PRRT2 mutations and paroxysmal disorders

In the past year, mutations in the PRRT2 gene have been identified in patients with paroxysmal kinesigenic dyskinesia and other paroxysmal disorders. We conducted a review of the literature on PRRT2 mutation‐associated disorders. Our objectives were to describe the wide clinical spectrum associated with PRRT2 mutations, and to present the current hypotheses on the underlying pathophysiology. PRRT2 mutations are associated with a wide range of clinical syndromes: the various paroxysmal dyskinesias, infantile seizures, paroxysmal torticollis, migraine, hemiplegic migraine, episodic ataxia and even intellectual disability in the homozygous state. The PRRT2 protein, through its interaction with SNAP‐25, could play a role in synaptic regulation in the cortex and the basal ganglia. The pathogenesis may be caused by PRRT2 loss of function, which may induce synaptic deregulation and neuronal hyperexcitability. However, this does not explain the phenotypic variability, which is likely modulated by environmental factors, modifier genes or age‐dependent expression. The clinical spectrum of PRRT2 mutations has expanded among paroxysmal disorders and beyond. Unraveling the molecular pathways linking the genetic defect to its clinical expression will be crucial for the diagnosis and treatment of these disorders.     

Rare association of central pontine myelinolysis with infantile tremor syndrome

Central pontine myelinolysis (CPM) is an acute demyelination within the central basis pontis. Though exact mechanism is not known it is seen commonly with rapid correction of hyponatremia and also with pontine ischemia or infarction, demyelinating diseases, pontine neoplasm and different metabolic diseases. We report a rare association of CPM in a patient of Infantile Tremor Syndrom (ITS). ITS is a syndrome of tremor, mental and physical retardation, pigmentary changes of hair and skin and anemia in malnourished children. Though first reported in Indian subcontinent many identical cases were reported from around the world. Our case is a 15 month old child with generalized tremor, mild hepatosplenomegaly with features of grade II malnutrition including skin and hair changes. All the signs and symtoms of tremor improved after treatment with the World Health Organization (WHO) protocol for protein energy malnutrition (PEM) and administration of propranolol without any side effects.     

Febrile convulsions increase risk of Tourette syndrome

PurposeFebrile convulsion (FC) and Tourette syndrome (TS) are both common neurological disorders in infants and children. Both disorders share clinical similarities, such as paroxysmal symptoms with normal neurodevelopment and expected remission over time. This population-based study investigated the association between FC with TS during childhood neurodevelopment.MethodWe used the Taiwan National Health Insurance Research Database to conduct a retrospective cohort analysis on 1586 FC patients. A reference cohort of 6344 non-FC patients, matched for age, sex, urbanization level, parental occupation, and index year, was used for comparison. The risk of the occurrence of TS in FC patients was assessed using a Cox proportional hazard regression model.ResultsThe overall incidence of TS was higher in the FC cohort than in the non-FC cohort (28.5 vs 13.9 per 10,000 person-years; adjusted hazard ratio = 1.91, 95% confidence interval = 1.32–2.75). The associated risk factors for FC patients to develop TS were boys, children living in rural areas, and children whose parents held blue-collar positions. Moreover, the risk of TS in FC patients rose from 0.89 to 16.0 (trend test P < 0.0001) when the frequency of FC-related medical visits increased from 1 to 2 times to more than 4 times. The adjusted hazard ratio for TS in related to FC-related medical visits was 1.02 (95% CI = 1.02–1.03) per one frequency increment.ConclusionFC may increase the risk of subsequent TS occurrence in children. Children who had frequent medical visits for FC were particularly vulnerable.     

Pharmacological approaches to restoring lens transparency: Real world applications

Cataract is the most common cause of blindness and a major cause of visual impairment worldwide. As the world’s population ages, cataract-induced visual impairment is of increasing prevalence, and treatment is limited to those with access to surgical care. While cataracts are mainly a disease of the elderly, infantile cataracts lead to lifelong visual impairment if untreated. Even in those with surgical treatment early in life, visual prognosis is often guarded. Consequently, there is an increasing impetus for alternative therapeutic modalities. Makley and Zhao utilize two different experimental approaches to identify novel pharmacological substances able to improve lens transparency by reducing aggregation of crystalline proteins. These data support an alternative to surgical correction that may be applied to adult patients without access to surgical care as well as address the unique challenges of infantile cataracts.     

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??Abstract??Wheeze is a common symptom in infants and pre-school children characterized by chronic inflammation of the airway. The management of infantile wheeze focuses on anti-inflammatory agents including corticosteroids?? bronchodilators?? leukotriene receptor antagonists?? antihistamine drugs and macrolides. Here we reviewed the current medications of infantile wheeze and propose a de-escalation combined therapy based on our long-term practice.     

Transcatheter Arterial Sclerosing Embolization for the Treatment of Giant Propranolol-Resistant Infantile Hemangiomas in the Parotid Region

PurposeTo report the effectiveness and safety of transcatheter arterial sclerosing embolization (TASE) for the treatment of parotid infantile hemangiomas that did not respond appreciably to propranolol.Materials and MethodsA total of 21 infants (12 male and 9 female) with large propranolol-resistant infantile hemangiomas in the parotid region were enrolled in this study. During TASE, the feeding arteries of the lesions were embolized using pingyangmycin-lipiodol emulsion and polyvinyl alcohol particles (300–500 μm) to reduce the blood flow rate. All children were followed up as outpatients at 2 weeks and monthly thereafter. The curative effect was evaluated at the 1- and 3-month follow-up visits.ResultsNine lesions were located on the right side of the parotid gland, whereas 12 were located on the left side. The feeding arteries in all patients originated from branches of the external carotid artery. TASE was technically successful in all patients. The mean (± SD) maximal diameter of the hemangiomas significantly decreased from 6.50 cm ± 2.28 before treatment to 3.56 cm ± 1.84 at 1 month after TASE (P <. 05). Three months after TASE, the mean maximal diameter further significantly decreased to 1.94 cm ± 1.58 (P <. 05). During the follow-up period, 16 cases were rated as excellent and 5 as good; no recurrence or serious complications were noted. Minor side effects, such as slight pain, mild fever, and tissue swelling, were observed.ConclusionsTASE significantly decreased the size of the parotid hemangiomas with minor side effects during a short follow-up period.     

短期去乳糖奶粉喂养方法对新生儿腹泻的效果

目的：探讨短期去乳糖奶粉喂养方法对新生儿腹泻的效果。方法选取2013年3月—2014年2月腹泻患儿140例，按随机数字表法随机分为观察组和对照组各70例，观察组采用短期去乳糖奶粉喂养，对照组采用长期去乳糖奶粉喂养。比较两组患儿治疗效果、胃肠道症状、体质量增长与喂养耐受情况。结果观察组患儿痊愈51例，有效17例，无效2例；对照组痊愈47例，有效20例，无效3例，差异无统计学意义（Z＝0．758，P＝0．366）。观察组患儿平均体质量增长（34．30±7．35）g／（kg· d），平均摄入奶量（105．37±24．02）ml／（kg· d），优于对照组的（24．29±8．06）g／（kg· d），（97．21±21．66）ml／（kg· d），差异有统计学意义（t值分别为2．809，3．161；P＜0．05）。观察组排便次数、呕吐、腹胀、胃潴留发生例数均少于对照组，差异有统计学意义（P＜0．05）。结论腹泻新生儿采取短期去乳糖奶粉喂养方式既符合婴幼儿的生长发育特点，又可以维持其免疫功能的平衡，且经济实惠，值得在临床推广。