A Child with a c.6923_6928dup (p.Arg2308_Met2309dup) SPTAN1 Mutation Associated with a Severe Early Infantile Epileptic Encephalopathy.

Early infantile epileptic encephalopathies (EIEEs) are a group of neurological disorders characterized by early-onset refractory seizures, severe electroencephalographic abnormalities, and developmental delay or intellectual disability. Recently, genetic studies have indicated that a significant portion of previously cryptogenic EIEEs are single-gene disorders. SPTAN1 is among the genes whose mutations are associated with EIEE development (OMIM# 613477). Here, a case of the c.6923_6928dup (p.Arg2308_Met2309dup) SPTAN1 mutation associated with a severe EIEE is reported. This case shows that mutations in the α20 repeat in the C-terminal of αII spectrin can be associated with EIEE. Duplication seems essential to cause EIEE. This causation is not demonstrated for amino acid deletions in the same spectrin residues. Reportedly, children with p.(Asp2303_Leu2305del) and p.(Gln2304_Gly2306del) deletions have childhood-onset epilepsy and no or marginal magnetic resonance imaging abnormalities, suggesting that not only the location but also the type of mutation plays a role in conditioning nervous system damage. Further studies are needed for a better understanding of the phenotype/genotype correlation in SPTAN1-related encephalopathies.

Chondrosarcoma of the larynx: presentation of a case and review of the literature.

Chondrosarcoma of the larynx is a rare tumor of the upper respiratory tract that originates from cartilaginous tissue. The cricoid cartilage is the most frequent site of onset at the larynx. The diagnosis is not always easy, given the tumor's slow growth rate, the aspecificity of the symptoms, and the low degree of malignancy with which most cases present and which often causes it to be mistaken for a chondroma. A case is presented of a 61-year-old woman with a chondrosarcoma of the larynx, grade 2, originating from the cricoid cartilage and measuring about 3 cm in diameter. The patient underwent extirpation of the tumor together with the cricoid cartilage, with a successive thyrotracheal anastomosis because she refused a total laryngectomy, which would have been the indicated intervention on the basis of the extent and grade of the neoplasm. At 6 years from surgery, the patient is in a good state of health with good laryngeal function and without recurrence of the disease. This fact confirms that the surgical approach to chondrosarcoma of the larynx can in most cases be conservative, reserving demolitive surgery for the more aggressive forms, for tumors of greater extent, and for recurrences. In fact, good laryngeal function and therefore a good quality of life can be maintained even for long periods of time.