Multidisciplinary care in a complex case
Dr Joepaul Joy, Dr Sheela Nampoothiri, Dr Dhanya Yasodharan(Pediatric genetics), Dr C Jayakumar, AIMS Kochi
Three year old male child, first born of non consanguineous marriage, delivered normally birth weight of 3.9kg presented to Genetics OPD with complaints of five times lower limb fractures. First fracture occurred after one year of age and all other fractures occurred were after trivial trauma. All these fractures were in the femur on both the sides. It was surgically managed in the near hospital. Child was developmentally normal.
Following differentials were considered
- Osteogenesis imperfecta
- Hypophosphatasia
- Osteopetrosis with renal tubular acidosis
On examination child was active, alert.
Auxology
Weight of 15kg/14kg
height- 107cm/95cm and HC-50cm.
There was no Dentinogenesis imperfect or blue sclera. Other systemic examination werewithin normal limits. Xray of lower limbs showed healed fractures of bilateral femurs. Whole exome sequencing was done for the child. It showed homozygous mutation in the Exon4 of the SERPINF1 gene with autosomal recessive inheritance. Parental segregation is awaited. He was started on Inj Pamidronate and oral calcium. The child is being followed up.
Osteogenesis imperfecta (OI)is a heterogenous group of inherited disorders of bone formation resulting in low bone mass, bone fragility, and increased propensity to fracture. The majority of OI is caused pathogenic variants in genes encoding type 1 collagen with an AD patternof inheritance. OI remains a clinical diagnosis, although improvements in imaging and access to genomic testing have allowed refining of the type of OI and genotype-phenotype correlation. Extraskeletal features include blue/greyish sclera , hearing loss, skin hyperlaxity, joint hyperextensibility and dentinogenesis