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   Abstract
   Introduction
   Case Report
   Comments
   Acknowledgement
   References

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CASE REPORT
Year : 1992  |  Volume : 58  |  Issue : 6  |  Page : 388-390

Wiskott-aldrich syndrome


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Correspondence Address:
Thomas Shaji John


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  Abstract 

An infant with Wiskott-Aldrich syndrome who presented with eczematous skin lesions, recurrent infections, and thrombocytopenia is reported. He was posted for allogenic bone marrow transplantation but died before the transplantation. Allogenic bone marrow transplantation offers excellent immunologic and haematologic reconstitution, if histocompatible sibling donor is available.


Keywords: Wiskott-Aldrich Syndrome


How to cite this article:
John TS. Wiskott-aldrich syndrome. Indian J Dermatol Venereol Leprol 1992;58:388-90

How to cite this URL:
John TS. Wiskott-aldrich syndrome. Indian J Dermatol Venereol Leprol [serial online] 1992 [cited 2014 Oct 25];58:388-90. Available from: http://www.ijdvl.com/text.asp?1992/58/6/388/3859



  Introduction Top


Wiskott-Aldrich Syndrome (WAS) is a genetically determined x-linked recessive disorder characterized by the triad of 1) recurrent infections with a variety of organisms, 2) moderate to severe chronic thrombocytopenia, and 3) eczema. The exact reason for the immunologic and platelet defect is unknown, but the absence of a 115,000 dalton glycoprotein from both platelet and lymphocyte membrane suggests that the basic problem lies in the pluripotent stem cell. [1] Apart from the classical x-linked inheritance, spontaneous cases have been described. [2] The affected males invariably used to die in childhood at an average age of 3'/ 2 years. [3] But now there is hope for these children from allogenic bone marrow transplantation.

Wiskott first described the syndrome in 1937 and more than 100 cases have been reported so far. But to the best of my knowledge no case has been reported in Indian medical literature.


  Case Report Top


A 5 month-old male infant was admitted for generalized eczematous reaction of 4 '/ 2 months duration with preferential localization of lesions on the cheeks, shin, forearm, and popliteal and cubital fossae. The mother noticed erythema of the cheeks and lateral aspects of the shin 2 weeks after birth. It spread on to the legs, forearm, and trunk within a short time. It was associated with severe itching. There was no family history of atopy or any similar illness. A diagnosis of atopic dermatitis was made and he was given antihistamines, antibiotics, and local steroids. While on treatment, the infant developed intractable cough, low grade fever and tachypnoea, with signs of respiratory distress. The child was then given antibiotics along with supportive measures. The infant improved rapidly but developed dysentery which also responded well to treatment.

Ten days later the baby was seen again for complaints of persistent cough and low grade fever. He had bilateral coarse crepitations. His liver was palpable by 4 cm below the right costal margin in the midclavicular line and the spleen was just palpable. He had generalized discrete and confluent eczematous lesions affecting the whole body with localization to the cubital and popliteal fossae.

Investigations showed haemoglobin: 10.2gms%, total leucocyte count : 9800cells/mm 3, differential leucocyte count : P60, L35, E5, and platelet count 55000 cells/mm 3. Peripheral smear was normal except for occasional atypical lymphocytes. Stool showed mucus but no red blood cell or pus cell. Patchy infiltration with hilar prominence was seen in the skiagram of chest. Serum immunoglobulin levels were: IgG-2429 mg%, IgA-145 mg%, and IgM-80 mg%.

A diagnosis of WAS was made, and after controlling the infection, the infant was referred for possible bone marrow transplantation. The patient did not survive long after this and soon expired.


  Comments Top


The diagnosis of WAS should be suspected whenever an atopic child gets repeated infections. The affected individual suffers from sepsis which may involve every organ of the body, though draining ears are considered characteristic. Hepatosplenomegaly is commonly found but lymphadenopathy is unusual. Later in the course of the disease, complications due to chronic infections arise, such as bronchiectasis and chronic keratitis. There is a 100-fold increase in malignant diseases, particularly lymphoreticular, in those who do not succumb to infection or bleeding due to thrombocytopenia. [2] Reduced platelet count is the major characteristic of the syndrome and varies from 5,000 to 100,000 cells/mm 3. Platelets show some degree of anisocytosis with a few large forms, but most are smaller than normal size. [3]

The most striking immunologic abnormality consistently found is an inability to form antibodies to carbohydrate antigens. As the disease progresses, poor responses to other antigens are also found. In the first year of life, antibody levels are normal, sometimes with high IgA and IgE levels. Subsequently most patients have a low level of 1gM with normal level of lgG and high levels of IgA and IgE. [2],[3]sub

Basic therapy includes antibiotics, pulmonary hygiene, and symptomatic treatment for the skin lesions. Platelet transfusions are helpful but all blood products should be irradiated with 3000 rads before infusion to decrease the risk of graft-versus-host diseases. [3]

Bone marrow transplantation is the treatment of choice when a normal histocompatible sibling donor is available. Complete haematologic and immunologic reconstitution has been achieved with allogenic bone marrow transplantation.[3],[4] Problems of graft-versus-host reaction have been overcome with the use of busulphan and cyclophosphamide, or diethyl-myeleran and cyclophosphamide for induction together with methotrexate prophylaxis. [2],[3]

Antenatal diagnosis by the examination of fetal blood for platelet count and platelet size has been suggested and it might in future be possible to offer therapeutic abortion. [5]


  Acknowledgement Top


The author wishes to thank Dr P Sugathan, retired professor and former Head of the Department of Dermatology, Medical College, Calicut; and Dr C K Sasidharan, Associate Professor of Paediatrics, Medical College, Calicut, for their valuable help and guidance.

 
  References Top

1.Parkman R, Romold-O'Donnell F, Kenny DM, et al. Surface protein abnormalities in the lymphocytes and platelets from patients with the Wiskott-Aldrich syndrome. Lancet 1981; 2 : 1387-9.  Back to cited text no. 1    
2.Ormerod A D. The Wiskott-Aldrich syndrome. Int J Dermatol 1985; 24 : 77-81.  Back to cited text no. 2    
3.Amman AJ, Hong R. Disorders of the T-cell system. In: Immunologic Disorders in Infants and Children (Stiehm ER, ed), 3rd edn. Philadelphia: WB Saunders, 1989; 276-80.  Back to cited text no. 3    
4.Parkman R, Rappeport JM, Geha R, et al. Complete correction of the Wiskott-Aldrich syndrome by allogenic bone marrow transplantation. New Eng J Med 1978; 298: 921-6.  Back to cited text no. 4    
5.Holmberg L, Gustavii B, Jonson A. A prenatal study of fetal platelet count and size with application to fetus at risk for Wiskott-Aldrich syndrome. J Pediatr 1983; 102: 773-6.  Back to cited text no. 5    




 

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