Familial spontaneous pneumothorax.

A family is described in which four persons in three generations suffered spontaneous pneumothoraces: a newborn, an infant, an adolescent, and an adult. Review of the literature reveals 61 reports of familial spontaneous pneumothorax in 22 families. The ratio of male to female cases is approximately 1.8. Affected parents and affected children (including affected fathers and sons) are seen in ten families, while affected siblings with unaffected parents are noted in 13 families. Consanguinity has not been reported. Although autosomal dominant inheritance has been suggested as an explanation of familial spontaneous pneumothorax, available pedigree data are not adequate for statistical analysis. Physicians should be aware of the familial occurrence of spontaneous pneumothorax so that members of such families may be appropriately managed when problems arise.     

Inherited thrombocytopenias: toward a molecular understanding of disorders of platelet production

PURPOSE OF REVIEW: To review the defined syndromes of inherited thrombocytopenia and discuss new genetic data for several disorders that shed light on the process of megakaryopoiesis. RECENT FINDINGS: The genes responsible for several inherited thrombocytopenias have been recently discovered, including congenital amegakaryocytic leukemia, amegakaryocytic thrombocytopenia with radio-ulnar synostosis, familial platelet syndrome with predisposition to acute myelogenous leukemia, Paris-Trousseau, Wiskott-Aldrich syndrome, and the May-Hegglin, Sebastian, Epstein, and Fechner syndromes. These clinical syndromes, combined with studies in mouse and in vitro models, reveal the importance of these genes for normal hematopoiesis. SUMMARY: Although inherited syndromes of thrombocytopenia are rare, characterization of mutations in these disorders has contributed greatly to our understanding of megakaryocyte and platelet development. A systematic registry of congenitally thrombocytopenic individuals would almost certainly lead to new genetic discoveries.     

Iodopovidone Pleurodesis for Isolated Pulmonary Langerhan’s Cell Histiocytosis in a Two Year Old Child

Isolated pulmonary involvement in Langerhans Cell Histiocytosis (LCH) is rare in childhood. The authors report a 2-y-old boy who presented with acute history of fever, cough and respiratory distress; later developed pneumothorax; whose CT thorax showed diffuse pulmonary cystic lucencies bilaterally. Lung biopsy confirmed pulmonary LCH with CD1a positivity. Recurrent spontaneous pneumothoraces are common in patients of pulmonary LCH; which necessitates rapid intervention. The authors share their experience of successfully using iodopovidone in pleurodesis for repeated pneumothorax episodes in this child with rare diagnosis of isolated pulmonary LCH.     

Spontaneous pneumothorax, pneumomediastinum, and epidural emphysema presenting as neck pain suspicious for meningitis

Pneumomediastinum and epidural pneumatosis are rare findings. Simultaneous occurrence of spontaneous pneumothorax, pneumomediastinum, pneumopericardium, and epidural emphysema is particularly rare. These findings are even more unusual when there is no history of trauma, underlying pathology, or history of asthma. We present a case of a young male who was referred to the emergency department by his primary care physician for rule out meningitis and was found to have all the above-mentioned findings. It is important to recognize the clinical signs and symptoms of air trapping in various tissues and investigate appropriately. This may prevent potentially life-threatening complications. Subcutaneous emphysema, pneumomediastinum, and epidural emphysema associated with spontaneous bilateral pneumothoraces represents an extremely rare presentation.     

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.     

Pulmonary Alveolar Septal Calcinosis Causing Progressive Respiratory Failure in Acute Lymphoblastic Leukemia in Childhood

A syndrome of pulmonary alveolar septal calcinosis, pneumothorax, and pneumomediastinum, leading to rapidly progressive acute respiratory insufficiency and death was observed in 2 children with acute lymphoblastic leukemia (ALL). Primary clinical and radiological considerations in these patients were pulmonary edema and infection, and the diagnosis of pulmonary alveolar septal calcification was established only at autopsy. One patient, a 15-year-old girl, was found also to have parathyroid hyperplasia typical of familial hyperparathyroidism. The other, a 16-month-old girl, showed osteitis fibrosa of the bones and parathyroid hyperplasia of secondary type, suggesting that the pulmonary calcinosis resulted from hypercalcemia caused by a parathormone or prostaglandin-secreting tumor. The cause of pneumothorax and pneumomediastinum may have been rupture of calcified alveolar septa induced by high PEEP during ventilation of these patients. Other possible mechanisms contributing to hypercalcemia and pulmonary calcinosis in children with acute leukemia include bone resorption due to marrow infiltration, immobilization syndrome, renal failure, and administration of calcium, phosphate, or bicarbonate. This complication of acute leukemia in childhood is rare (2 patients in 430 autopsied over the period 1961-1982 at Childrens Hospital of Los Angeles). How often the process can be reversed if diagnosed before severe respiratory insufficiency is present is not known.     

Pulmonary alveolar septal calcinosis causing progressive respiratory failure in acute lymphoblastic leukemia in childhood

A syndrome of pulmonary alveolar septal calcinosis, pneumothorax, and pneumomediastinum, leading to rapidly progressive acute respiratory insufficiency and death was observed in 2 children with acute lymphoblastic leukemia (ALL). Primary clinical and radiological considerations in these patients were pulmonary edema and infection, and the diagnosis of pulmonary alveolar septal calcification was established only at autopsy. One patient, a 15-year-old girl, was found also to have parathyroid hyperplasia typical of familial hyperparathyroidism. The other, a 16-month-old girl, showed osteitis fibrosa of the bones and parathyroid hyperplasia of secondary type, suggesting that the pulmonary calcinosis resulted from hypercalcemia caused by a parathormone or prostaglandin-secreting tumor. The cause of pneumothorax and pneumomediastinum may have been rupture of calcified alveolar septa induced by high PEEP during ventilation of these patients. Other possible mechanisms contributing to hypercalcemia and pulmonary calcinosis in children with acute leukemia include bone resorption due to marrow infiltration, immobilization syndrome, renal failure, and administration of calcium, phosphate, or bicarbonate. This complication of acute leukemia in childhood is rare (2 patients in 430 autopsied over the period 1961-1982 at Childrens Hospital of Los Angeles). How often the process can be reversed if diagnosed before severe respiratory insufficiency is present is not known.     

Congenital unilateral facial nerve palsy as an unusual presentation of BOR syndrome

Congenital facial nerve palsy (CFNP) is a rare condition that can be generally categorized as developmental or traumatic. Though trauma during birth is the most common cause, sometimes CFNP is observed in association with genetic syndromes and congenital hearing loss and structural anomalies of the middle and inner ear. CFNP is infrequently reported in association with branchio–oto–renal (BOR) syndrome. We present a case of a 4-day-old infant girl with a familial history of renal disease, who was hospitalized because of congenital unilateral facial palsy, which subsequently appeared to be a part of BOR syndrome and led to the diagnosis of congenital bilateral renal hypoplasia, renal failure, and secondary arterial hypertension. This case proves that sometimes rare manifestations of BOR syndrome may be one of the first signs of an underlying syndrome. Issues regarding patterns of BOR syndrome inheritability and expressivity that we encountered are also discussed. Patients with a familial history of BOR syndrome should be carefully inspected after birth, especially in suspected cases such as newborns with preauricular pits and/or facial nerve palsy.     

Genetic predisposition to colorectal cancer: new pieces in the pediatric puzzle

Colorectal cancer is rare in childhood. The 2 best characterized familial syndromes, hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) and familial adenomatous polyposis (FAP), are autosomal dominant inherited disorders. HNPCC is relevant to pediatric gastroenterology practice because children and adolescents with underlying colorectal cancer can have germ-line mutations of mismatch repair genes. Recent attention has focused on characterizing genetic predisposition to attenuated FAP in individuals who do not have germ-line mutations in the APC gene. The identification of a second mechanistic explanation called MYH-associated polyposis (MAP), which is an autosomal-recessive condition, has important implications for both screening and management strategies. Hereditary colorectal cancer including HNPCC, FAP, attenuated FAP and MYH-associated polyposis in children are the subject of this review.     

Nephrotic syndrome in children

Nephrotic syndrome is the commonest glomerular disease affecting children and is frequently encountered in general paediatrics. The most common subtype is minimal change nephrotic syndrome which typically occurs in preschool children and responds well to corticosteroids. Another subtype, congenital nephrotic syndrome, also presents in the neonatal period or in early infancy when it may be associated with genetic mutations. Such patients do not respond to immunosuppressant therapy. The study of congenital nephrotic syndromes has identified several causative genetic mutations and there have been significant recent advances in the understanding of disease mechanisms in nephrotic syndrome.Complications of prolonged nephrosis, seen in congenital, frequently relapsing, steroid dependent and particularly steroid resistant nephrotic syndromes can lead to significant morbidity. These include sepsis, thrombosis, hypothyroidism and hyperlipidaemia. It is important to identify and manage these complications. Children with nephrotic syndrome should complete the standard vaccination schedule and in addition should be vaccinated against varicella zoster. Live vaccines should be administered when children are in disease remission and on minimal immunosuppression. The management options for children with frequently relapsing or steroid resistant nephrotic syndrome include additional immunosuppression and several agents have been used in this context. These agents will often require additional therapeutic monitoring.     

Congenital bilateral perisylvian syndrome with pituitary hypoplasia and ectopic neurohypophysis

Congenital bilateral perisylvian syndrome (CBPS) is a congenital neurological syndrome characterized by pseudobulbar palsy, cognitive deficits and bilateral perisylvian abnormalities observed on imaging. The described abnormality in CBPS is polymicrogyria located in the frontal, parietal, and/or occipital lobes. A few syndromes or abnormalities associated with this syndrome have been documented. Pituitary abnormalities are rare disorders. Association of CBPS with pituitary abnormalities has not been reported previously. In this case, a combination of bilateral perisylvian polymicrogyria with pituitary hypoplasia and ectopic neurohypophysis, caused by a possible single common insult, is presented.     

Schinzel-Giedion syndrome and congenital megacalyces

The Schinzel-Giedion syndrome is a rare autosomal recessive condition with typical facies, skeletal manifestations and congenital hydronephrosis. We report an infant with characteristic findings who had bilateral congenital megacalyces. Congenital megacalyces is believed to be a developmental abnormality, occurs in other malformation syndromes and has not previously been described in the Schinzel-Giedion syndrome.     

Thickened cortical bones in congenital neutropenia

Congenital neutropenia is an uncommon entity which may be familial and has a wide spectrum of clinical expression. Three sisters with the severe form of the disease, that suffered from recurrent infections which lead to their demise, are described. Review of their radiographs revealed the presence of cortical thickening of the bones. Although several syndromes with different bone abnormalities have been reported associated with neutropenia, the radiographic finding of thickened cortex in children with congenital neutropenia has not been previously described.     

Spontaneous pneumothorax resulting from congenital cystic adenomatoid malformation in a pre-term infant: case report and literature review.

In the literature there are only three reported cases of spontaneous pneumothorax resulting from congenital cystic adenomatoid malformation in children under 1 year and for whom any resuscitative efforts were made. We present here a fourth case of a pre-term baby girl who was in perfect health, until she suffered a spontaneous pneumothorax as the initial manifestation of congenital cystic adenomatoid malformation of the lung at 10 weeks of age. Atypical segmentectomy with the use of stapling devices was successful. The characteristics of this particular manifestation are discussed.     

Spontaneous pneumothorax in children in the South-east of Turkey

BACKGROUND: The purpose of the present study was to investigate the etiological factors, symptomatology, management and outcome of spontaneous pneumothorax in children aged <15 years. METHODS: The authors' reviewed the records of 44 children with spontaneous pneumothorax between January 1990 and February 2002. RESULTS: The median age was 4.6 years (range 2 months-14 years), and 51% were male. Breathlessness and coughing were the most common symptoms. All pneumothoraces were initially managed by closed tube drainage. Thirty-seven (84%) of the children responded well and were cured of pneumothorax with closed tube thoracostomy alone. Seven children (16%) underwent thoracotomy. The median hospital stay was 12.9 days. There were two deaths from respiratory failure. Six- to 96-month follow-up information was available for 32 patients, and only one recurrence was found. CONCLUSIONS: Lung infections were the most frequently observed underlying pathology in the patients studied. Closed tube thoracostomy alone was sufficient for the majority of patients.     

Barotraumatic pneumothorax during cardiopulmonary bypass: A rare complication of open heart surgery

In the absence of underlying lung disease, pneumothorax is a rare complication of open heart surgery in patients on cardiopulmonray bypass. However, barotraumatic pneumothoraces may be induced by manually applied endotracheal tube positive pressure to prevent air emboli from the left heart during open heart surgery. Two patients in whom barotraumatic pneumothoraces occurred during cardiopulmonary bypass and open heart surgery are reported.     

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.     

Genetic predisposition and screening in pediatric cancer

Pediatricians are often the health care providers who first detect the signs and symptoms of childhood cancer. Although pediatric malignancies are rare diseases, early diagnosis is an important factor leading to high cure rates of many types of cancers including retinoblastomara, Wilms' tumor, hepatoblastoma, rhabdomyosarcoma. thyroid carcinoma, and other solid tumors. A number of familial cancer syndromes present with childhood cancers that can be recognized or diagnosed by pediatricians. The genetic origins of several syndromes have been elucidated. Genetic testing is not yet available for all of these inherited cancers. A frequently updated list of genetic tests is available at www.genetests.org. The ordering and interpreting of genetic tests, however, is often best done by trained genetic counselors. The pediatrician will play a vital on-going role in following the at-risk child. In many of syndromes discussed, the cost effectiveness of the tests as well as that of any potential intervention needs further study. The role of the subtle genetic polymorphisms in pediatric tumorigenesis. many more of which will undoubtedly be described in the coming years, has not yet been translated into defined needs for interventions. Perhaps in the future it will be possible to understand the additive effect of multiple genetic polymorphisms and to determine genetic profiles of high cancer risk. Until suitable interventions are established, however, the study of genetic variability and cancer will await practical significance. Undoubtedly other major important cancer genes are yet to be discovered and characterized. An additional challenge is the counseling and management of children and adults who have a strong family history of cancer yet who do not have a recognizable syndrome. The role of the primary pediatrician is to recognize the major cancer genetic syndromes, to make appropriate referrals for genetic counseling and testing when indicated, and to ensure that adequate screening tests are being done.     

Andersen syndrome, ventricular arrhythmias and channelopathy (a case report)]

INTRODUCTION: Recent advances in molecular genetic research have provided new insights into severe ventricular arrhythmias related to channelopathies. CASE REPORT: A case of Andersen's syndrome followed during fourteen years is reported. This rare familial periodic paralysis is characterized by its association with dysmorphic features (micrognatia) and ventricular arrhythmias. COMMENTS: Andersen's syndrome has been attributed to a mutation in the KCNJ2 gene which is involved not only in stabilizing cardiac rhythm, but also in modulating the excitability of skeletal muscle and in morphogenesis. This disease must be distinguished from hyperkalemic periodic paralysis due to a mutation in the skeletal muscle sodium channel gene (SCN4A) and from hypokalemic periodic paralysis related to dihydropyridine receptor mutation (CACNL1A3). Furthermore, it may not be confused with others rhythmic channelopathies (long QT syndromes, catecholaminergic polymorphic ventricular tachycardia and Brugada's syndrome).     

Two uncommon radiographic signs of an anterior neonatal pneumothorax. Correlated with clinical finding

An anterior pneumothorax in a supine neonate is difficult to diagnose. A correlation was sought between radiographic signs of an anterior pneumothorax and clinical data to facilitate the radiographic diagnosis. A total of 817 consecutive admissions to two regional nurseries were reviewed, and infants with pneumothoraces were identified. Nineteen percent of these neonates had anterior pneumothoraces with Medial Stripe and Large Hyperlucent Hemithorax signs observed on the chest radiographs. The Medial Stripe sign was not associated with any distinguishing clinical features that would assist the physician in the interpretation of the radiograph. The Large Hyperlucent Hemithorax sign was noted predominantly on the left side in near-term infants who were breathing spontaneously. It was concluded that there are specific clinical variables associated with a Large Hyperlucent Hemithorax sign of an anterior pneumothorax in a supine neonate.