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Objectives X-linked adrenoleukodystrophy (X-ALD), is a peroxisomal inborn error of metabolism caused due to the loss of function variants of ABCD1 gene that leads to accumulation of very long chain fatty acids (VLCFAs) in several tissues including the neurological system. Childhood cerebral X-ALD (CCALD) is the most common and severe form of X-ALD, if left untreated. Allogenic hematopoietic stem cell transplantation (HSCT) is the only available therapy that halts neurological deterioration in CCALD. We present 12 patients with several subtypes of X-ALD that were followed-up in a single center. Methods Data of 12 patients diagnosed with X-ALD were documented retrospectively. Demographics, age of onset, initial symptoms, endocrine and neurological findings, VLCFA levels, neuroimaging data, molecular genetic analysis of ABCD1 gene, and disease progress were documented. Results Mean age of initiation of symptoms was 7.9 years and mean age of diagnosis was 10.45 years. Eight patients had the CCALD subtype, while two had the cerebral form of AMN, one had the adult form of cerebral ALD, and one patient had the Addison only phenotype. The most common initial symptoms involved the neurological system. Loes scores varied between 0 and 12. Seven patients with CCALD underwent HSCT, among them three patients died. The overall mortality rate was 25%. Conclusions Patients with X-ALD should be carefully followed up for cerebral findings and progression, since there is no genotype–phenotype correlation, and the clinical course cannot be predicted by family history. HSCT is the only available treatment option for patients with neurological deterioration.

Background. Enteroviruses-associated acute necrotizing encephalopathy (ANE) of childhood is rarely reported in the literature. Clinico-radiological features of ANE are well-recognized and bilateral thalamic nuclei are frequently affected by ANE. Neuropsychiatric symptoms are rarely seen. Thalamic damage can cause psychosis. Case. Herein, we present a pediatric case of enterovirus-associated ANE presenting with psychosis related to thalamus damage in whom a favorable response to treatment was achieved. Conclusion. Thalamic damage occurs during the Enteroviruses-associated acute necrotizing encephalopathy and it can be related psychiatric sympthoms. Clinicians should be aware of uncommon presentations of ANE, and patients with thalamic damage should be followed for neuropsychiatric manifestations. Early recognition and appropriate treatment of ANE is important to obtain favorable outcomes.