Pediatric bilateral spontaneous pneumothoraces in monozygotic twins

Primary spontaneous pneumothorax from subpleural bleb disease is an uncommon occurrence in pediatric patients. This is a rare case of monozygotic twins presenting at alternating intervals with a single-sided spontaneous pneumothorax, only to have it surgically corrected, and to present later with a subsequent contralateral pneumothorax. A review of familial spontaneous pneumothoraces occurring in children was queried for congenital or genetic syndromes. We concluded that a vast majority of pneumothoraces in children, like adults, are not spontaneous and not familial linked. While they are rare, some congenital syndromes have been identified. The HLA haplotype A2 B40, the gene encoding folliculin, Alph-1-antitrypsin, Marfan's syndrome, Ehlers-Danlos syndrome and Birt-Hogg-Dube syndrome have all been associated with familial spontaneous pneumothoraces. Physicians need to counsel family members to ensure appropriate observation and expedited treatment is not delayed.     

Familial Hemophagocytic Lymphohistiocytosis: Report of Four Cases in Two Families and Review of the Literature

Four cases of familial hemophagocytic lymphohistiocytosis (FHL) from two families with first cousins affected in one family and siblings in another are presented. The pathological findings, including neuropathology, transmission (TEM), and scanning electron microscopy (SEM), are discussed. This is the first study of this condition to include TEM and SEM. One hundred and fifty-nine cases from the literature, including the authors' four cases, are reviewed. The familial occurrence in 116 instances in sibships and consanguinity in 13 of the 73 families support autosomal-recessive inheritance. In five families there were affected first cousins—an observation not readily explained by autosomal-recessive transmission. We suggest that the genetic aspects of PEL be more fully explored and that in future cases parents and other relatives be included in the hematologic, immunologic, and genetic evaluation.     

Familial hemophagocytic lymphohistiocytosis: report of four cases in two families and review of the literature

Four cases of familial hemophagocytic lymphohistiocytosis (FHL) from two families with first cousins affected in family and siblings in another are presented. The pathological findings, including neuropathology, transmission (TEM), and scanning electron microscopy (SEM), are discussed. This is the first study of this condition to include TEM and SEM. One hundred and fifty-nine cases from the literature, including the author's four cases, are reviewed. The familial occurrence in 116 instances in sibships and consanguinity in 13 of the 73 families support autosomal-recessive inheritance. In five families there were affected first cousins--an observation not readily explained by autosomal-recessive transmission. We suggest that the genetic aspects of FHL be more fully explored and that in future cases parents and other relatives be included in the hematologic, immunologic, and genetic evaluation.     

The familial form of atrial septal defect

Background: The secundum atrial septal defect accounts for 10% of congenital heart disease. Familial occurrence is rare and may present as an isolated lesion or with conduction and skeletal abnormalities. Predisposing genes were described.
Objectives: To evaluate familial defect's prevalence and associated anomalies and assess the yield of screening.
Methods: Family history, physical, electrocardiographic and echocardiographic evaluation of 286 ASD patients and families regarding heart disease, conduction and skeletal anomalies were performed.
Results: Eleven new families with familial defects were identified yielding 28 patients. The rate of transmission was 40–100%, suggestive of autosomal dominant inheritance. Parents were healthy in four families with multiple offspring with ASDs. Two families had ASDs with atrioventricular conduction abnormalities in five of six subjects, not requiring pacing. One subject had skeletal malformation. Ten patients had surgery, 12 had transcatheter ASD closure and six await treatment.
Conclusions: In view of the high prevalence of familial occurrence of secundum ASD (10% of all ASD patients), we recommend screening all first degree relatives of ASD patients for cardiac, conduction and skeletal anomalies. Although a routine genetic investigation is not yet available, genetic patterns of inheritance may be compatible with autosomal dominant inheritance. Healthy parents of affected offspring may suggest a variable gene penetrance or past spontaneous ASD closure. Conduction anomalies may be present or may develop throughout life, and thus should be periodically screened for.     

Familial hypercholesterolaemia: a pilot study of parents'and children's concerns

Objective : To assess psychosocial concerns of families with familial hypercholesterolaemia. Methods : One-hundred-and-fifty-four single or pairs of parents of children age 6-16 years responded to a specifically designed questionnaire. One child from each family was interviewed. Results : Eleven percent of parents thought that their quality of life would have been better had they not known about the disease. None agreed totally that they wished that the diagnosis had not been made. However, 20% reported familial conflicts and 8% that their child's emotional or social life had been adversely affected. Conflicts and adverse effects were associated with higher scores on the Child Behaviour Checklist (CBCL). Among the children, worry about cardiovascular disease (affirmed by 22%) was related to male sex and CBCL score. Relevance : Most families do not indicate that they have experienced psychosocial problems due to familial hypercholesterolaemia. Parental ratings of the child's behavioural adjustment may identify vulnerable children.     

Evidence-based management of paediatric primary spontaneous pneumothorax

The exact incidence of paediatric primary spontaneous pneumothorax (PSP) is unclear, although PSP incidence in the general population is between 6 and 18 per 100 000. PSP has been reported throughout the paediatric age range. A potential genetic predisposition for familial cases has been recently identified. Whilst there is universal consensus on the management of tension pneumothorax, lack of agreement and consistency exists across a wide range of management issues for other aspects of PSP management. Paediatric PSP may have a higher recurrence rate than adult PSP, and the presence of apical lung cysts or bullae is not predictive of recurrence. The decision for surgical intervention should be based on documented recurrence. There is a lack of paediatric evidence to guide management decisions, and extrapolation of predominantly adult data to younger age groups should not be encouraged. Given the relatively low apparent incidence, a multicentre approach to future research is required in order to generate the evidence required for informed management of PSP in children.     

HEREDITARY MOTOR AND SENSORY NEUROPATHIES IN SWEDISH CHILDREN

ABSTRACT. Clinical, neurophysiological and laboratory data are given for 32 children (30 kinships) considered to represent hereditary motor and sensory neurophaties (HMSN) of neuronal-axonal types. In 25 families (27 cases) one of the parents was found to be affected. In one both parents were normal. The mode of inheritance in the 27 patients with familial neuronal-axonal HMSN was concluded to be autosomal dominant HMSN II (Lambert type). The disability was mild to moderate and, on an average, less pronounced than in de- and remyelinating types of HMSN. Seven out of 27 were early toe-walkers of the secondary type. Cavus feet were noted in 25, hand atrophies in eight and mild scoliosis in five. Sensory complaints were recorded in 21. The nerve conduction velocities (NCV_m and NCV_s) of children and parents were slightly subnormal in a few. EMG proved to be the most important parameter for identifying subclinically affected parents.     

Hereditary motor and sensory neuropathies in Swedish children. II. Neuronal-axonal types

Clinical, neurophysiological and laboratory data are given for 32 children (30 kinships) considered to represent hereditary motor and sensory neurophaties (HMSN) of neuronal-axonal types. In 25 families (27 cases) one of the parents was found to be affected. In one both parents were normal. The mode of inheritance in the 27 patients with familial neuronal-axonal HMSN was concluded to be autosomal dominant HMSN II (Lambert type). The disability was mild to moderate and, on an average, less pronounced than in de- and remyelinating types of HMSN. Seven out of 27 were early toe-walkers of the secondary type. Cavus feet were noted in 25, hand atrophies in eight and mild scoliosis in five. Sensory complaints were recorded in 21. The nerve conduction velocities (NCVm and NCVs) of children and parents were slightly subnormal in a few. EMG proved to be the most important parameter for identifying subclinically affected parents.     

Serum pepsinogen I in childhood duodenal ulcer

To delineate possible genetic factors involved in the pathogenesis of childhood duodenal ulcer (DU), serum pepsinogen I concentrations were measured in 14 patients and their parents. Sixty-five normal subjects were simultaneously studied to determine normal values in relation to age. Hyperpepsinogenemia occurred in six of 14 patients and 13 of 28 parents. Hyperpepsinogenemic patients invariably had hyperpepsinogenemic parents, four of six having both parents affected. Hyperpepsinogenemic parents (10 of 13) usually but not invariably gave birth to hyperpepsinogenemic patients. Most hyperpepsinogenemic parents (11 of 13) were asymptomatic. Our findings suggest a genetic basis (hyperpepsinogenemia) for the predisposition to childhood DU in nearly half the patient population, the inheritance being likely to be autosomal dominant with incomplete penetrance. In addition, the existence of normopepsinogenemic families suggests that childhood DU is a heterogeneous entity and not a single disease. A high familial incidence of DU is also present in the normopepsinogenemic subgroup (four of eight) but whether genetic factors or socioenvironmental factors are responsible here will require elucidation from studies with other markers.     

Familial forms of gastro-esophageal reflux

Gastroesophageal reflux is a common disorder that can be responsible for respiratory disease and is not considered as an inherited condition. We report five families with several affected members. Other familial cases have been published and some authors have suggested that transmission occurs on an autosomal dominant basis. Only prospective studies could determine whether GER is an inherited disorder, but at present their feasibility is limited since currently available diagnostic investigations are not suitable for screening.     

Spontaneous bilateral pneumothorax in an infant with bronchiolitis

Spontaneous pneumothorax is an uncommon complication of bronchiolitis due to respiratory syncytial virus. Bilateral spontaneous pneumothorax in an infant with respiratory syncytial virus bronchiolitis has not been previously reported. We report the case of a four-month-old infant who presented in respiratory distress owing to respiratory syncytial virus bronchiolitis with bilateral pneumothoraces. The infant improved with evacuation of air from the chest.     

Nose tapping test inducing a generalized flexor spasm: a hallmark of hyperexplexia.

The present report describes a benign disorder of neonates or young infants presenting with generalized hypertonicity accompanied by brisk muscle stretch reflexes, intermittent clonus, and exaggerated startle response. This condition is termed hyperexplexia, and may be either familial or sporadic. Two affected families are reported: Two sisters and their mother are involved in the first family; in the second family, where the parents are asymptomatic first degree cousins, all three siblings suffer from hyperexplexia of various severity. Nose tapping in infants of affected families induced a uniform reaction of facial twitching accompanied by head extension, and a generalized flexor spasm, all of which may be a hallmark of hyperexplexia. Severely hypertonic infants were treated with small doses of benzodiazepines and improved markedly, all becoming asymptomatic by two years of age. Unnecessary investigation and treatment may be avoided by sufficient awareness of possible hyperexplexia.     

Nose Tapping Test Inducing a Generalized Flexor Spasm: A Hallmark of Hyperexplexia

ABSTRACT. The present report describes a benign disorder of neonates or young infants presenting with generalized hypertonicity accompanied by brisk muscle stretch reflexes, intermittent clonus, and exaggerated startle response. This condition is termed hyperexplexia, and may be either familial or sporadic. Two affected families are reported: Two sisters and their mother are involved in the first family; in the second family, where the parents are asymptomatic first degree cousins, all three siblings suffer from hyperexplexia of various severity. Nose tapping in infants of affected families induced a uniform reaction of facial twitching accompanied by head extension, and a generalized flexor spasm, all of which may be a hallmark of hyperexplexia. Severely hypertonic infants were treated with small doses of benzodiazepines and improved markedly, all becoming asymptomatic by two years of age. Unnecessary investigation and treatment may be avoided by sufficient awareness of possible hyperexplexia.     

Prevalence of duplex collecting systems in familial vesicoureteral reflux

Purpose

Duplication of the ureter and renal pelvis is the most common upper urinary tract anomaly in childhood with a reported incidence of 0.8%. Familial nature of vesicoureteral reflux (VUR) is well recognized with a prevalence of 27–51% in siblings of children with VUR and 66% rate of VUR in offsprings of parents with previously diagnosed VUR. Although VUR is known to be the most common abnormality associated with renal duplex systems, the prevalence and significance of renal duplication in familial VUR is not known. The aim of this study was to determine the prevalence and significance of duplex collecting systems in familial VUR.

Methods

Between 1998 and 2009, the parents of 237 index patients with grade III–V VUR were asked permission to screen siblings younger than 6 years old for VUR. A total of 513 children in 237 families were identified to have VUR (237 index patients, 276 siblings). Families were divided into three groups: Group I, families with only boys affected Group II, families with only girls affected and Group III, families with boys and girls affected.

Results

In 39 families (16.5%) only boys had VUR (Group I), in 89 families (37.5%) only girls had VUR (Group II) and in 109 families (46%) boys and girls were affected (Group III). Duplex collecting systems were present in 39 (7.6%) patients. The prevalence of duplex systems was significantly higher in Group I (15%) compared to Group II (6%) and Group III (6.4%), (p < 0.01). Duplex systems were present in 15% of boys in Group I and only in 4% of boys in Group III (p < 0.01). Patients with duplex systems had a significantly higher grade of VUR than patients without duplex systems (p < 0.01).

Conclusion

Families with exclusively boys affected with VUR have a higher rate of prevalence of duplex collecting systems. This has implications for genetic counseling and for modeling the inheritance of VUR.     

Parents helping parents: does this psychological mechanism work when the child is affected by a high risk disease?

Mutual help relationships are very important among families with children affected by serious diseases. Discussing common problems and experiences can provide the stimulus for developing the coping strategies that are needed to face new situations. This can thus be done with an outlook that nurtures subsequent adjustment and restoration of a good quality of life after diagnosis and the start of therapy. However, when parents are faced with the ordeal of a child affected by a high risk disease, this interaction may have detrimental effects. Through our observations of the behavior and relationships of 217 families over 5 years, we have been able to identify the caregiver as the staff member who can provide true and helpful support to the children and their parents. This caregiver is in touch with the psychologist supervisor on a daily basis, as well as with all the staff members involved in the global care of the child, including physicians, nurses, school teachers, and play workers. We strongly believe that physicians and caregivers must adopt strategies and practices to improve communication with, and often among, the families of affected children, and that they must act as a reliable source of support for their hopes for a cure. Treatment and recovery must never be proposed as a war to be won, but rather as an alliance among patients, parents, physicians and other caregivers that is formed to build health, and not merely to destroy the disease.     

Familial occurrence of gastroschisis. Four new cases and review of the literature.

In two unrelated families, there was familial occurrence of gastroschisis. In one family, a boy and girl were affected and there was a family history of stillbirth, abortion, prematurity, and esophageal obstruction. In the second family, two boys were affected and there was a family history of spontaneous abortion, inguinal hernia, and umbilical hernia. The recurrence of gastroschisis, generally considered a sporadic congenital effect, suggests that the condition may be genetic in nature. Furthermore, the pedigree of one of the families suggests that gastroschisis may be a severe expression of umbilical hernia or other abdominal wall defects. Autosomal dominant inheritance with variable expressivity or multifactorial inheritance may explain the occurrence of gastroschisis in the two families. Thus, a family history of abdominal wall defects may increase the risk for gastroschisis.     

Thoracoscopic bullectomy for primary spontaneous pneumothorax in pediatric patients

Introduction  

Primary spontaneous pneumothorax is a condition that carries significant morbidities and mortalities if not managed properly. Thoracotomy with bullectomy has been the treatment of choice for persistent air leak or recurrence after initial chest drain insertion. With the advancement in minimal invasive surgery, the thoracoscopic approach can dramatically reduce the complications of open thoracotomy. We review our experience in managing spontaneous pneumothorax in children using thoracoscopy.     

Anorexia nervosa in children and adolescent: new therapeutic approaches]

Classical therapeutic recommendations requires that girls with anorexia nervosa be separated from their parents. Refeeding, and later individual psychodynamic approaches were also emphasized. These guidelines are now broadened towards psychotherapeutic approaches (psychodynamic, familial, cognitive-behavioral) associated with psychoeducational and dietetic strategies. In the Child and Adolescent Psychopathology Unit of Robert-Debre Hospital in Paris, individual therapeutic programs are applied to young anorectic girls and their families. These programs are implemented within an inpatient (full-time, part-time) or outpatient (consultations, weekly day-therapeutic program) framework. In order to forge a therapeutic alliance with parents and restore "parental competences" feelings, we do not separate any longer anorectic girls from their parents during hospitalization, and we have developed an alternative therapeutic model to full-time hospitalization.     

Prevalence of appendectomy in Japanese families

We investigated the prevalence of appendectomy in Japan to determine the tendency of familial aggregation on appendicitis using a large scale study. A total of 517 Japanese women (aged 20 to 45 years) served as the subjects and were questioned regarding their family history of appendectomy due to appendicitis. We compared the prevalence of appendectomy in children (subjects + their siblings) of three groups of families: (i) both parents affected; (ii) one parent affected; (iii) no parents affected. The differences between groups were statistically significant using contingency table and Chi-squared test. Our results suggest that about 40% of children with both parents affected, and about 20% of children with one parent affected may develop the disorder during childhood. This study may provide useful information in the nature of the development of appendicitis.     

Symptomatic spontaneous pneumothorax in term newborns

The causes and risk factors of symptomatic spontaneous pneumothorax in term newborns are not completely understood. In the present study, our aim was to investigate the risk factors for and clinical and laboratory characteristics of term newborns with spontaneous symptomatic pneumothorax and to evaluate the outcome of management in this condition. A total of 11 term newborns admitted to the newborn intensive care unit with a diagnosis of symptomatic spontaneous pneumothorax were included during a 22-month period. Female to male ratio was 4:7, mean gestational age was 39.5 weeks, and 63% were delivered with a cesarean section, 18% of patients had renal and 55% had congenital cardiac anomalies. Rate of cardiac anomalies was more frequent in the study group compared to control group. Echocardiography in addition to renal ultrasonography may also be needed in term newborns with spontaneous symptomatic pneumothorax and further studies may be warranted to evaluate this association.