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The forkhead box G1 (FOXG1) gene encodes a brain-specific transcription factor and is associated with a congenital variant of atypical Rett syndrome (RTT); several FOXG1 mutations have been identified. The congenital variant of RTT shows a hypoplastic corpus callosum, delayed myelination, and frontal and temporal atrophy. Although no report has described a hippocampal abnormality in humans, the current study suggests that FOXG1 also regulates neurogenesis in the postnatal hippocampus. In the present case, severe developmental delay was observed in a patient with a congenital variant of RTT from about 4months, in conjunction with acquired microcephaly, hypotonia, limited motor function, absent purposeful hand use, and repetitive jerky movements of the upper limbs. A novel missense mutation was identified in FOXG1 on gene analysis (c. 569T>A, p. Ile190Asn). The patient showed not only the typical cerebral abnormalities of a congenital variant of RTT, but also a hypoplastic hippocampus. This novel mutation and cerebral findings may provide new insights into the pathophysiology of the congenital variant of RTT.

BackgroundMeasured unbound bilirubin concentration is influenced by bilirubin photoisomers. Bilirubin photoisomers are produced even with only a slight light exposure, and clinical samples are inevitably exposed to light. The objective of the study was to evaluate the influence of bilirubin photoisomers on the measurement of unbound bilirubin using serum of jaundiced neonates during blue light phototherapy.MethodsFive neonates treated with phototherapy for hyperbilirubinaemia were enrolled. The samples were taken 12 h after initiation of phototherapy. Samples were processed by irradiation with blue light, by indoor ceiling light, by both blue light and indoor ceiling light or shaded. Bilirubin subfractions, total bilirubin and unbound bilirubin were measured.ResultsCompared with the non-irradiated samples, the (EZ)-cyclobilirubin concentration and (ZE)-bilirubin/(ZZ)-bilirubin ratio significantly increased in the blue light-irradiated samples, the (ZE)-bilirubin/(ZZ)-bilirubin ratio significantly increased in the indoor ceiling light-irradiated samples, and the (EZ)-cyclobilirubin, (EZ)-bilirubin and (ZE)-bilirubin/(ZZ)-bilirubin ratio significantly increased in the samples irradiated with both lights. No change was noted in unbound bilirubin in any group.ConclusionsWe consider that changes in bilirubin photoisomers induced by light exposure during clinical practice do not influence the measured unbound bilirubin concentration.

Sporadic hemiplegic migraine is rare in childhood. We followed a patient with Tc-ECD (Tc-ethyl cysteinate dimer) SPECT and magnetic resonance angiography (MRA). At the age of 8 years, he developed left hemiplegia. The MRA showed vasoconstriction of the posterior right middle cerebral artery. Hemiplegia disappeared in a few hours, and the MRA normalized. At the age of 10 years, right hemiplegia was observed, disappearing completely after a few days. During this second migraine attack, MRA demonstrated left middle cerebral artery vasoconstriction, and SPECT revealed decreased left hemisphere blood flow. Findings normalized as the patient recovered.