Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder of the autonomic nervous system (ANS) and respiratory control. This disorder, formerly referred to as Ondine’s curse, is due to a mutation in the PHOX2B gene that affects the development of the neural crest cells. CCHS has an autosomal dominant pattern of inheritance. Majority of the patients have a polyalanine repeat mutation (PARM) of the PHOX2B, while a small group has non-PARM (NPARM). Knowledge of the patient’s PHOX2B gene mutation helps predict a patient’s clinical presentation and outcome and aids in anticipatory management of the respiratory and ANS dysfunction.

Escherichia coli strain LE316 contains a mutation in gyrB that results in the substitution of Val164 to Gly and confers both chlorobiocin resistance and temperature sensitivity. Selection for suppressors of the ts phenotype yielded second-site mutations in GyrB at His38 and Thr157. The properties of proteins bearing these mutations have been characterized, and a mechanism of suppression is proposed based upon structural considerations.

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Introduction:Eventration of diaphragm is a congenital anomaly that results from a failure of muscular development of part or all of the hemidiaphragm. Clinically, eventration of diaphragm refers to an abnormal elevation of an intact diaphragm. In some cases, it may be difficult to distinguish it from congenital diaphragmatic hernia (CDH). Case Presentation:A three-week-old male, born prematurely at 30 weeks GA, who was weaned off respiratory support on the first DOL, developed respiratory distress. A chest X-ray obtained at that time when compared with the one from DOL#1 showed a new right lower lobe (RLL) opacity, suggestive of lobar atelectasis. Chest MRI revealed the "atelectatic" RLL to be the liver, raising the suspicion for CDH. Thoracoscopic evaluation revealed instead a diaphragmatic eventration, for which a plication procedure was performed.Discussion: Respiratory distress is the most common clinical manifestation of CDH and diaphragmatic eventration. As in the case of CDH, diaphragmatic eventration can be associated with various degrees of pulmonary hypoplasia due to the compression of the developing lung by the abdominal viscera. The degree of pulmonary hypoplasia and respiratory distress vary depending upon the size of the defect. Patients may be asymptomatic with small localized defects, whereas large defects in neonates can cause respiratory distress. Conclusion:Symptoms of diaphragmatic eventration can be misleading, becoming a diagnostic dilemma despite a proper evaluation. Eventration must be considered in the differential diagnosis of a newborn with respiratory symptoms and a new CXR image suggestive of lower lobe infiltrate.

Children can exhibit a plethora of strange movements during sleep. Asymptomatic rhythmic movements of the head, neck, and trunk can be normal. When these interfere with sleep or cause self-injury, it is pathologic and termed rhythmic movement disorder.