This rare disease is characterized by episodic weakness, cardiac arrhythmias, and dysmorphic features (short stature, scoliosis, clinodactyly, hypertelorism, small or prominent low-set ears, micrognathia, and broad forehead). The cardiac arrhythmias are potentially serious and life threatening. They include long QT, ventricular ectopy, bidirectional ventricular arrhythmias, and tachycardia. For many years, the classification of this disorder was uncertain because episodes of weakness are associated with elevated, normal, or reduced levels of potassium during an attack. In addition, the potassium levels differ among kindreds but are consistent within a family. Inheritance is autosomal dominant, with incomplete penetrance and variable expressivity. The disease is caused by mutations of the inwardly rectifying potassium channel (Kir 2.1) gene that heighten muscle cell excitability. The treatment is similar to that for other forms of periodic paralysis and must include cardiac monitoring. The episodes of weakness may differ between patients because of potassium variability. Acetazolamide may decrease the attack frequency and severity.
Source:Harrison’s Principles of Internal Medicine, 19e
Cornelia de Lange syndrome (CdLS) is a syndrome of multiple congenital anomalies characterized by a distinctive facial appearance, prenatal and postnatal growth deficiency, feeding difficulties, psychomotor delay, behavioral problems, and associated malformations that mainly involve the upper extremities. Cornelia de Lange first described it as a distinct syndrome in 1933, although Brachmann had described a child with similar features in 1916. Diagnosing classic cases of Cornelia de Lange syndrome is usually straightforward; however, diagnosing mild cases may be challenging, even for an experienced clinician.
Turritopsis dohrnii, the immortal jellyfish, is a species of small, biologically immortal jellyfish found in the Mediterranean Sea and in the waters of Japan. It is the only known case of an animal capable of reverting completely to a sexually immature, colonial stage after having reached sexual maturity as a solitary individual.
Mirror-touch synesthesia is a condition which causes individuals to experience the same sensation (such as touch) that another person feels. For example, if someone with this condition were to observe someone touching their cheek, they would feel the same sensation on their own cheek. Synesthesia, in general, is described as a condition in which a stimulus causes an individual to experience an additional sensation. Synesthesia is usually a developmental condition, however recent research has shown that mirror touch synesthesia can be acquired after sensory loss after amputation.
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