be mentioned, normal graphoelements and maturational changes on the EEG background of neonates going through preterm to term age will be described