Hemorrhagic shock and encephalopathy syndrome in a patient with a de novo heterozygous variant in KIF1A.

Introduction: KIF1A, a gene that encodes a neuron-specific motor protein, plays important roles in cargo transport along neurites. Variants in KIF1A have been described in three different disorders, and neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment syndrome (NESCAVS) is the severest phenotype.

Case Report: A 3-year-old girl was born at term with a birth weight of 2590 g.

[Two cases of apiaceae spice allergy].

Background: Many cases of spice allergy have been reported especially from Scandinavian countries, but in contrast there are few reports in Japan. This time we experienced two cases of apiaceae spice allergy and practiced some kinds of examinations. We report here these two cases with the consideration concerning mechanism of spice allergy.

Case of superficial mucocele of the lower lip.

Superficial mucocele is a relatively rare bullous disease that develops in the oral mucosa. Although the number of reported cases is limited, it seems that the superficial mucocele has been recognized as an independent disease belonging to a single entity. We report a 48-year-old woman who repeatedly developed superficial mucocele in the oral mucosa.