Treatment of hyperinsulinaemic hypoglycaemia with nifedipine

We report on two children with mild persistent hyperinsulinaemic hypoglycaemia. In both, oral nifedipine treatment (0.7 and 2.0 mg/kg per day respectively) had a significant clinical effect. In one case, nifedipine monotherapy prevented hypoglycaemia; in the second case, the dosage and the side-effects of other substances could be reduced, thus circumventing surgical therapy. Conclusion Nifedipine treatment has a favourable effect on the clinical course of patients with mild hyperinsulinism. It represents a valuable new substance for the treatment of this disorder. Received: 3 March 1998 / Accepted: 3 August 1998     

Nesidioblastosis in infants: report of two cases and review of the literature

In the last 2 years, two newborns were found to have persistent hypoglycaemia due to nesidioblastosis. Both required more than 15 mg/kg/min IV glucose and had inappropriately high plasma insulin levels. Near-total pancreatectomy (NTP) with splenic conservation was curative in both, with negligible morbidity and no mortality. Prompt diagnosis and stringent control of plasma glucose with hourly monitoring in an intensive care unit, use of a central venous line, and oral diazoxide prevented subsequent neurological handicaps. A high index of suspicion for this rare disorder should be kept in mind in a chubby infant who is jittery, apathetic, and has seizures with hypoglycaemia. Medical management is required to confirm the nonketotic, hyperinsulinaemic hypoglycaemia, whereas NTP provides a long-term cure. Offprint requests to: M. Roohatgi     

Persistent hyperinsulinemic hypoglycemia of infancy--successful therapy with nifedipine

Recent studies have demonstrated a role for calcium channel blocking agents in the treatment of persistent hyperinsulinemic hypoglycemia of infancy. We report a 30 day old infant with PHHI whom we successfully treated with oral nifedipine alone.     

Histochemical,clinical, and in vitro β cell responses in a neonate with persistent hyperinsulinaemic hypoglycaemia of infancy

When treatment with diazoxide and somatostatin for persistent hyperinsulinaemic hypoglycaemia of infancy failed, subtotal pancreatectomy was performed on a neonate on day 41. The pancreatic tissue was saved and used for immunohistochemical and cell culture studies. The initial immunohistochemistry of β cells for insulin was negative, using a 1 in 200 dilution of insulin antiserum, but positive results were obtained with an increased concentration of the antiserum.
The insulin to somatostatin cell ratio in islets of Langerhans was about 1:1, with no somatostatin cells outside the islets. Glucose stimulated insulin secretion in a concentration dependent manner in vitro. Isobutyl methyl xanthine doubled insulin secretion, but lithium had no effect. The glucose stimulated insulin secretion was inhibited by somatostatin, epinephrine, and in the absence of Ca²⁺.
In view of the normal in vitro responses of β cells to various secretory analogues, the lack of responsiveness to somatostatin analogue before pancreatectomy may not have been due to deficiency or resistance to somatostatin, but to β cell hyperplasia overwhelming the paracrine regulatory mechanism(s).

     

Persistent effects of a pedagogical device targeted at prevention of severe hypoglycaemia: a randomized, controlled study

AIM: To study the long-term use of self-study material in type 1 diabetes patient education targeted at the prevention of severe hypoglycaemia. METHODS: Randomized 1:1:1 control study in three local hospitals. We studied 332 type 1 diabetes patients from the geographic population, aged 2.6-18.9 y at entry. The intervention group received a videotape and brochure in which interviewed patients, parents and medical experts reviewed in detail practical skills for self-control and treatment, with the aim of preventing severe hypoglycaemia. There were two control groups: one received a videotape and brochure with general diabetes information and the other only traditional treatment. Primary endpoints were severe hypoglycaemia needing assistance by another person and HbA1c. Dissemination, reading/viewing level, patients' attitudes and extra contact with caregivers were also investigated. At 24 mo, 249 subjects provided data. RESULTS: The yearly incidence of severe hypoglycaemia decreased at 24 mo from 42% to 25% (difference 17%, 95% CI 3-31, p = 0.0241) in the intervention group, but not in controls. HbA1c remained unchanged. Video use during months 13-24 was higher in the intervention group than in controls (p = 0.0477), ranging from 1-15 (median 2) times, among 37% of patients (months 1-12, 100%). Higher future use was anticipated for intervention material (p = 0.0003). Extra caregiver contact was related to severe hypoglycaemia (p = 0.0009). The cost of the material was 相似文献   

婴儿持续性高胰岛素血症性低血糖症12例临床分析

目的：探讨婴儿持续性高胰岛素血症性低血糖症（PHHI）的早期诊断和治疗问题。方法：回顾性分析12例PHHI患儿的临床资料。结果：12例患儿临床表现除抽搐外,尚有发绀、嗜睡、拒奶、易激惹、出冷汗等,实验室检查有持续性低血糖和高胰岛素血症,胰高血糖素试验阳性,尿酮阴性。7例给予二氮嗪治疗(每天5~15 mg/kg),4例治疗有效。1例行胰腺次全切除术,术后血糖正常。6例随访有精神运动发育迟缓等后遗症,3例失访,3例正在随访中。结论：PHHI可通过血糖监测、血胰岛素和尿酮检查做出早期诊断,部分患儿二氮嗪治疗有效。［中国当代儿科杂志,2009,11（10）：809-812］     

Long-term treatment of persistent hyperinsulinaemic hypoglycaemia of infancy with diazoxide: a retrospective review of 77 cases and analysis of efficacy-predicting criteria

Primary persistent hyperinsulinaemic hypoglycaemia of infancy is rare. Diazoxide treatment remains the mainstay of medical therapy in long-term management. We reviewed 77 cases of primary persistent hyperinsulinism in neonates and infants who were treated with diazoxide and studied criteria predictive of therapeutic efficacy. The only criterion identified was age at manifestation. All but 1 of the 31 neonatal cases were unresponsive to diazoxide. Responsiveness increased with age: 12 of 39 early-infantile cases, and all seven late-infantile cases were diazoxide-responsive. In responders, a diazoxide dose of 10–15 mg/kg per day was always effective, suggesting an “all or none” response. Diazoxide-resistant hyperinsulinism is characterized by its severity with higher plasma insulin levels. The analysis of 46 surgically treated patients showed that the efficacy of diazoxide is not related to the aetiology of the pancreatic lesions. In six cases, after many years of management, diazoxide treatment was stopped without recurrence of hypoglycaemia. Conclusion Diazoxide is an efficient treatment in the long-term management of most persistent hyperinsulinaemic hypoglycaemia of infancy revealed in infants and children but is usually ineffective in neonatal forms. Drug efficacy does not correlate with anatomical lesions. Medical treatment can sometimes be stopped after many years of management without recurrence of disease manifestations. Received: 29 April 1997 / Accepted: 9 February 1998     

Benign paroxysmal migraine variants of infancy and childhood: Transitions and clinical features

Introduction

Migraine variant disorders of childhood include benign paroxysmal torticollis of infancy (BPTI) and benign paroxysmal vertigo of childhood (BPVC). This study aimed to review our experience with BPTI and BPVC and determine the incidence of children transitioning between each of these disorders and to vestibular migraine (VM).

Anomalous left coronary artery from the main pulmonary trunk: Physiologic and clinical importance of its association with persistent ductus arteriosus

Summary Anomalous left coronary artery (ALCA) from the pulmonary trunk presents in early infancy with a clinical picture of failure to thrive, congestive heart failure (CHF), anginalike episodes, and mitral insufficiency. These manifestations which are due to myocardial ischemia may change in the presence of an associated lesion. We present a case and review two previous reports of a patent ductus arteriosus (PDA) associated with this anomaly. Although signs and symptoms are not as clear due to the less impaired coronary perfusion and the presence of a PDA, the presence of mitral insufficiency should raise the possibility of an anomalous coronary artery and, therefore, a cardiac catheterization and angiocardiography are recommended in anticipation of reparative surgery.     

Transient hypogammaglobulinemia of infancy: Clinical and immunologic features of 40 new cases

BACKGROUND: Transient hypogammaglobulinemia of infancy (THI) results from a delay in the maturation of immunoglobulin production. METHODS: The clinical and immunologic data of 40 patients with THI are presented. Clinically, the majority of patients presented with recurrent respiratory infections and otitis media, bronchitis and/or bronchial asthma and recurrent gastroenteritis. RESULTS: Ten of 40 children had isolated low IgG; isolated low IgA and isolated low IgM were detected in one and three patients, respectively. At initial evaluation, levels of all three immunoglobluins were low in nine patients. Ten patients had diminished IgG and IgA levels, six had diminished IgA and IgM levels and one had low IgG and IgM levels. Two patients were given intravenous immunoglobulin replacement therapy for 1 year. None of the patients has experienced serious infections during their follow-up period. CONCLUSIONS: Prospective evaluation of patients (age range 5-60 months) revealed that immunoglobulin levels in 33 patients recovered before 36 months of age. Seven patients still had low immunoglobluin levels at 40-57 months of age. Three of these patients had low levels of both IgG and IgA, while two patients had low IgM levels and a further two patients had low IgA levels.     

Benign convulsions in newborns and infants: Occurrence, clinical course and prognosis

Background

During early development severe epilepsies may appear, some with well established occurrence. Benign non-epileptic and epileptic paroxysmal syndromes with excellent prognosis occur in the same period. There are no exact data on their occurrence.

Aim

We have reviewed medical histories of children with benign non-epileptic or benign epileptic events: benign myoclonus of early infancy, benign neonatal sleep myoclonus, benign sleep myoclonus in infancy, benign partial epilepsy in infancy (BPEI) and benign infantile familial convulsions (BIFC) were established. The occurrence, clinical characteristics and prognosis of these syndromes were evaluated.

Methods

Inclusion criteria were met in 31 children. Research included retrospective analysis of clinical characteristics, laboratory values, neuroimaging and neurophysiological assessments, followed by evaluation of psychosocial development with the use of the Strengths and Difficulties Questionnaire (SDQ), fulfilled by parents.

Results

In our group the incidence of benign non-epileptic convulsions was 6.69 per 10 000 live births and the incidence of benign epileptic convulsions was 1.35 per 10 000. Male/female ratio in the group of children with non-epileptic events was 2.1:1. Among non-epileptic group 5 out of 23 children and among epileptic group 3 out of 8 children had minimal, mild or moderate abnormalities at neurological assessment at the time of the first clinical examination. Nonspecific changes in laboratory values were seen in 6 out of 23 in the non-epileptic and in 1 out of 8 children in the epileptic group. Neurophysiological assessments showed subtle changes in 4/23 in the non-epileptic and 6/8 in the epileptic group. Neuroimaging was not optimal in 5/23 with non-epileptic and 3/8 with epileptic events. Analysis of SDQ did not show significant deviations in psyhosocial development. Statistically significant deviation was observed only in relations with peers (p = 0.009).

Conclusions

Benign neonatal and infantile convulsions are more frequent than severe epilepsies of the same age period. Results show higher proportion of males with benign non-epileptic conditions. No deviations in further development was found. Laboratory values, neuroimaging and neurophysiological assessments were normal or nonspecifically changed.     

干扰素基因刺激蛋白相关婴儿期发病血管病变1例并文献复习

目的 探讨干扰素基因刺激蛋白(STING)相关婴儿期发病血管病变(SAVI)的临床特点、诊断和治疗。方法 对1例SAVI患儿的临床表型及基因型进行分析,并通过复习相关文献,分析和总结有关国内外SAVI的文献报道,总结SAVI的临床特征及遗传学特点。结果 男,11岁4个月,为反复呼吸道感染、咳嗽、活动耐力下降,查体可见杵状指(趾),实验室检查提示ESR异常升高、ANA及抗心磷脂抗体阳性,肺部高分辨CT提示间质性病变。全外显子测序提示患儿TMEM173基因新生杂合突变:c.463G>A,p.V155M。予托法替尼(每次5 mg,每天2次)治疗有效。文献复习目前国内外已报道SAVI病例31例(包括本文1例),SAVI男性多发,以婴幼儿为主。首发症状以皮疹(58.0%)、呼吸急促(41.9%)及活动受限(48.3%)为主。实验室检查64.5%伴有ESR增快或CRP升高,64.5%出现自身抗体阳性。70.9%患儿肺部影像学提示为间质性肺炎改变。基因检查可明确诊断,SAVI相关的基因突变位于第5号染色体上的TMEM173基因,74.1%为新发突变。Janus激酶抑制剂治疗有效。结论 SAVI为一种罕见的自身炎症性疾病,为TMEM173基因变异,临床上以活动耐力下降、生长受限及间质性肺疾病为主要表现。Janus激酶抑制剂对该病治疗有效。     

Persistent fetal circulation: An evolving clinical and radiographic concept of pulmonary hypertension of the newborn

The roentgenographic presentations of 11 newborn infants with hypoxemia secondary to pulmonary vasospasm and subsequent right-to-left shunting of blood through the foramen ovale and/or ductus arteriosus (persistent fetal circulation) are described (P. F. C. Syndrome). One infant had radiographically normal lungs, while ten had pulmonary parenchymal abnormalities including hyaline membrane disease [4], meconium aspiration syndrome [4], or an ill defined pattern of retained lung fluid [2]. The roentgenographic appearance of the lungs, however, was discordant with the severe hypoxemia observed in most. Heart size was variable but some degree of cardiomegaly was commonly present. Tolazoline, a potent vasodilator, was useful diagnostically and may have resulted in increased survival. An expanded clinical and roentgenographic concept of the PFC syndrome is suggested.Presented in part at The Annual Meeting of the Society for Pediatric Radiology, Atlanta, Georgia, September, 1975, and at the 13th Meeting of the European Society of Pediatric Radiology, Stockholm, Sweden, May 21, 1976     

干扰素基因刺激蛋白相关婴儿期发病血管病变1例并文献复习

目的 探讨干扰素基因刺激蛋白(STING)相关婴儿期发病血管病变(SAVI)的临床特点、诊断和治疗。方法 对1例SAVI患儿的临床表型及基因型进行分析,并通过复习相关文献,分析和总结有关国内外SAVI的文献报道,总结SAVI的临床特征及遗传学特点。结果 男,11岁4个月,为反复呼吸道感染、咳嗽、活动耐力下降,查体可见杵状指(趾),实验室检查提示ESR异常升高、ANA及抗心磷脂抗体阳性,肺部高分辨CT提示间质性病变。全外显子测序提示患儿TMEM173基因新生杂合突变:c.463G>A,p.V155M。予托法替尼(每次5 mg,每天2次)治疗有效。文献复习目前国内外已报道SAVI病例31例(包括本文1例),SAVI男性多发,以婴幼儿为主。首发症状以皮疹(58.0%)、呼吸急促(41.9%)及活动受限(48.3%)为主。实验室检查64.5%伴有ESR增快或CRP升高,64.5%出现自身抗体阳性。70.9%患儿肺部影像学提示为间质性肺炎改变。基因检查可明确诊断,SAVI相关的基因突变位于第5号染色体上的TMEM173基因,74.1%为新发突变。Janus激酶抑制剂治疗有效。结论 SAVI为一种罕见的自身炎症性疾病,为TMEM173基因变异,临床上以活动耐力下降、生长受限及间质性肺疾病为主要表现。Janus激酶抑制剂对该病治疗有效。     

Melanotic neuroectodermal tumor of infancy: clinical, radiological, and pathological features

We present a case of a 4-month-old female infant with a maxillary melanotic neuroectodermal tumor of infancy (MNTI) and review the pooled data from previous publications on this entity. The literature to date comprises 378 reported cases from 1918 to the present, from which data on the presence or absence of metastatic disease was available in 311, and on the presence or absence of local recurrence in 165. These pooled data suggest a local recurrence rate of 36% with metastasis occurring in 7% of cases. At present, the optimal management includes complete surgical excision with clear margins, but there are no reliable histopathological or molecular features to predict the biological behavior in individual cases.     

Course and outcome of otitis media in early infancy: a prospective study

We determined the course of otitis media in a prospective, longitudinal study of infants who were enrolled at birth and followed to age 1 year. Bilateral chronic otitis media with effusion developed in eight of 24 (33%) with onset of otitis media before age 2 months, compared to two of 30 (7%) with later onset (P = 0.012). Infants with bilateral chronic otitis media with effusion could be identified early: eight of 15 (53%) infants with bilateral middle ear effusion at age 2 months subsequently had bilateral chronic otitis media with effusion, compared to two of 55 (4%) infants without bilateral effusions at age 2 months (P = 0.000007). The onset of otitis media was symptomatic in 29 of 54 (54%), and asymptomatic in 25 of 54 (46%). If regular well-child examinations with otoscopy had not been performed in asymptomatic infants, bilateral chronic otitis media with effusion would not have been detected in six of 10 infants. Infants with otitis media in early infancy may be asymptomatic and are at high risk for chronic otitis media with effusion.     

Persistent pulmonary hypertension of the newborn treated with hyperventilation: Clinical features and outcome

Abstract Twenty-seven infants with severe persistent pulmonary hypertension of the newborn were seen in 33 months. Asphyxia with or without meconium aspiration was the cause in the majority of cases. Other causes were group B streptococcal sepsis and acute fetal blood loss. The mortality rate was 11%. Twenty-three of the 24 survivors were followed. Their age at follow-up ranged 12–37 months. The mean score for mental development was within the normal range while that for psychomotor development was 1 standard deviation below normal. Seven infants were judged to be at risk of attention deficit disorder. Predictor variables related to these outcomes were cardiotocography, meconium aspiration, first pH, highest P aco₂ after resuscitation and mother's education. All infants except one were perceived as normal by their parents.     

Developmental dysplasia of the hip: Risk markers, clinical screening and outcome

Background: Early detection, diagnosis and treatment of developmental dysplasia/dislocation of hip (DDH) are essential in preventing further disability and quality of life impairment in children. DDH risk markers and association between the age of clinical screening and outcome, were evaluated.
Methods: Clinical screening at ages birth, 6 and 13 weeks was performed in 8145 infants by pediatricians. Infants suspected for DDH were referred to the community hospital clinic for clinical evaluation by a pediatric orthopedic surgeon, imaging procedures and follow up. Demographic and perinatal characteristics of the children with suspected ( n = 77) and diagnosed DDH ( n = 51) were compared to matched controls ( n = 154).
Results: The rate of suspected DDH was 0.95% and that of diagnosed DDH was 0.63%. Female gender, firstborn child and breech presentation were significantly more frequent among cases versus controls (odds ratio [OR]: 4.3, 2.7, and 6 respectively; P < 0.05). The highest positive predictive value (95.5%) in physical evaluation was any evidence of a dislocatable hip. The proportion of DDH among infants referred from the newborn department was significantly higher (OR, 4.4). DDH diagnosis after 6 weeks of age was associated with a higher likelihood of subsequent surgery and motor disability. Untoward outcome was significantly associated with increasing age of referral both at ages of 6 and 13 weeks ( P < 0.05).
Conclusions: Children with DDH have certain specific demographic and perinatal risk markers. Clinical screening targeted towards early diagnosis may lessen the need for surgical intervention and the risk of disability or motor handicap.