2 August 2018 (Thursday) - Pearson's Syndrome





Kirk James T         X1234567           25.12.14 M DCCNT  Dr Kildare
H,18.4314853.Y       U 31.07.18  Clin. det. pearson syndrome                  
DIFF Microscopy (Maids)          Diagnosis                                     
--------------------------------------------------------------------------------
            HBM   WBCM    PLT    HCT   RBCM   MCVM   MCHM  MCHCM    RDW      N
160518 F     65   3.32     54  0.186   1.99   93.5   32.7    349   18.0   0.49
120618 F     92   3.62     81  0.276   2.81   98.2   32.7    333   22.9   0.66
030718 F     93   4.43     78  0.282   2.66  106.0   35.0    330          0.82
310718 F     89   4.34     37  0.257   2.48  103.6   35.9    346   20.1   0.62

              L      M      E      B   RETP   RETA    IRF    NUC     GF    ESR
160518 F   2.57   0.23   0.02   0.01    2.8  56.10   24.6                    
120618 F   2.60   0.26   0.08   0.02                                          
030718 F   3.32   0.21   0.07   0.01                                         
310718 F   3.41   0.22   0.08   0.01    1.2  28.80   16.0                    
--------------------------------------------------------------------------------
  WBCM     N     L     M     E     B   MET   MYE   PRO BLAST   NUC
        (3)   (2)   (1)   (.)   (0)   (4)   (5)   (6)   (9)  #(7)
   0     0     0     0     0     0     0     0     0     0     0
   4.3   0.0   0.0   0.0   0.0   0.0   0.0   0.0   0.0   0.0   0.0

Note ongoing neutropenia and thrombocytopenia
Blood film shows anisopoikilocytosis with some polychromasia
and some spherocytes seen.


Pearson syndrome is a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction. Other clinical features are failure to thrive, pancreatic fibrosis with insulin-dependent diabetes and exocrine pancreatic deficiency, muscle and neurologic impairment, and, frequently, early death. It is usually fatal in infancy. The few patients who survive into adulthood often develop symptoms of Kearns-Sayre syndrome.

It is caused by a deletion in mitochondrial DNA. Pearson syndrome is very rare, less than hundred cases have been reported in medical literature worldwide.​

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