Dear Dr. Darbyshire
Dear colleagues
This letter concerns a patient seen in your center in 2006 with final diagnosis of Evans Syndrome with auto-immune haemolytic anaemia , neutropenia and thrombocytopenia, possible underlying ALPS.
Since she returned from UK gradually she was take off CSA and prednisolon tapper off to the sum of 2.5 g every other day at present.
In 28-11-07 she started complaining of abdominal pain , Hb 10.7 g and occasional rectal bleeding , stool positive for occult blood .
she was seen by PED GE rectoscopy biopsy reported and IBD , R/O crohn's disease. She was given special diet , omeprazole plus Ca , taken off dairy products , dried fruit ,nuts , eggs , soya .symptoms improved , she was doing well ,until 04.11.09 when she had rectal bleeding , therefore she had another rectoscopy & biopsy reported as active IBD ulcerative colitis , no dysplasia , no granulona , and she was treated by PED. GE with high dose of prednisolon , mezalozine , & later she was back in 2.5 g. prednisolon every other day again .
In April 2010 she was seen with c.c. of blurred speech, problem in walking and RT hemiparesis normal DTR but poor muscular strength .she was seen by pediatric neoralogist had MRI . reported as cerebellar atrophy. He thinks these are part of her immune system problem .
Please advice what else we could do for this child and the worried family.
Any work up you suggested .
Looking forward to hear from you.
Yours sincerely ,
P.VOSSOUGH , M.D.
PROFESSOR OF PEDDIATRIC HEMATOLOGIST AND ONCOLOGIST
She is a 7 year old. Her brother died 9 years ago due to fever & Hepatosplenomegaly that lab finding was compatible with HLH . Our patient was presented in infancy with neutropenia & rash. She was worked up for Immunodeficiency at the time & result was normal. After that she showed thrombocytopenia & went to UK & was hospitalized for 9 months. In that center worked up for immunodeficiency was negative.Because of thrombocytopenia & anemia & splenomegaly ,Evan’s syndrome or ALPS syndrome was suggested & was discharged with Cyclosporine & Prednisolone .Her disease was under control .she has showed ataxia from one year ago .she was worked up for causes of ataxia & all of them were normal. In MRI she showed Cerebellar Atrophy.patient was screened for Immune system defect again & result was normal .at the moment she has ataxia & some attack of leukopenia & thrombocytopenia.
We suggest autoimmune mechanism for ataxia & because recurrent auto immune disease ALPS is suggested by us.
Zahra Chavoshzadeh
Pediatric Immunologist
