Case Report: Symptomatic Chronic Granulomatous Disease in the Newborn

Abstract

Chronic granulomatous disease (CGD) is a primary immunodeficiency, which is diagnosed in most patients between one and three years of age. Here we report on a boy who presented at birth with extensive skin lesions and lymphadenopathy which were caused by CGD. An analysis of the literature revealed 24 patients with CGD who became symptomatic during the first six weeks of life. Although pulmonary complications and skin lesions due to infection were the leading symptoms, clinical features were extremely heterogenous. As follow-up was not well specified in most patients, the long-term prognosis of children with very early onset of CGD remains unknown.

Keywords: chronic granulomatous disease; early onset; neonate; outcome; symptoms.

Figure 1

(A, B) Papulo-pustular lesions on an erythematous base on the feet. (C) Scattered papules with central vesicles on the body in a newborn with chronic granulomatous disease.

Figure 2

(A) Noncontrast CT (80kV, 48mAs, FOV 170x130mm) with coronal reconstruction using a soft tissue kernel shows a distinct bilateral axillary lymphadenopathy (arrows) and a prominent inhomogeneous thymus. (B) Sagittal T2 STIR sequence of a whole body MRI (TE 33ms, TR 3800ms, FOV 300x300mm, matrix 256x256px) shows bulky hyperintense soft tissue masses surrounding the aortocaval and mesenteric vasculature (solid arrow). The enlarged thymus features multiple jagged-edged cystic lesions (dotted arrow).

Figure 3

(A) H+E, 4x, Lymph node with severely disturbed architecture by a diffuse necrotizing and granulomatous inflammation. (B) H+E, 4x, Lymph node, close-up of the granulomatous inflammation with abundant multinucleated giant cells (see arrows) in a background of neutrophils and eosinophils.