The index patient is the second child of healthy,
nonconsanguineous parents. She is 25 years old and a nonsmoker. She has
experienced attacks of diarrhea from the age of 14 years; generally,
the diarrhea has been related to eating disorders and anxiety, for
which she has been treated. Results of gastroscopy and colonoscopy have
remained normal. The age of menarche was 15 years, and no relationship
between primary spontaneous pneumothorax and menstruation was present.
She has not had pelvic pain, and findings of gynecologic examinations,
including transvaginal ultrasound, have remained normal. From the age
of 17 years, she has experienced spontaneous pneumothorax three times
in the left and right lungs. A left-sided pneumothorax developed when
she was 19 years, and because of slow resolution, it was treated with
plication of the bleb and pleurodesis. Reoperation was needed 2 years
later when the apical segment of the left lung was removed. The
histologic diagnosis of the removed lung tissue was inconclusive. At
the age of 21 years, the patient was examined for episodes of headache.
Neurologic findings and EEG and head CT results were normal. The last
attack of pneumothorax occurred at the age of 23 years, when
high-resolution CT showed one solitary bulla (diameter, 1 × 2.5 cm)
in the left lung. Spontaneous remission occurred. Ultrasound findings
of the patient’s upper abdomen and heart were normal. Her
ophthalmologic status was also normal. Blood levels ofα
1-antitrypsin were within reference values
(2.09 g/L), and the phenotype was MM.