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. At five months of age, she visited our hospital due to developmental delay. An EEG showed multiple epileptic discharge, and a nerve conduction study showed severe axonopathy of both motor and sensory nerves. We performed exome sequencing and identified a de novo heterozygous missense variant in KIF1A (NM_001244008.1: c. 757G > A, p.E253K). At six months of age, she developed acute encephalopathy, multiple organ failure and disseminated intravascular coagulation, necessitating intensive care. Her brain CT showed severe brain edema, followed by profound brain atrophy. We diagnosed hemorrhagic shock and encephalopathy syndrome (HSES) according to the clinico-radiological features. Currently, she is bed-ridden, and requires gastrostomy because of dysphagia. CONCLUSION: The clinical course of our case confirmed that p.E253K is associated with severe neurological features. Severe KIF1A deficiency could cause thermoregulatory dysfunction and may increase the risk of acute encephalopathy including HSES.

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. When she was admitted to our hospital she had a tense vesicle on her lower lip. A skin biopsy was taken from the vesicle. A blister containing neutrophils and erythrocytes was present in the mucous epithelium. There was a dermal infiltrate comprising neutrophils, mononuclear lymphocytic cells and eosinophils. Dilated salivary gland excretory ducts were seen in the lamina propria mucosae. Eosinophilic and amorphous materials, which were periodic acid-Schiff positive after digestion with diastase, and alcian blue positive, were deposited in the blister. Direct immunofluorescence was negative for immunoglobulin (Ig)G, IgM, IgA, C1q, C3 and C4. These histological findings led us to make a diagnosis of superficial mucoceles.

[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. METHODS AND SUBJECTS: We practiced 1) specific IgE of pollens and foods, 2) prick tests of spices and apiaceae vesitables, 3) immunoblot of spices, against two cases suspected spice allergy from their clinical courses. Clinically Case 1 32 y.o. male had been no history of pollinosis, in contrast Case 2 46 y.o. female had been suffered from pollinosis during spring and autumn seasons. RESULTS: In Case 1 the scores of specific IgE of pollens were almost negative and immunoblot examination of spices revealed positive reaction at the site of 10 approximately 12 kDa and 60 kDa. In Case 2 the scores of specific IgE of pollens were positive in many species and immunoblot examination of spices reacted positively at the site of 14 kDa and 60 kDa. Both of them showed positive reactions against many kinds of apiaceae spices in prick tests, so we diagnosed them as apiaceae spice allergy. CONCLUSION: According to these results we suspected Case 1 as class 1 allergy induced by the sensitization of spices themselves and Case 2 as class 2 allergy caused by the cross reactions with pollinosis. So there may be some different mechanisms in the occurrence of spice allergy. In the future the occurrence of spice allergy will be supposed to increase and it will be necessary for us to pay much more attention to spice allergy even in Japan.