[CIS PIDD] [cis-pidd] Consanguineous sideroblast anemia, nonspecific hypogamma (1+3+4), lo smBs, mild neurologic deficit, pubertas praecox, cafe au lait, childhood non-insulin DM, epilepsy

[Seppänen Mikko]

Dear all,

we have a curious 23-y old Romani patient at follow up, to whose syndrome me andour geneticists are not able to find a yet -defined name. His parents are cousins, consanguinity thus ++.

He has had anemia since childhood, pubertas praecox, sideroblast anemia noted after puberty, ring sideroblasts+ in BM,, had childhood epilepsy, mild neurologic deficit, cafe au lait and nonspecific hypogamma (vaccine responses normal, IgG 4.0-4.8, IgG1+3+4 low, IgG2 normal arguing against MSH6/PMS2, recurrent upper and lower RTIs), early onset type II diabetes without obesity. Lymphocyte differential (CD19, CD4, CD8, CD16/56) completely normal, no other cytopenias except the anemia. B+smB-21norm, nsmB: 0.53% of lymphocytes, smB: 0.28% of lymphocytes.

The syndrome is thus quite distinct, classical karyotype and CGH/molecular karyotype were both normal. No light chain disease.

Any suggestions? Have You seen a similar patient (finding another would very easily trigger exome seq)? If so, please inform us, if You have found the cause or would like to hunt for one?

Yours

Mikko Seppänen, MD
Finland

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