• PDF / 170,736 Bytes
• 1 Pages / 595.245 x 841.846 pts (A4) Page_size
• 22 Downloads / 268 Views

DOWNLOAD

REPORT

---

1 S

No clinical improvement and no response: case report A male infant [exact age at onset not stated] exhibited no clinical improvement during treatment with unspecified diuretics for pulmonary hypertension. Later, he showed no response to treatment with nitric-oxide for pulmonary hypertension. The boy (at 36 days of life), who presented to a paediatric emergency department due to multiple episodes of vomiting and poor weight gain, was noted to have grade III systolic murmur, intercostal retractions, tachypnoea, mild hepatomegaly and occasional difference in SpO2. Also, he had mild craniofacial anomalies, and neurological examination showed central hypotonia and abnormal neonatal reflexes. An echocardiogram revealed severe pulmonary hypertension along with right ventricular and main pulmonary artery dilatation, haemodynamically significant patent ductus arteriosus with left to right shunting and secundum atrial septal defect. Therefore, he was hospitalised, and he started receiving diuretics, without any clinical improvement. He also developed multiple episodes of focal seizures along with impaired consciousness, which were well‐controlled with phenytoin and levetiracetam. He also had severe hypocalcaemia and hypophosphataemia with high parathyroid hormone levels, for which he required treatment with calcium gluconate. He had persistent tachypnoea and short episodes of desaturation, due to which he underwent a CT angiography, which showed dilated pulmonary artery cone, right pulmonary artery (RPA) agenesis and ground‐glass opacification of both the lung fields mostly on the right. These findings were confirmed on cardiac catheterisation, which also showed collateral aortopulmonary circulation. A chromosomal microarray revealed a loss of 2.6 Mb of the 22q11.2 region, which includes the TBX1 gene, and whole‐exome sequencing demonstrated heterozygous SOX10 mutation and homozygous proline dehydrogenase mutation. A diagnosis of 22q11.2 deletion syndrome and isolated RPA agenesis causing severe pulmonary hypertension was made. Twenty‐five days following hospitalisation, he required intubation and mechanical ventilation, with a high oxygen requirement in the paediatric ICU. Initially, he received furosemide and sildenafil. Then, he started receiving inhaled nitric oxide 20 ppm along with supplemental oxygen; however, he exhibited no response. Therefore, nitric oxide and oxygen were discontinued after 5 days due to no response. Then, he started receiving epoprostenol; however, his condition deteriorated. He died [cause of death not stated] after a few weeks. Christou E, et al. Unilateral pulmonary artery agenesis in an infant with 22q11.2 deletion syndrome. Pediatric Pulmonology 55: 2184-2186, No. 9, Sep 2020. Available from: 803503830 URL: http://doi.org/10.1002/ppul.24867

0114-9954/20/1823-0001/$14.95 Adis © 2020 Springer Nature Switzerland AG. All rights reserved

Reactions 26 Sep 2020 No. 1823