A Case of Congenital Erythropoietic Porphyria without Hemolysis
An eleven month old female child, born of a primigravida mother of non-consanguinous marriage came to us with history of recurrent blisters face and upper limbs since two months of age. Gradually blisters appeared on scalp, feet, neck and shoulders. Some of the blisters were at the healing stage []. Mother also noticed red colored urine for last three months. Birth and developmental history were normal. There was no similar illness in the family.\nHer pulse rate was 102/min, blood pressure was 84/58 mm of Hg. and respiratory rate was 25/min. Her weight was 7.9 kg, length was 70 cm and head circumference was 45 cm. There was some pallor. Blisters were present on scalp, face, upper and lower limbs with atrophic scars on scalp and upper limbs along with alopecia. Copper-red discoloration of the two erupted teeth was noted []. There was no hepatosplenomegaly. Neurological examination was normal. On the basis of infancy-onset blistering over sun-exposed areas, atrophic scars, red colored urine and teeth without neurological involvement and evidence of arthritis, we reached the provisional diagnosis of CEP.\nComplete blood count showed mild anemia; Hb-9.2 mg/dl, total leucocyte count-8,200 and platelet count of 1.4 lac/cumm. On peripheral smear anemia was microcytic, hypochromic in type. But, reticulocyte count was 1.2% of circulating erythrocytes (normal upto 2%). Liver and renal function tests were normal. ELISA for HIV was negative. Urinary porphobolinogen was absent. But, on screening test with a spectrophotometer urinary total porphyrin level was 1023 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty four hours urinary and faecal level of uroporphyrin and coproporphyrin were also significantly elevated. The erythrocyte porphyrin level was 115.3 mcg/100 ml using the haematofluorometric method (normal value < 40 mcg/100 ml). Bright red fluorescence was also noted in the urine, teeth and blood under wood's lamp. So, a final diagnosis of congenital erythropoietic porphyria was made. Demonstration of deficiency of UROS activity and genetic study could not be performed due to lack of laboratory facilities.