Thanatophoric Dysplasia (TD) is a severe skeletal dysplasia that is lethal in the neonatal period. There are two defined TD subtypes which have been classified clinically. The incidence is approximately 1/20,000 to 1/50,000. Type I TD being more frequent than Type II. Most individuals with TD die within the first few hours.This condition has characteristic sonographic features detected antenatally by midgestation, although distinction from other short-limbed dysplasia syndromes may be difficult. We report a case of type I TD with typical clinicoradiological features who succumbed within one hour of life.J Nepal Paediatr Soc 2015;35(3):304-306.

No abstract

Acute-onset ophthalmoplegia is a perplexing diagnosis in a young child. When the full-blown picture of ophthalmoplegia, ataxia, and areflexia is evident, the diagnosis of Miller–Fisher syndrome (MFS), a variant of Guillain–Barre syndrome (GBS), is almost certain. However, the same is not true for isolated external ophthalmoplegia as it is etiologically heterogeneous. Only anecdotal case reports of childhood-onset acute ophthalmoplegia exist in the literature. Adult series suggest that acute onset external ophthalmoplegia is often immune-mediated and is secondary to anti-GQ1b antibodies. We present a 30-month-old boy with acute-onset bilateral external ophthalmoplegia with highly elevated serum anti-GQ1b antibodies. The child had a rapid and complete recovery with intravenous immunoglobulin. A review of all published cases of childhood anti-GQ1b antibody syndrome was performed. The case highlights that anti-GQ1b antibody syndrome should be considered even in young children with acute-onset external ophthalmoplegia. The disease has a favorable prognosis. The majority improve on conservative management. Treatment with steroids or IVIG may be considered in some after weighing the risks and benefits.

A common upper airway and digestive tract is a rare congenital anomaly that is usually fatal and its exact incidence is not known. It is a diagnostic challenge as it requires high index of suspicion. It should be considered in a neonate with respiratory distress in a non-vigorous baby requiring endotracheal intubation, which is difficult even in expert hand. We present a newborn with suspected tracheo-esophageal fistula that was diagnosed intraoperatively to have absent upper blind pouch of the esophagus and on autopsy found to have laryngeal atresia with absent vocal cords and a common aerodigestive tract continuing distally with trachea. The neonate was ventilated with endotracheal tube (ETT) placement which in retrospect we came to know that it was in the esophagus. The neonate also had associated multiple congenital anomalies of VACTERL association. The importance of teamwork between neonatologist, pediatric surgeon, anesthesiologist, and radiologist is highlighted for diagnosis and management of such rare cases.

No abstract