A 51 year old housewife with Good Syndrome. The management of this syndrome was discussed.

1992 - diagnosed pulmonary tuberculosis and completed antiTB apparently . Had recurrent chest infection since then and diagnosed mediastinal thymoma.

2002 - symptomatic anaemia (Hb 2.88g /dl). Diagnosed red cell hypoplasia by bone marrow examination. Given IV Immunoglobulin prior to thymoma removal. Thymoma removed on 27/8/2002. HPE: benign thymoma. Anaemia recovered fully with IV IG.

Since 2004 -recurrent admission for chest infection.

Dec 2005 - contrast enhanced computered tomography (CECT) thorax-no significant findings.

Dec 2006 - high resolution computed tomography (HRCT) thorax-minimal fibrosis & mild bronchiole dilatation in left upper and lower lobe. TB work up were negative in both 2005/2006.

Dec 2009- presented with rash for one month. She was emaciated with generally dry skin and had photodistributed maculopapular eruption and erythematous plaque on nose. She had multiple excoriations and excoriated papules as well and we saw a vesicle. We biopsied again and investigated for connective tissue disease but negative.

July 2010 - ENT clinic:

complaint of dysphagia to solid food x 6/12
Nasal regurgitation for fluid x 6/12
Hoarseness of voice x 3/12
Occasional choking
Multiple skin lesions x 1 year.

O/E: gag reflex present
Left vocal cord palsy, right vocal cord impaired motility.
pooling of saliva. Advised for ryles tube feeding but patient declined till now.

Skin biopsy: a skin vesicle show multinucleated giant cell, balloon degeneration suggestive of HSV infection and the lesion were recurrent.

We had investigated her for polymyositis and sarcoidosis. CK and calcium were normal. She was given prednisolone for a short while for the suspected sarcoidosis. Subsequently developed right eye blurring of vision. Ophthalmology impression: ?CMV retinitis.Unable to send vitreous for CMV viral load due to logistic limitations.

Given intravitreal gancyclovir repeatedly till now and IV Gancyclovir at least twice (each time 2 weeks). Initially improved slightly based on ophthalmologist opinion but subsequently deteriorated quickly. Now R eye blind, left eye vision hand movement only and is rapidly deteriorating. On monthly gancyclovir intravitreal injection.

4/8/2010 - OGDS-normal, no evidence of ulcer.

Now - recurrent and frequent incapacitating chest infection. (CT thorax previously showed pulmonary fibrosis.) Severe weight loss. Now almost skin and bone only and has been wheel chair bound for a few months due to severe wasting. Also has small hand muscle wasting bilaterally. Given monthly IV immunoglobulin-since Mar till now.

Laboratory Data

Full blood count: normal
ANA – negative
Rheumatoid factor –negative
T4/TSH: normal
C3 1.26 g/L (0.9-1.8)
C4 0.48 g/L ( 0.1-0.4)

NK cells=154
T cells= 1216
B cells= 1
CD4=251
CD8=830
CD4 256 (5/8/10) & 290(20/12/10)

IgA 0.77g/L ( normal range 0.68-3.76)
IgM < 0.20g/L ( 0.60-2.63)
Ig G 5.13 g/L (7.23-16.85)
Total IgE 0 kU/L ( < 88)

CA 125: 32.70 (normal )
CA19-9: 10.3 ( normal )

Recent nerve conduction test : mixed axonal neuropathy. Repetitive nerve stimulation was negative hence she does not have myasthenia gravis.

Good Syndrome

1. We can’t (and family also can't ) afford long term valgancyclovir. Ophthalmologist worried about long term complication of monthly intravitreal injection indefinitely. She seems doomed to become completely blind soon.
2. She is getting weaker day by day, very cachectic and emanciated.
3. Recurrent pneumonia due to aspiration each time she eats. Failed to persuade her to go for PEG tube.. she would cry and become depressed each time we bring up the issue. Oral intake seems to be a very precious thing for her.
4. Actually what is the regime of IV IG for Good syndrome…0.4g/kg/day for how many days each month? ( 1, 3 or 5 days?)
5. Are you convinced it is Good syndrome in the first place?

thymoma, immunodeficiency, good syndrome

Robert I Rudolph, M.D., FACP, Clinical Professor of Dermatology, University of Pennsylvania, Philadelphia, PA USA, on October 1, 2011

A great case! I had to look it up and after doing so, it surely seems as this lady has it. On the other hand, her cachexia and other problems could indicate an occult malignancy - or even occult HIV. Good luck to all!

Robert Fine MD, Dermatologist, Decatur, Georgia, USA on October 2, 2011

Why not use more familiar designation, e.g. Chronic granulomatous disease (CGD)