Video-EEG study in an adult and a child with eyelid myoclonia with absences.

Two patients with eyelid myoclonia with absences (EMA) are described. Videotape of the eyelid myoclonia in one patient is presented. An interesting feature in one patient was the induction of clinical seizures only with daylight, and in another the presence of rare, focal, epileptiform discharges during drowsiness. Valproic acid only partially controlled eyelid myoclonia in both cases. Lamotrigine, alone or in combination with valproate, can be used as an alternative but was ineffective in our cases. [Published with video sequences].     

Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in the TSC1 or TSC2 genes. The TSC1 and TSC2 gene products, TSC1 and TSC2, form a complex that inhibits the mammalian target of rapamycin (mTOR) complex 1 (TORC1). Here, we investigate the effects of 78 TSC2 variants identified in individuals suspected of TSC, on the function of the TSC1–TSC2 complex. According to our functional assessment, 40 variants disrupted the TSC1–TSC2‐dependent inhibition of TORC1. We classified 34 of these as pathogenic, three as probably pathogenic and three as possibly pathogenic. In one case, a likely effect on splicing as well as an effect on function was noted. In 15 cases, our functional assessment did not agree with the predictions of the SIFT amino acid substitution analysis software. Our data support the notion that different, nonterminating TSC2 mutations can have distinct effects on TSC1–TSC2 function, and therefore, on TSC pathology.     

Bilateral periodic lateralized epileptiform discharges in Mycoplasma encephalitis.

Status epilepticus and prolonged coma developed in two patients with respiratory tract infections caused by Mycoplasma pneumoniae. Serial electroencephalography initially revealed bilateral, independent, periodic, lateralized epileptiform discharges. This pattern was replaced several days later by other electroencephalographic abnormalities.     

Problems posed by the association of hemophilia A and congenital adrenal hyperplasia caused by 21-hydroxylase deficiency

Association of congenital adrenal hyperplasia (21 hydroxylase deficiency) and hemophilia A in one child is reported; the authors insist about the rarity and the genetic implications of this association in case of other children.     

Longterm pH measurement in the diagnosis of gastroesophageal reflux in children. Apropos of 20 cases

Long duration continuous recording of esophageal pH was performed in 20 children suspected of having gastroesophageal reflux. Six pH monitoring parameters were analysed and their values compared with normal standards found in the literature. The results of pH monitoring were compared with those of upper gastrointestinal series and with oesophagoscopy, performed in all patients but one. The diagnostic utility of long duration pH monitoring is discussed, according to data in the literature.