OBJECTIVE To review the outcome of patients with pathogenic variants in FLNA and progressive lung disease requiring lung transplantation. STUDY DESIGN We conducted a retrospective chart review of six female infants with heterozygous presumed loss of function pathogenic variants in FLNA whose initial presentation was early and progressive respiratory failure. RESULTS Each patient received lung transplantation at an average age of 11 months (range: 5 to 15 months). All patients had pulmonary arterial hypertension and chronic respiratory failure requiring tracheostomy and escalating levels of ventilator support prior to transplantation. All six patients survived initial lung transplantation; however, one patient died after a subsequent heart-lung transplant. The remaining five patients are living unrestricted lives on chronic immunosuppression at most recent follow-up (range: 19 months to 11.3 years post-transplantation). However, in all patients, severe ascending aortic dilation has been observed with aortic regurgitation. CONCLUSIONS Respiratory failure secondary to progressive obstructive lung disease during infancy may be the presenting phenotype of FLNA-associated periventricular nodular heterotopia. We describe the largest cohort of patients with progressive respiratory failure related to a pathogenic variant in FLNA and present lung transplantation as a viable therapeutic option for this group of patients.

Children's interstitial lung diseases are rare diffuse lung diseases resulting from a variety of pathogenic processes that include genetic factors, association with systemic disease processes, and inflammatory or fibrotic responses to stimuli. There are unique causes and presentations seen in infancy. Diagnosis in these disorders is made by the summation of clinical, radiologic, and pathologic findings.

Background: Low treatment completion rate in tuberculosis (TB) patients is a major concern. Physicians have always been striving for better treatment adherence in such patients. The present study is one such attempt in this direction. Objectives: The study was aimed to evaluate the role of behavior modification by psychotherapy in improving compliance with short-course anti-TB chemotherapy in India. Methods: It was a prospective controlled trial involving patients with confirmed pulmonary and extrapulmonary TB enrolled in the National Tuberculosis Program. The intervention group underwent pretreatment psychological assessment followed by regular psychotherapy sessions. Results: The intervention group had a demographic profile comparable to that of the control group. The patients were mostly from low- and middle-income backgrounds from urban and semi-urban areas. They consistently showed poor knowledge about the nature of the disease, low motivation, and had considerable apprehensions. Following the sessions, the intervention group showed improved compliance compared with the control group, reflected in significantly higher treatment completion and cure rates. Conclusions: The study suggests that psychological intervention is effective in improving compliance with anti-TB treatment, and may reduce the incidence of treatment failure, relapse and drug resistance.

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