[CIS PIDD] [cis-pidd] Peruvian 10-yr-old girl with recurrent severe pancytopenia, and physical/mental retardation

[Kate Sullivan]

The cycling is atypical but if she has a disproportionately small cerebellum I would think about DKC.

Kate Sullivan
Sent from my iPhone


> On May 10, 2014, at 1:29 AM, Juan Carlos Aldave Becerra <jucapul_84 at hotmail.com> wrote:

> 

> Dear professors,

> 

> I evaluated this week a 10 yr-old girl with a very puzzling clinical picture. I describe below the clinical history.

> 

> The main features are:

> - Recurrent severe pancytopenia, predominantly of the myeloerythroid lineage.

> 

> - Physical and mental retardation with cerebral atrophy and microcephaly.

> 

> - Residual bronchiectasis

> 

> 

> I would appreciate your expert insights and suggestions.

> Thank you very much.

> 

> Sincerely,

> 

> Juan Carlos Aldave, MD

> Allergy and Clinical Immunology

> Hospital Nacional Edgardo Rebagliati Martins

> Lima, Peru

> 

> -----------------------------

> Girl, 10 yrs of age

> 

> Date of birth: August 11th 2004

> 

>  

> 

> FAMILY HISTORY:

> 

> -       No family members with suspicion of PID.

> 

> -       No siblings, healthy parents (50 and 51 yrs of age).

> 

> -       The maternal 1st grade female cousin of the patient's mother died due to "aplastic bone marrow".

> 

> -       No consanguinity.

> 

>  

> 

> PERSONAL HISTORY:

> 

> -       Intrauterine growth retardation

> 

> -       Weight at birth=1,720 g (gestational age=7.5 months)

> 

> -       No adverse reactions to live vaccines, including BCG

> 

> -       Current weight=18 kg (below P3 for age)

> 

> -       Current height=114 cm (below P3 for age)

> 

> -       Local adverse reactions to mosquito bites.

> 

>  

> 

> CURRENT DISEASE:

> 

> -       Apparently healthy up to 11 months of age.

> 

> 

> 

> -       From 11 months of age: recurrent episodes of severe thrombocytopenia (up to less than 1,000 platelets/μL), neutropenia (up to less than 100 neutrophils/μL) and anemia (up to 6 g/dL, low reticulocyte counts); in some episodes there also was mild-moderate lymphopenia (~1,000 lymphocytes/μL). Please see the table below for detailed CBCs during some episodes).

> 

> ·      Duration of the episodes: 3 to 4 weeks, and resolve spontaneously.

> 

> ·      Frequency of the episodes: every 7 to 21 months.

> 

> ·      Total number of episodes in the patient's life: twelve (February 2005, September 2005, April 2006, December 2006, September 2008, February 2010, September 2010, July 2011, November 2012, July 2013 [only thrombocytopenia], October 2013 [only neutropenia], the last episode started 2 weeks ago).

> 

> ·      Clinical features during the episodes:

> 

> §  Total alopecia (hair grows again after the episodes), high fever, vomiting, hiporexia, diarrhea, petechiae, mucosal bleeding, oral candidiasis, elevated ESR (~40 mm/h).

> 

> §  Parents note that despite all these clinical features the patient does not appear acutely ill during the episodes.

> 

> §  No lymphadenopathies, no hepatosplenomegaly

> 

> ·      Response to therapies:

> 

> §  No response to G-CSF and IVIG.

> 

> §  Patient was treated with high-dose systemic corticosteroids during the episode of November 2012 and the father noticed that there was good response (the episode lasted shorter).

> 

> ·      Complications during the episodes:

> 

> §  'Bacterial' pneumonia (no microorganisms were isolates) during the episode of April 2006, complicated with pleural effusion and residual bronchiectasis.

> 

> §  Pneumonia, positive blood culture to Pseudomona aeruginosa.

> 

> 

> 

> -       Between episodes the patient has not had any severe or opportunistic infection.

> 

> -       Bronchiectasis from 2 yrs 6 months of age, persistent production of sputum.

> 

> -       Growth and mental retardation that was noticed at the first episode of pancytopenia (11 months of age). Example: she walked at 4 years of age. Current neurological and physical development appears as from a 6-yr-old child.

> 

> -       Microcephaly.

> 

> -       Apparently normal facies.

> 

>  

> 

> WORK UP:

> 

>  

> 

> CBC counts at birth and during the 1st episode

> 

>  

> 

> 13-3-2004

> 

> 12-2-2005

> 

> 14-2-2005

> 

> 16-2-2005

> 

> 18-2-2005

> 

> 20-2-2005

> 

>  

> 

> 2 days of age

> 

> 1st episode of thrombocytopenia, neutropenia and anemia

> 

> Platelets (per μL)

> 

> 200,000

> 

> 68,200

> 

> 60,500

> 

> 117,000

> 

> 275,000

> 

> 412,000

> 

> Hemoglobin

> 

> 17.1

> 

> 6.8

> 

> 11.9

> 

> 12

> 

> 12.9

> 

> 13.7

> 

> WBC

> 

> 9,800

> 

> 4,900

> 

> 8,340

> 

> 6,350

> 

> 11,700

> 

> 10,400

> 

> Neutrophils

> 

> 45%

> 

> 2%

> 

> 5%

> 

> 10%

> 

> 27%

> 

> 8%

> 

> Banded

> 

> 1%

> 

> 0%

> 

> 1%

> 

> 3%

> 

> 8%

> 

> 2%

> 

> Lymphs

> 

> 44%

> 

> 94%

> 

> 85%

> 

> 68%

> 

> 50%

> 

> 77%

> 

> Eosinophils

> 

> 1%

> 

> 4%

> 

> 4%

> 

> 0%

> 

> 2%

> 

> 1%

> 

> Basophils

> 

> 1%

> 

> 0%

> 

> 0%

> 

> 0%

> 

> 0%

> 

> 0%

> 

> Monocytes

> 

> 8%

> 

> 0%

> 

> 5%

> 

> 18%

> 

> 12%

> 

> 12%

> 

>  

> 

> CBC counts during the 2nd and 3rd episodes

> 

>  

> 

> 14-9-2005

> 

> 15-9-2005

> 

> 06-4-2006

> 

> 10-4-2006

> 

> 22-4-2006

> 

> 29-4-2006

> 

>  

> 

> 2nd episode

> 

> 3rd episode

> 

> Platelets (per μL)

> 

> 18,600

> 

> 106,000

> 

> 4,000

> 

> 15,000

> 

> 14,000

> 

> 250,000

> 

> Hemoglobin

> 

> 10.1

> 

> 9.7

> 

> 7.2

> 

> NA

> 

> 9

> 

> 11. 1

> 

> WBC

> 

> 2,540

> 

> 2,190

> 

> 1,000

> 

> 800

> 

> 4,500

> 

> 19,200

> 

> Neutrophils

> 

> 3%

> 

> 1%

> 

> 0%

> 

> 0%

> 

> 29%

> 

> 46%

> 

> Banded

> 

> 0%

> 

> 0%

> 

> 0%

> 

> 0%

> 

> 12%

> 

> 16%

> 

> Lymphs

> 

> 87%

> 

> 95%

> 

> 96%

> 

> 49%

> 

> 46%

> 

> 27%

> 

> Eosinophils

> 

> 0%

> 

> 4%

> 

> 3%

> 

> 0%

> 

> 1%

> 

> 0%

> 

> Basophils

> 

> 0%

> 

> 0%

> 

> 0%

> 

> 0%

> 

> 0%

> 

> 0%

> 

> Monocytes

> 

> 6%

> 

> 0%

> 

> 0%

> 

> 0%

> 

> 10%

> 

> 2%

> 

> 

> 

> Immunologic testing (during an episode):

> 

> -       July 27, 2011: IgG=1127, IgA=137, IgM=127 mg/dL, IgE=506 UI/mL

> 

> 

> 

> Immunologic testing (between episodes):

> 

> -       May 31, 2006: IgG=2052, IgA=119, IgM=162 mg/dL, IgE=62 UI/mL

> 

> -       September 19, 2007: IgG=980, IgA=68, IgM=71 mg/dL, IgE=62 UI/mL

> 

> -       May 31, 2006: CD3+ cells=14,028 (68% HLA-DR +); CD4+ T cells=2,304; CD8+ T cells=10,688; CD19+ cells=450.

> 

> -       August 28, 2007: WBC=6,300; lymphs=4,095; CD3+ cells=2,079 (most HLA-DR and CD25 negative); CD4+ T cells=1,134; CD8+ T cells=882; CD19+ cells=1010; CD56+ cells= 378/mm3.

> 

> -       Negative autoantibody panel (ANA, anti-DNA, ANCA, anti-Sm, anti-RNP, anti-SS-A, anti-SS-B, anticardiolipin, lupus anticoagulant).

> 

> -       C3 and C4 complement proteins: normal levels.

> 

> 

> 

> Infectious disease testing:

> 

> -       Negative testing for acute EBV, CMV, parvovirus B19, herpes simplex, toxoplasma, Salmonella typhi and Brucella sp infection.

> 

> -       Negative testing for viral hepatitis.

> 

> -       Negative RPR.

> 

> 

> 

> Hematologic testing:

> 

> -       Reticulocyte count <1.5%.

> 

> -       Haptoglobin=344 mg/dL (normal levels: 30-200).

> 

> -       LDH=662 mg/dL (normal levels: 58-158).

> 

> -       Serum iron=318 mg/dL (normal levels: 58-158).

> 

> -       Serum transferrin=118 mg/dL (normal levels: 250-400).

> 

> 

> 

> Genetic and metabolic testing:

> 

> -       Serum glucose, urea, creatinine, transaminases, albumin and electrolyte levels: within normal limits

> 

> -       Ferritin >1,500 mg/dL

> 

> -       Normal newborn screening tests for hypothyroidism and phenylketonuria.

> 

> -       Karyotype: normal 46,XX

> 

> -       Diepoxybutane (DEB) test: no chromosomal breakages.

> 

> -       No detection of urinary abnormal metabolites.

> 

> -       Aminoacid chromatography: normal

> 

> 

> 

> Histology results:

> 

> -       Bone marrow smear (during an episode; 20/9/2005): severe bone marrow hypoplasia (lymphocytes=62%).

> 

> -       Bone marrow smear (during an episode; 22/9/2005): reduced myeloerythroid lineage.

> 

> -       Bone marrow smear (between episodes; 25/5/2006): reactive bone marrow.

> 

> -       Bone marrow biopsy (between episodes; 25/5/2006): normal findings.

> 

> 

> 

> Imaging results:

> 

> -       Brain US (23-3-2004): no abnormalities.

> 

> -       Brain CT (03-9-2004): bilateral frontoparietal cortical atrophy.

> 

> -       Brain MRI (14-9-2004): dysplastic cranium; retardation of myelination; hypoplastic or developing brain.

> 

> -       Chest CT (12-5-2006): inflammatory process in the parenchyma of the left lung base; loculated pneumothorax; consolidation in the right lung base.

> 

> -       Large bone and crania X-rays: normal.

> 

>  

> 

> DIAGNOSIS:

> 

> -       Recurrent severe pancytopenia, predominantly of the myeloerythroid lineage.

> 

> -       Physical and mental retardation with cerebral atrophy and microcephaly.

> 

> -       Bronchiectasis

> 

> ---

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