Contributed by: Dr. Shubha R Phadke  
  This male patient presented with spontaneously resolving recurrent edema of different body parts. In this episode of severe facial edema, infusion of fresh frozen plasma was effective in recovery.  

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Answer to PhotoQuiz 32
Mucolipidosis Type II (I cell disease) (OMIM # 252500)
Mucolipidosis type II, also known as I cell disease, is an autosomal recessive lysosomal storage disorder characterized by coarse facies, growth retardation, psychomotor retardation, skeletal abnormalities and cardiomegaly. It is caused by a defect in the phosphorylation and intralysosmal localization of lysosomal enzymes, which leads to very significant elevation of the levels of these enzymes in the plasma. It results from homozygous or compound heterozygous mutations in the GNPTAB gene on chromosome 12q23.2.
Correct responses were given by:
1. S. Beena, Chennai
2. G. Aruna, Vellore
3. Poonam Singh Gambhir, Lucknow
4. Mohandas Nair, Kozhikode
5. Sheetal Sharda, Surat
6. Ashish Gupta, New Delhi
7. Jai Prakash Soni, Jodhpur
8. Jayaprakash KP, Kottayam