Priapism in a Child from Homocystinuria from Methylenetetrahydrofolate Reductase MTHFR (C677T) Mutation

Priapism is a prolonged involuntary erection that can have severe complications if left untreated. Ischaemic priapism very rare in children and requires urgent intervention to prevent permanent erectile dysfunction penile shortening. It be caused by ischaemia sickle cell anaemia, leukaemia, trauma, drugs, or idiopathy. Homocystinuria autosomal recessive disorder cause hyperhomocysteinemia hypercoagulability. Very few reports suggested hyperhomocysteinemia, they were adults. However, we present the first of such case best our knowledge prepubescent child who only had MTHFR (C677T) mutation causes homocystinuria ischaemic priapism. A nine-year-old Syrian Arab boy was presented with lasted for hours. Blood tests show normal blood count, film, haemoglobin electrophoresis. prothrombin time, partial thromboplastin homocysteine level, C-reactive protein elevated. Other coagulation within range. Doppler ultrasonography found decreased cavernous flow, warm 0.9% saline lavage cavernosa indicated successfully treated Genetic testing homozygous later confirmed, warfarin indicated. In conclusion, priapism, this report phenomenon child. Ultrasonography low-income countries an essential tool helps identify wide variety medical conditions as managed aspiration saline.