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Case of the Month - April 2011

A Case Report

Theunis Avenant and Nicolette du Plessis. Paediatric Infectious Diseases Unit. Kalafong Hospital and University of Pretoria

History

A six year old girl first presented to a tertiary hospital with the complaint of headache since the age of 3 years. At times this was accompanied by vomiting. In some instances it was also associated with episodes of fever. On a few occasions she was awakened by the headache at night.

The pregnancy and birth were uneventful. Her parents are unrelated and there was nothing of importance in the family history. She walked at the age of 13 months but only spoke her first words after two years of age. There were no problems at school.

Shortly after birth she developed omphalitis. This was followed by a pyogenic infection of the skin of the neck and thighs. A chronic eczematoid dermatitis developed on the scalp. Recurrent episodes of otitis media prompted placement of tympanostomy tubes at the age of two years. Chronic suppuration however remained a problem.

Frequent episodes of lower respiratory infections necessitated regular use of antibiotics. She also had a chronic purulent nasal discharge with several episodes of sinusitis.

Secondary infections after minor trauma (e.g. clipping of nails) were quite common, with abscess formation in some cases. She had constant problems with blepharitis. Surgery was needed for a hordeolum.

Clinical examination

Her growth was still normal with both the weight and height between the 50th and the 75th percentile. Her skull circumference was 48,3cm (< P3), with brachycephaly and a sagital ridge. Her blood pressure was 115/80mmHg. A broad nasal bridge was present with deep set eyes. She had long slender fingers but flattening of the first fingers and toes. On initial clinical examination there w an eczematoid rash on the scalp with secondary infection as well as multiple palpable cervical lymph glands. The skin of the left inner thigh contained multiple small abscesses.

No hepatosplenomegaly or general lymphadenopathy was present. Neurological examination was normal and there were no signs of hypothyroidism.

Ophthalmological examination showed normal visual acuity and visual fields. No congestion was present on fundoscopy but the temporal papillae were pale.

Radiology

Conventional x-rays of the skull showed markedly increased convolutional markings (Figure 1). This was also demonstrated on computed tomography. Three-dimensional computed tomography confirmed closure of all the sutures (Figure 2). Magnetic resonance imaging revealed no intracranial pathology. Both maxillary sinuses were veiled on imaging. On chest x-ray there was atelectasis of the right middle lobe (Figure 3). This resolved with treatment, but recurred a few months later.



Figure 1. X-ray of skull

Figure 2. CT of skull

Figure 3. Chest x-ray

Results of relevant laboratory investigations



Blood count

Hemoglobin 12,5 g/dl
Platelets 329 x109/L
Leukocytes 9,1 x109/L
Eosinophils 4,4%


Immunoglobulin levels

IgG 15,40 g/L (4,78-11,29), normal subclasses
IgA 1,19 g/L (0,35-1,90)
IgM 0,81 g/L (0,34-1,34)
IgE 5700 IU/L (< 224) igd 240 u />ml (< 100)


Calcium, phosphate and ALP values were normal.

Granulocyte function
Slightly decreased superoxide generation. Normal chemotaxis and killing
Lymphocyte Enumeration
Normal distribution of lymphocyte subpopulations
Lymphocyte stimulation tests
Normal

On lumbar puncture the CSF pressure was normal.

A diagnosis of Hyper-IgE syndrome with craniosynostosis was made.

The disease now known as the Hyper-Immunoglobulin E syndromes (HIES) was first described by Davis et al in 1966. It was named Job's syndrome after the biblical character who was afflicted by draining skin sores and pustules.

Question 1: Which skin infections are commonly associated with primary immunodeficiencies?

Continue to Answer 1

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