mastocytosis/癲癇性発作

We report on 9 cases of systemic mastocytosis which underline the frequency and the potential severity of this disease. All patients had intercritical signs (usually urticaria). Seven patients had also typical crises with flush and vascular collapses are observed together, doctors should measure

A comatose patient arrived at the emergency room with apnea and in shock after a grand mal seizure. A maculopapular rash, not initially observed, led to a diagnosis of cutaneous mastocytosis. Degranulation of the mast cells with massive histamine release had resulted in cardiovascular collapse. The

Narcolepsy is the most well-characterized hypersomnia in both clinical and basic research fields. Narcolepsy is caused by degeneration of hypocretin-producing neurons in the hypothalamus. Although hypocretin receptor antagonists have been developed as sleep-inducing drugs, a high dose of suvorexant,

Service dogs are beneficial in providing assistance to people with multiple types of disabilities and medical disorders including visual impairment, physical disabilities, seizure disorders, diabetes, and mental illness. Some service animals have been trained as a screening tool for cancer. We

KIAA2022 is an X-linked intellectual disability (XLID) syndrome affecting males more severely than females. Few males with KIAA2022 variants and XLID have been reported. We present a clinical report of two unrelated males, with two nonsense KIAA2022 pathogenic variants, with profound intellectual