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Pulmonary veno-occlusive disease (PVOD) is a rare chronic lung disease that is difficult to diagnose due to non-specific clinical findings. Little is known about the pathogenesis of PVOD. Reported herein is the case of an 11-year-old girl who initially presented with 'bat-wing' shadows on chest radiography. This finding, coupled with prominent hemosiderosis in bronchoalveolar lavage fluid, initially led to a misdiagnosis of idiopathic pulmonary hemosiderosis. Oral prednisolone dramatically improved signs and symptoms initially, but her condition then gradually deteriorated during maintenance therapy with corticosteroids and other immunosuppressants. PVOD was suspected but not confirmed owing to a lack of hallmark radiographic findings and contraindications for lung biopsy. Three years later, while arranging for lung transplantation, the patient experienced sudden onset of fatal massive pulmonary edema. PVOD was confirmed at autopsy. This case provides insights regarding an unfamiliar presentation of PVOD and may help physicians to avoid diagnostic pitfalls.

We report the case of a 3-year-old Japanese boy with phosphoglycerate kinase 1 (PGK1) deficiency (Online Mendelian Inheritance in Man entry 311800). The patient had anaemia and jaundice at birth, necessitating exchange transfusions for 2 d. After one red blood cell transfusion at age 2 months, his Hb level was 8-9 g/dl, his reticulocyte counts were 300-500 x 109/l, and his total bilirubin level was 25.65-42.75 micro mol/l. The patient suffered two episodes of respiratory infection-associated haemolytic crisis and rhabdomyolysis during early infancy. At age 3.0 years, his developmental milestones (developmental quotients measured using the Tsumori-Inage methods) score was 49% (normal 74-131%), and his height was below average by -2.0 standard deviations. The diagnosis of PGK1 deficiency was made based on his remarkably low ( C) PGK1 gene mutation. This mutation results in the Ala-353Pro amino acid substitution, which has been designated PGK Kyoto. The patient developed the full clinical symptoms of PGK1 deficiency including haemolytic anaemia, myopathy, central nervous system disorder and growth retardation, which is unusual.