• The complete psychotic symptoms' remission with pharmacological doses of pyridoxine and folic acid, without antipsychotic drugs.

Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder, due to inactivating muta-tions of TSC1 or TSC2 mTOR pathway genes and is characterized by variable multisystem manifestations ranging from hamartomas to malignant neoplasms. It frequently associated to seizures, intellectual disability and behavioural disorders. Surgical treatment has traditionally been used to manage subependymal giant cells astrocytomas (SEGA). The introduction of mTOR inhibitor rapamycin, with its definite role both as primary and as adjuvant treatment, has significantly modified the management opportunities in the clinical practice. It is important to consider both treatment options in a balanced way and not only the SEGA, but also the individual patient and their associated comorbidities. The pros and the cons of both options should be discussed by a multidisciplinary team before establishing an individualized treatment recommendation. The paper reports the case of a patient with an asymptomatic SEGA who was treated with everolimus. The treatment was effective in reducing the size of the tumour, it was safe and well tolerated.

Asparagine synthetase deficiency is a rare autosomal recessive neurometabolic disorder caused by mutations in the asparagine synthetase gene. It is characterized by congenital microcephaly, intellectual disability, progressive cerebral atrophy, and intractable seizures. A decrease in asparagine in CSF or plasma guides subsequent investigations in some cases, but normal values are described in other cases. Therefore, reaching a diagnosis is challenging and relies on exome sequencing. We report the case of a child with progressive microcephaly, irritability, startle reflexes, and jitteriness since birth. Focal clonic and myoclonic seizures, status epilepticus, and infantile spasms appeared in the first months of life. At first, the EEG showed multifocal epileptic activity which later turned into modified hypsarrhythmia and discontinuous activity. Brain MRI showed brain atrophy, a simplified gyral pattern, and poor myelination. Plasma asparagine levels were normal. Due to remote parental consanguinity, a study of contiguous regions of runs of homozygosity was performed, showing a 5‐Mb region (chr7:95629078–100679007) including the asparagine synthetase gene. The molecular analysis of this gene led to identification of a novel homozygous missense mutation, c.761G>T(p.Gly254Val), in our patient. The peculiar electroclinical phenotype may lead to diagnostic suspicion and molecular analysis which may benefit genetic counselling. [ Published with video sequence ].