Congenital sodium diarrhoea caused by rare de novo activating guanylate cyclase mutation.

A male infant with prenatal history significant for polyhydramnios requiring multiple amnioreductions with suspicion of small bowel atresia was born at 31 weeks 5 days' gestation with abdominal distension. He underwent three exploratory laparotomies and ileostomy for small bowel obstruction and was found to have fluid-filled intestinal dilatation. Serum and stool chemistries suggested sodium secretory diarrhoea. A rapid whole-exome sequencing confirmed de novo guanylate cyclase mutation variant as a cause for his congenital sodium secretory diarrhoea. He required large volume of fluid and electrolyte replacement along with total parenteral nutrition. Several medications to restore normal sodium homeostasis by targeting molecular mechanisms and pathogenesis described in previous literature failed to decrease stool output and electrolyte loss. He was discharged home at 11 months of age on total parenteral nutrition and weekly iron therapy.

Lobular capillary hemangioma of the neonatal larynx.

OBJECTIVE: To describe a previously unreported condition of the neonatal larynx. DESIGN: Case series of 4 neonates with an uncommon laryngeal lesion. SETTING: Tertiary care children's hospital. PATIENTS: Four neonates in the first 10 days of life with stridor, hoarseness, and respiratory distress. INTERVENTION: The patients were examined using flexible fiberoptic laryngoscopy, and laryngeal lesions were identified and subsequently removed using microlaryngoscopy. Photodocumentation of the lesions was performed. Microscopic evaluation of biopsy specimens by a pathologist followed. MAIN OUTCOME MEASURES: Each patient's medical record was carefully reviewed for prenatal history, birth history, neonatal history, pathologic findings, and office follow-up. RESULTS: All 4 neonates were delivered atraumatically and developed symptoms of upper airway obstruction within the first few minutes to days of life. Each neonate was found to have an obstructive laryngeal lesion requiring surgical intervention. No child had other congenital abnormalities or a history of obvious laryngeal trauma. Pathologic review of each laryngeal specimen revealed inflammatory lesions with characteristic features of a lobular capillary hemangioma (or a pyogenic granuloma). CONCLUSIONS: The diagnosis of a lobular capillary hemangioma of the larynx should be considered in the differential diagnosis of a newborn with stridor, hoarseness, or respiratory distress. The cases seem to be of congenital origin, although acquired pathogenesis cannot be ruled out. Treatment of these lesions includes microscopic surgical excision.