Case Progression:
After attempts to pass a nasal gastric (NG) tube were unsuccessful, a chest x-ray and bronchoscopy confirmed esophageal atresia, proximal tracheoesophageal fistula (TEF) and a T5 hemivertebrae. He also had an inferior iris and chorioretinal coloboma affecting his left eye as well as a small atrioseptal defect (ASD). He had single palmar creases but no limb anomalies and he did not show anal atresia. His TEF was repaired on the second day of life. Microarray and CHD7 sequencing were unrevealing. He was discharged home at 3-1/2 months old on NG feeding. He was re-admitted at 8 months old for investigation of vomiting and noted to have a hiatal hernia and dilation of his distal esophagus requiring surgical repair. A gastrostomy tube was inserted at this time, and he was subsequently transitioned to continuous gastro-jejunal (GJ) feeds to improve tolerance.
At 15 months old (13-1/2 months corrected gestational age) he was reassessed for developmental delay. He was able to roll to each side, but not completely over. He was able to remain sitting independently for up to 2 minutes when placed in a seated position. He was not able to bear weight on his legs or take independent steps. He had a bilateral pincer grasp and could bring a spoon to his mouth. He babbled but did not yet have any spoken words. His examination showed decreased muscle bulk, hypotonia and areflexia. Subsequent testing confirmed spinal muscular atrophy (SMA) with 0xSMN1 and 3xSMN2 copies. He was started on salbutamol as a treatment for SMA at 21 months old.
Challenge Point: The patient was subsequently noted to have developmental delay. Examination was notable for decreased muscle bulk, hypotonia, and areflexia. Genetic testing confirmed the diagnosis of SMA, and he was started on salbutamol.