ESPE Abstracts

Raine Syndrome (RS) caused by biallelic loss-of-function mutations in FAM20C gene and characterized by hypophosphatemia, typical facial and skeletal features. RS usually lethal during neonatal period due to severe respiratory distress. However, a non-lethal RS form existed with very limited description in literature.

Objective: To increase awareness about non-lethal RS form.

Case Description: Currently Twelve-Year old female child. In neonatal period she has natal tooth which removed and protruded eyes, however, ruled out any pathology. The head CT scan and MRI showed extensive intraparenchymal calcification. She has gum abscess required medical and surgical intervention. At age of 3 months, she has hepatomegaly, high cholesterol and hypocalcemia, resolved as she grown up. At age of 9 months she has clinical, biochemical and radiological features of hypophosphatemic rickets. The whole exome sequencing, reported as A homozygous variant identified in FAM20C gene. The diagnosis of autosomal recessive Raine syndrome was confirmed. She was started on conventional therapy for hypophosphatemic rickets with multiple phosphate doses per day and alfacalcidol. As the child grown up, she showed more skeletal and non-skeletal manifestation of RS. She continued to have gum abscess with abnormal tooth eruption. She has short stature lower limps genu valgum, limps asymmetry and thoracic scoliosis. She also has recurrent adenoid hypertrophy. Skeletal survey at age of Nine years showed no evidence of osteosclerosis. Ultrasound abdomen showed hepatomegaly with coarse texture features and no nephrocalcinosis. The serial biochemical findings are listed in table 1. The family of the child got another child with same clinical and radiological findings of described case. In addition, the new baby has choanal atresia requires tracheostomy and premature closure of skull sutures requires surgical intervention.

Conclusion: The case described has longest follow up reported in the literature for non-lethal form of Raine Syndrome.