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Lack of efficacy: case report A girl [exact age at the time of reaction onset not stated] exhibited lack of efficacy during treatment with dexamethasone for neonatal respiratory distress syndrome and sildenafil for pulmonary hypertension secondary to neonatal respiratory distress syndrome [routes and dosages not stated]. The girl was born at 36 weeks of gestation by caesarean section to a primigravida mother. Her weight was 2800 gram with an Apgar score of 8 at 1 minute and 9 at 5 minutes. After the birth, she developed neonatal respiratory distress syndrome (RDS) requiring nasal continuous airway pressure (nCPAP). Later, she was intubated. Thereafter, a chest x-ray was performed which revealed bilateral hazy lungs with reticulogranular pattern. Echocardiography of heart showed persistent pulmonary hypertension. She was referred to a tertiary care centre at 24 hours of life. Due to high ventilation needs and hyaline membrane disease, surfactant therapy was initiated. She showed a response to surfactant and ventilation setting came down. However, at 36 hours of admission, her condition deteriorated with desaturations and hypotension. Therefore, ventilation settings were increased. She also received fluid bolus and inotropes therapy. At the age of 3 days, a chest x-ray was performed which showed pneumomediastinum. She continued to remain on high-frequency ventilation. At the age of 13 days, a repeat chest x-ray was performed which was consistent with RDS. Her ventilation requirement decreased with a repeat dose of surfactant. She was continued on high-frequency ventilation. She showed a transient response to surfactant every time. Hence, based on these investigations, the inherited disorder of surfactant metabolism was considered. Gene analysis for surfactant protein B (SFTPB) deficiency was initiated and lung biopsy was performed and results were awaited. She continued to remain on high frequency ventilation with mean arterial pressure requirement of 15–18cm H2O. Her oxygenation index was in the range of 18–24. Echocardiography showed tricuspid regurgitation with the pressure difference between right ventricle and atrium of approximately 40mm Hg. Thus, she started receiving nitric oxide on the eighteen day of life. Her oxygen level did not improve significantly with nitric oxide therapy and at the age of 23 days, nitric oxide was discontinued. A trial of low-dose of dexamethasone was initiated to facilitate extubation, but with no effect. She received sildenafil for some days, but no improvement was noticed. Thereafter, the man’s whole-exome gene sequencing and lung biopsy were received. The findings of histopathology and electron microscopy pointed towards mutation in the gene encoding for ABCA3 protein. The whole-exome sequencing showed a homozygous missense mutation in exon 12 of the ABCA3 gene. Histopathology of lung biopsy revealed diffuse-type II cell hyperplasia with foamy macrophages. At the age of 100 days, she died due to cardiac arrest. Gupta NP, et al. Novel homozygous missense mutation in ABCA3 pro