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Indian Journal of Pediatrics, Volume 72May, 2005 445

Clinical Brief

Correspondence and Reprint requests : Dr. S. Amuchou Singh,Department of Pediatrics, Foothills Medical Centre, C-211, 1403, 29thStreet, NW, Calgary, Alberta-T2N2T9. Fax: 403-944-4892.

Spontaneous pneumothorax is a recognised cause ofrespiratory distress in newborn infants. Familialspontaneous pneumothorax during the neonatal period isan uncommon entity and rarely reported. To the best ofour knowledge, there are only three case reports ofpneumothorax occurring in more than one neonate in thesame family1,2,3. We report the occurrence of spontaneouspneumothorax in two siblings during the neonatal period.

CASE REPORTS

Case 1A 3010 gm female infant was born at 40 weeks gestationby spontaneous vaginal delivery to a 33 years old Gravida2 Para 1 woman after an uneventful pregnancy. Prenatalcourse was unremarkable except for vaginal colonisationwith group B streptococcus. Prophylactic intrapartum

antibiotics were administered. The duration of labour was4 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 andfree flow oxygen. Umbilical cord arterial pH was 7.26with base deficit of 4. There was no maternal fever orevidence of chorioamnionitis. Shortly after delivery, babydeveloped grunting and cyanosis. She requiredsupplemental oxygen via face mask with resolution ofcyanosis.

Physical examination at admission revealed thefollowing: heart rate 156 beats/min, blood pressure 64/44mmHg, and respiratory rate 68 breaths/minute. Breath

sounds were decreased with no rales or wheezes. Nochest retractions were noted. Rest of the systemicexamination was normal.

An arterial blood gas measurement in 40% ambientoxygen revealed a pH of 7.41, PaCO2 of 32 mmHg andPaO2 of 57 mmHg. The chest radiograph revealed bilateralsmall anterior pneumothoraces with normal pulmonary

Familial Spontaneous Pneumothorax in Neonates

Soraisham Amuchou Singh and Harish Amin

Di vi sion of Neonatology, Department of Pediatri cs, Foothil ls M edical Centre, Uni versit y of Calgary, Al bert a,

Canada

Abstract. Spontaneous pneumothorax is a recognised cause of respiratory distress in the neonatal period. Spontaneouspneumothorax 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: [email protected]

Key words :Spontaneous pneumothorax; Familial; Neonate; Newborn

vasculature and normal cardiac silhouette (Figs. 1 & 2).Complete blood count was normal. She was managedwith 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


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Soraisham Amuchou Singh and Harish Amin

446 Indian Journal of Pediatrics, Volume 72May, 2005

resolved within 12 hours. She did not require needlethoracocentesis or chest tube placement. Breast feedingwas started at 12 hours of age. She was also treated withampicillin and gentamicin for 48 hours. Blood cultureswere sterile. Repeat chest radiograph done after 24 hoursshowed resolution of pneumothoraces.

Case 2 (Sibling 1)A 41-week gestation male infant was born by forcepsdelivery after induction of labor for postmaturity. Fetaltachycardia and thin meconium stained fluid was noticedduring second stage of labor. Birth weight was 3815 gm.The infant was vigorous at birth and the Apgar scoreswere 8 and 9 at 1 and 5 minute respectively. Noendotracheal or oral suctioning was required at birth.

Soon after birth, he started grunting and wastachypneic.Chest radiograph showed bilateral smallpneumothoraces. He was treated with oxygen byoxyhood. 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 recurrencesof pneumothorax.

DISCUSSION

We describe the occurrence of spontaneouspneumothorax in the newborn period in two siblings of afamily. Spontaneous pneumothorax is a recognised causeof respiratory distress in newborn period. The estimatedincidence of spontaneous pneumothorax varies from 0.3%to 1.3% based on clinical symptoms or on radiologicalfindings respectively.4,5

In the newborn period, pneumothorax may occur

spontaneously (idiopathic) or secondary to underlyinglung diseases such as respiratory distress syndrome,meconium aspiration syndrome, vigorous resuscitation,positive pressure ventilation, pulmonary hypoplasia,pneumonia and congenital pulmonary cysticmalformations. Spontaneous pneumothorax at birth mayresult from rupture of alveoli secondary to high pressureneeded to expand previously uninflated lungs or fromuneven distribution of inflating pressures among groupsof alveoli.

Familial spontaneous pneumothorax (FSP) was firstdescribed by Faberin 19216. FSP is extremely rare inneonates. To the best of our knowledge, only three casereports are available in the literature that involves more

than one newborn in the family. One report describes afamily in which 5 persons in three generations sufferedspontaneous pneumothorax, four of them hadspontaneous pneumothorax during the neonatal period.No etiology was identified, although transient tachypneaof newborn (TTN) or unspecified neonatal respiratoryproblems were diagnosed. In this family, mostpneumothoraces occurred in female infants on thematernal side.1

Bagchi et al2 reported a series of four neonates in anextended family that have had spontaneouspneumothorax soon after birthwithout any obviouscause.Kugelman et al3 describe neonatal pneumothoraxassociated with transient tachypnea of newborn insiblings of two families.

FSP has also been reported in adults and adolescentswith male predominance. Wilson and Ellsworth reviewedthe literature and identified 57 familial cases ofspontaneous pneumothorax in 21 families. The affectedparents and children were found in 13 families. 7 Typicallyspontaneous pneumothorax in this population was due tospontaneous rupture of apical bulla. Other causes offamilial spontaneous pneumothorax include bronchialasthma, tuberculosis, Marfans syndrome, geneticdisorders such as cystic fibrosis, homocystinuria,alpha1antitrypsin deficiency and collagen vascular disorderslike Ehlers-Danlossyndrome.

Attempts have been made to identify the mode ofinheritance of FSP. Morrison et al8 and Bagchi et al2 have

suggested an autosomal dominant inheritance withvariable penetrance whereas Abolnic et al9 suggested anX-linked recessive pattern. Sharpe et al10 suggestedpossible linkage of HLA-A2, B40 haplotypes withspontaneous pneumothorax. Lenler-Petersen et al11 intheir studies did not identify any relationship betweenfamilial spontaneous pneumothorax and certain HLAhaplotypes.

Administration of 100% oxygen (nitrogen washouttherapy) to infants with pneumothorax accelerates theresolution of air leaks and shortens the duration of extrapulmonary air collection from 2 days to 8-12 hours.12 Themajority of the infants with spontaneous pneumothoraxare managed conservatively. Only 6/80(7.5%)symptomatic term infants with spontaneouspneumothorax require chest tube insertion or needlethoracocentesis.13

CONCLUSION

We suggest that infants born to families with a history ofspontaneous pneumothorax in the neonatal periodshould be closely observed for early signs of respiratorydistress, and be evaluated and treated promptly.

REFERENCES

1. Engdahl MS, Gershan WM. Familial spontaneouspneumothorax in neonates. Pediatr Pulmonol 1998; 25 : 398-400

2. Bagchi I, Nycyk JA. Familial spontaneous pneumothorax.ArchDis Child Fetal Neonatal Ed. 2002; 87 : F70

3. Kugelman A, Riskin A, Weinger-Abend M, Bader D. Familialneonatal pneumothorax associated with transient tachypnea ofthe newborn. Pediatr Pulmonol 2003; 36 : 69-72.

4. Yu VY, Liew SW, Robertson NR. Pneumothorax in thenewborn: Changing pattern.Arch Dis Child 1975; 50 : 449-453.

5. Steele RW, Metz JR, Bass JW, Dubois JJ. Pneumothorax andpneumomediastinum in the newborn. Radiology 1971; 98:629-632


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Familial Spontaneous Pneumothorax in Neonates

Indian Journal of Pediatrics, Volume 72May, 2005 447

6. Faber EE. Spontaneous pneumothorax in two siblings.Hospitalstid1921; 64 : 573574.

7. Wilson WG, Aylsworth AS. Familial spontaneouspneumothorax. Pediatrics 1979; 64 : 172-175.

8. Morrison PJ, Lowry RC, Nevin NC. Familial primaryspontaneous pneumothorax consistent with true autosomaldominant inheritance. Thorax 1998; 53 : 151-152.

9. Abolnik IZ, Lossos IS, Zlotogora J, Brauer R. On the

inheritance of primary spontaneous pneumothorax.Am J MedGenet 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 J1990; 3 : 342-345.

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, Al-Hathlol K, Abu-Laimun B. Symptomatic spontaneous

pneumothorax in term newborn infants. Pediatr Pulmonol 2004;37 : 443-446.

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3. Applicant should submit a copy of the research paper to be presented at the conference along with the letter ofacceptance by the conference organizers.

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For i nformat ion please w ri te 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

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Department of Genetic Medicine,Sir Ganga Ram Hospital

Rajinder Nagar, New Delhi 110060Telephone Nos : Direct 011-25861767; EPABX 25861463/25735205 ext. 1382.

Fax No. 011-25861767 or 26589434. E-mail : [email protected]

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 Prenat al D i agnosi s Enquire for Requir ement s & 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 diagnosis5 ml EDTA blood; Biochemical Enzyme assays 8 ml EDTA blood; Chromosomal studies 3 mlHeparin blood; Aminoacids/Organic acids 15 ml of morning specimen of urine

For further information Contact Staff ofDept. 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

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