Gunther’s Disease

60 years female patient unmarried Resident of remote mountainous region of northern Pakistan is admitted via OPD as a case of leprosy with nasal septum deformities and bilateral upper limbs digits deformities.
So This patient was admitted for workup of Anaemia , persistent hematuria , Acute kidney injury and shortness of breath and abdominal distention .
General physical examination shows thin pale ill looking female with red dry eyes and increased facial hair along with prominent and elongated canine teeth with nasal septum deformity and digits auto amputation bilaterally, with gross ascites, Bilateral pitting pedal oedema, reddish urine and low Blood pressure with Anaemia. Systemic examination showed splenomegaly, with ascites and bilateral decreased air entry at bases of the lungs. Echocardiography show cor pulmonale with RVSP of 54 and abdominal ultrasound showed splenomegaly. Creatinine was 3.4 with Hb of 8.9 and ALT of 212 with SBR of 3.2.
Dermatology department was consulted for opinion and they advised to consider a very rare disease CEP as the primary diagnosis since the features were all matching with this entity. Finally diagnosis was confirmed to be CEP by clinical signs and raised uroporphyrin level 1 and coproporphyrin 1. Unfortunately we lost the patient secondary to septic shock in spite of good antibiotic coverage and inotropic support as patient was having persistent Hypotension with worsening AKI.
The unique presentation of this case in the form of splenomegaly, Ascites, Anaemia, Nasal septum and digits amputation along with positive childhood history for blisters according to the family and presumptive diagnosis of leprosy made it a challenging case well deserving to be in the category of rarest medical case in our region. Similarly it also highlights the positive role of thinking in internal medicine diagnosis as well as the value of interdepartmental consultation that could well save the resources and improve patient care at tertiary level. The lesson learned in this case is to promote awareness about negative aspects of consanguinity which is practiced at much higher frequencies in our community in-order to avoid congenital diseases.