Clinical Brief

Familial Spontaneous Pneumothorax in Neonates

Soraisham Amuchou Singh and Harish Amin
Division of Neonatology, Department of Pediatrics, Foothills Medical Centre, University of Calgary, Alberta, Canada

Abstract. Spontaneous pneumothorax is a recognised cause of respiratory distress in the neonatal period. Spontaneous pneumothorax occurring during the neonatal period in siblings within a family is rare. We report a case of spontaneous pneumothorax occurring in two siblings in the neonatal period. [Indian J Pediatr 2005; 72 (5) : 445-447] E-mail: amuchou@yahoo.com
Key words : Spontaneous pneumothorax; Familial; Neonate; Newborn

Spontaneous pneumothorax is a recognised cause of respiratory distress in newborn infants. Familial spontaneous pneumothorax during the neonatal period is an uncommon entity and rarely reported. To the best of our knowledge, there are only three case reports of pneumothorax occurring in more than one neonate in the same family1,2,3. We report the occurrence of spontaneous pneumothorax in two siblings during the neonatal period. CASE REPORTS Case 1 A 3010 gm female infant was born at 40 weeks gestation by spontaneous vaginal delivery to a 33 years old Gravida 2 Para 1 woman after an uneventful pregnancy. Prenatal course was unremarkable except for vaginal colonisation with group B streptococcus. Prophylactic intrapartum antibiotics were administered. The duration of labour was 4 hours and membranes ruptured just prior to delivery. Apgar scores were 7 and 8 at 1 and 5 minutes respectively. Initial resuscitation included oro-pharyngeal suction and free flow oxygen. Umbilical cord arterial pH was 7.26 with base deficit of 4. There was no maternal fever or evidence of chorioamnionitis. Shortly after delivery, baby developed grunting and cyanosis. She required supplemental oxygen via face mask with resolution of cyanosis. Physical examination at admission revealed the following: heart rate 156 beats/min, blood pressure 64/44 mmHg, and respiratory rate 68 breaths/minute. Breath sounds were decreased with no rales or wheezes. No chest retractions were noted. Rest of the systemic examination was normal. An arterial blood gas measurement in 40% ambient oxygen revealed a pH of 7.41, PaCO 2 of 32 mmHg and PaO2 of 57 mmHg. The chest radiograph revealed bilateral small anterior pneumothoraces with normal pulmonary
Correspondence and Reprint requests : Dr. S. Amuchou Singh, Department of Pediatrics, Foothills Medical Centre, C-211, 1403, 29th Street, NW, Calgary, Alberta-T2N2T9. Fax: 403-944-4892.

vasculature and normal cardiac silhouette (Figs. 1 & 2). Complete blood count was normal. She was managed with oxygen via an oxyhood. Respiratory distress

Fig. 1. Chest X ray (AP view) showing bilateral pneumothoraces

Fig. 2. Chest X-ray (lateral view) showing pneumothorax

Indian Journal of Pediatrics, Volume 72May, 2005

445

Soraisham Amuchou Singh and Harish Amin resolved within 12 hours. She did not require needle thoracocentesis or chest tube placement. Breast feeding was started at 12 hours of age. She was also treated with ampicillin and gentamicin for 48 hours. Blood cultures were sterile. Repeat chest radiograph done after 24 hours showed resolution of pneumothoraces. Case 2 (Sibling 1) A 41-week gestation male infant was born by forceps delivery after induction of labor for postmaturity. Fetal tachycardia and thin meconium stained fluid was noticed during second stage of labor. Birth weight was 3815 gm. The infant was vigorous at birth and the Apgar scores were 8 and 9 at 1 and 5 minute respectively. No endotracheal or oral suctioning was required at birth. Soon after birth, he started grunting and was tachypneic.Chest radiograph showed bilateral small pneumothoraces. He was treated with oxygen by oxyhood. Respiratory distress resolved within 4 hours, following which breast feeding was commenced. At 2 years, he is a healthy boy and has not had any recurrences of pneumothorax. DISCUSSION We describe the occurrence of spontaneous pneumothorax in the newborn period in two siblings of a family. Spontaneous pneumothorax is a recognised cause of respiratory distress in newborn period. The estimated incidence of spontaneous pneumothorax varies from 0.3% to 1.3% based on clinical symptoms or on radiological findings respectively.4,5 In the newborn period, pneumothorax may occur spontaneously (idiopathic) or secondary to underlying lung diseases such as respiratory distress syndrome, meconium aspiration syndrome, vigorous resuscitation, positive pressure ventilation, pulmonary hypoplasia, pneumonia and congenital pulmonary cystic malformations. Spontaneous pneumothorax at birth may result from rupture of alveoli secondary to high pressure needed to expand previously uninflated lungs or from uneven distribution of inflating pressures among groups of alveoli. Familial spontaneous pneumothorax (FSP) was first described by Faber in 1921 6. FSP is extremely rare in neonates. To the best of our knowledge, only three case reports are available in the literature that involves more than one newborn in the family. One report describes a family in which 5 persons in three generations suffered spontaneous pneumothorax, four of them had spontaneous pneumothorax during the neonatal period. No etiology was identified, although transient tachypnea of newborn (TTN) or unspecified neonatal respiratory problems were diagnosed. In this family, most pneumothoraces occurred in female infants on the maternal side.1
446

Bagchi et al2 reported a series of four neonates in an extended family that have had spontaneous pneumothorax soon after birth without any obvious cause. Kugelman et al3 describe neonatal pneumothorax associated with transient tachypnea of newborn in siblings of two families. FSP has also been reported in adults and adolescents with male predominance. Wilson and Ellsworth reviewed the literature and identified 57 familial cases of spontaneous pneumothorax in 21 families. The affected parents and children were found in 13 families.7 Typically spontaneous pneumothorax in this population was due to spontaneous rupture of apical bulla. Other causes of familial spontaneous pneumothorax include bronchial asthma, tuberculosis, Marfans syndrome, genetic disorders such as cystic fibrosis, homocystinuria, alpha1 antitrypsin deficiency and collagen vascular disorders like Ehlers-Danlos syndrome. Attempts have been made to identify the mode of inheritance of FSP. Morrison et al8 and Bagchi et al2 have suggested an autosomal dominant inheritance with variable penetrance whereas Abolnic et al9 suggested an X-linked recessive pattern. Sharpe et al 10 suggested possible linkage of HLA-A2, B40 haplotypes with spontaneous pneumothorax. Lenler-Petersen et al11 in their studies did not identify any relationship between familial spontaneous pneumothorax and certain HLA haplotypes. Administration of 100% oxygen (nitrogen washout therapy) to infants with pneumothorax accelerates the resolution of air leaks and shortens the duration of extra pulmonary air collection from 2 days to 8-12 hours.12 The majority of the infants with spontaneous pneumothorax are managed conservatively. Only 6/80(7.5%) symptomatic term infants with spontaneous pneumothorax require chest tube insertion or needle thoracocentesis.13 CONCLUSION We suggest that infants born to families with a history of spontaneous pneumothorax in the neonatal period should be closely observed for early signs of respiratory distress, and be evaluated and treated promptly. REFERENCES
1. Engdahl MS, Gershan WM. Familial spontaneous pneumothorax in neonates. Pediatr Pulmonol 1998; 25 : 398-400 2. Bagchi I, Nycyk JA. Familial spontaneous pneumothorax. Arch Dis Child Fetal Neonatal Ed. 2002; 87 : F70 3. Kugelman A, Riskin A, Weinger-Abend M, Bader D. Familial neonatal pneumothorax associated with transient tachypnea of the newborn. Pediatr Pulmonol 2003; 36 : 69-72. 4. Yu VY, Liew SW, Robertson NR. Pneumothorax in the newborn: Changing pattern. Arch Dis Child 1975; 50 : 449-453. 5. Steele RW, Metz JR, Bass JW, Dubois JJ. Pneumothorax and pneumomediastinum in the newborn. Radiology 1971; 98:629632

Indian Journal of Pediatrics, Volume 72May, 2005

Familial Spontaneous Pneumothorax in Neonates

6. Faber EE. Spontaneous pneumothorax in two siblings. Hospitalstid 1921; 64 : 573574. 7. Wilson WG, Aylsworth AS. Familial spontaneous pneumothorax. Pediatrics 1979; 64 : 172-175. 8. Morrison PJ, Lowry RC, Nevin NC. Familial primary spontaneous pneumothorax consistent with true autosomal dominant inheritance. Thorax 1998; 53 : 151-152. 9. Abolnik IZ, Lossos IS, Zlotogora J, Brauer R. On the inheritance of primary spontaneous pneumothorax. Am J Med Genet 1991; 40: 155-158. 10. Sharpe IK, Ahmad M, Braun W. Familial spontaneous pneumothorax and HLA antigens. Chest 1980; 78 : 264-268. 11. Lenler-Peterson P, Grunnet N, Jespersen TW, Jaeger P. Familial spontaneous pneumothorax. Eur Respir J 1990; 3 : 342345. 12. Gomella TL, Cunningham D, Eyal FG, Zenk KE, eds. Neonatology. Stanford, CT: Appleton-Lange, 1999; 276. 13. Al Tawil K, Abu-Ekteish FM, Tamimi O, Al Hathal MM, AlHathlol K, Abu-Laimun B. Symptomatic spontaneous pneumothorax in term newborn infants. Pediatr Pulmonol 2004; 37 : 443-446.

Book Available

IJP TRAVEL GRANT FOR MEDICAL CONFERENCES

1. 2. 3. 4. 5. 6. 7. Six grants are available. Only Postgraduate students are eligible to apply. Grant will cover train journey to and fro, registration fee and limited local expenses. Total expenditure not to exceed Rs. 5000 per candidate. Applicant should submit a copy of the research paper to be presented at the conference along with the letter of acceptance by the conference organizers. The application should be forwarded through the Head of the Department along with a letter certifying that the applicant is not being supported by any other source. Applicant should be a subscriber to the journal. Applicant should explain in 200 words why he/she would like to be considered for the grant. Grants are available only to subscribers to journal

For information please write to : Editor-in-Chief, The Indian Journal of Pediatrics, 125 (2nd Floor), Gautam Nagar, New Delhi-110049. Post Box No. 3875, New Delhi - 110 049. Phone : 26568098. Telefax : 26857587 E-mail : ijp.journal.vsnl.net@vsnl.net; ijp@vsnl.net

Indian Journal of Pediatrics, Volume 72May, 2005

447

Department of Genetic Medicine, Sir Ganga Ram Hospital

Rajinder Nagar, New Delhi 110060 Telephone Nos : Direct 011-25861767; EPABX 25861463/25735205 ext. 1382. Fax No. 011-25861767 or 26589434. E-mail : dr_icverma@yahoo.com

Genetic Tests For Pediatricians

Biochemical Tests :
1.GalactosemiaGALT enzyme plus Beutler spot test (Heparin blood) 2. Succinylacetone + Fumaryl acetoacetate for Tyrosinemia (Heparin blood) 3. Organic acids (urine) + Mass Tandem spectroscopy Blood (Filter paper specimens 4. Aminoacid chromatography, quantitative (Urine/Plasma) New 5. Metabolic screening-urine (Aminoacid chromatography + chemical tests) 6. Cystic fibrosis Immunoreactive trypsin (less than 3 months age) 7. Enzyme assays for Metachromatic leukodystrophy, Gm1 gangliosidosis, Tay Sachs disease, Pompie's Gaucher's disease, Krabbe's Niemann Pick's. MPS VII. Hurler's Hunter syndrome Price per enzyme variable

DNA Diagnostics
Beta Thalassemia, Mutation analysis (family)/XMN polymorphism/Prenatal dx Duchenne Muscular Dystrophy, Deletions/Prenatal diagnosis/Carrier screening Cystic fibrosis, 25 mutations including 508/508 only Spinal muscular atrophyDiagnosis/Prenatal diagnosis Hemophilia A and B, Carrier screening/Prenatal diagnosis Mitochondrial disorders (MELAS, MERRF, Leighs, NARP) .... Variable Many other disorders For Prenatal Diagnosis Enquire for Requirements & Cost

Chromosomal Studies
Blood/dysmorphic child/Bone Marrow for leukemias Amniotic cell cultures/Chorionic villus samples Fragile X/Ataxia telengiectasia/Prader Willi syndrome F.I.S.H. studies for Micro-deletion syndromes/Quick Prenatal diagnosis Muscle Biopsy staining with Dystrophin (3 regions), Sarcoglycan antibodies ( , , , ,) Merosin, Dysferlin and Dystroglycan antibodies (Contact before sending) Send samples by Courier to Reach within 48 hours. No Refrigeration required. Molecular diagnosis 5 ml EDTA blood; Biochemical Enzyme assays 8 ml EDTA blood; Chromosomal studies 3 ml Heparin blood; Aminoacids/Organic acids 15 ml of morning specimen of urine For further information Contact Staff of Dept. of Genetic Medicine in Hospital, 9.30 a.m. to 5 p.m. Telephone Nos. EPABX 25861463/25735205-ext. 1382 (Dr. Verma), 2115 (Molecular), 2112 (Biochemical), 2111 (Cytogenetics).
448 Indian Journal of Pediatrics, Volume 72May, 2005