Huria Zahra, resident of Skardu started passing reddish urine soon after birth. She was reviewed by local GP who diagnosed it as haematuria and gave symptomatic treatment but symptoms persisted. Parents noticed brownish discoloration of erupted tooth and sought review of dental surgeon but no diagnosis was made.

Once Huria started walking and was exposed to sunlight, she began to develop skin blistering and scarring. She was reviewed by child specialist and referred to AFBMTC with suspicion of Congenital Erythropoietic Porphyria. Her investigations showed serum Coproporphyrin I > 1472 ug/L (0-15), Coproporphyrin III > 55 ug/L (0-49), Uroporphyrin 1060 ug/L (0-20). Her clinical presentation and laboratory findings were suggestive of Congenital Erythropoietic Porphyria (CEP).

He was planned for HSCT with his fully HLA-matched brother. He was transplanted on 24/01/2018. BMT conditioning was done with Bu^16mg/kg Cy^{160 mg/kg}

Post-transplant period was unremarkable. Neutrophil engraftment was achieved on Day+15. The patient was discharged after her neutrophil recovery and was advised weekly follow up in OPD.