Anesthetic management in a child with Job's syndrome.

Job's syndrome also known as hyper-IgE syndrome is a rare disorder associated with immunodeficiency. It includes recurrent abscesses of staphylococcal origin affecting skin and musculoskeletal system, recurring pneumonia and pneumatoceles, eosinophilia, craniofacial, and bone growth changes. This case report describes the disease and anesthetic management. Ten-year-old male child weighing 18 kg was diagnosed recently as Job's syndrome and was posted for abscess drainage over chest, back, upper, and lower limb. He had associated severe mental retardation. The choice of anesthetic technique was based on multiple surgical sites and associated mental retardation. Due to associated mental retardation child was sedated under our vigilance with syrup midazolam 9 mg orally and EMLA cream applied with occlusive dressing 30 min prior to shifting to OT. Upon arrival to the OT, pulse oximetry, noninvasive blood pressure, Electrocardiogram, temperature probe, cardioscope were attached. Inhalation induction done with sevoflurane and IV line secured with 22G cannula. Glycopyrolate 0.1 mg + fentanyl 30 mcg + Propofol 30 mg given intravenously. General anesthesia was maintained with bag and mask ventilation with oxygen + nitrous oxide + sevoflurane with spontaneous ventilation. Postoperative period was uneventful. This case is presented in view of rarity of its occurrence and frequency of repeated surgical intervention and anesthesia. Associated mental retardation in this case could be an isolated incident or could be an occurrence related to underlying disease process itself.

INTRODUCTION

Job's syndrome is a rare primary immunological disorder characterized by increased levels of IgE and by neutrophil or monocyte chemotactic deficits. First described by Davis et al.[1] in 1966 in two girls with red hair who had chronic dermatitis, recurrent staphylococcal abscesses and pneumonia. It is named after a biblical character Job, whose body was covered with pustules. It is caused by mutation in the STAT3 (signal transducer and activating factor of transcription 3) gene on chromosome 17q21.[2] Since 1972, a little over 250 cases of jobs syndrome have been described in literature.[34] We report a case of job's syndrome for recurrent abscess drainage and its anesthetic management.

CASE REPORT

Ten-year-old male child weighing 18 kg, recently diagnosed as Job's syndrome with severe mental retardation presented for recurrent abscess drainage. Physical examination revealed pallor++. Airway examination showed mouth opening of two finger breadths, high arched palate, crowding of teeth with presence of primary and secondary dentition, prognathism+. Head to toe examination revealed coarse facies, microcephaly, slanting and widely separated eyes, depressed nasal bridge, with multiple abscesses over chest, back, upper, and lower limbs, Scoliosis+. Respiratory and cardiovascular system were within normal limits. There was global developmental delay. Past history revealed multiple skin lesions since one year which were medically treated. Birth history and family history were uneventful. Investigations revealed microcytic hypochromic anemia (Hb 6 gm), leukocytosis. Chest x-ray and electrocardiogram, liver function test, renal function test were with in normal limits.

I/W consent of parents was obtained. Due to associated mental retardation child was sedated under vigilance with oral syrup midazolam 9 mg (oral dose is 0.5-0.75 mg/kg)[5] and EMLA cream applied with occlusive dressing 30 min prior to shifting to OT. Upon arrival to the OT, pulse oximetry, noninvasive blood pressure, electrocardiogram, temperature probe, cardioscope were attached. Difficult airway cart was kept ready before induction in view of dental and oral manifestations. Inhalation induction done with sevoflurane and IV line secured with 22G cannula. Glycopyrolate 0.1 mg + fentanyl 30 mcg + propofol 30 mg given intravenously. General anesthesia was maintained with bag and mask ventilation with oxygen + nitrous oxide + sevoflurane with spontaneous ventilation. Ringer lactate weighing 230 mL was infused intraoperatively. Temperature was maintained with the help of warming blankets. Patient was shifted to PACU and monitored with ECG, NIBP, and Pulse oximetry. Intravenous fluids maintained at a rate of 56 mL/h. Paracetamol suppository 400 mg was used for postoperative analgesia. Postoperative period was uneventful.

DISCUSSION

Jobs syndrome or hyperimmunoglobulinemia E syndrome is a multisystem disorder involving dermatological, pulmonary, musculoskeletal, cranial, and vascular system associated with immunological aberrations.[6] Dermatological manifestations include recurrent cold staphylococcal abscesses, eczematous rash, and mucocutaneous candidiasis. Pulmonary involvement includes bronchitis, pneumonia, pneumatocele, and empyema. Recurrent abscess and pneumonia present with very minimal symptoms with good response to antimicrobial therapy but can evolve into pneumatocele and bronchiectasis. In addition sialitis, gingivitis, tooth abscess, lymphadenitis, urinary tract infections, keratoconjunctivitis have been reported. Skeletal anomalies include scoliosis osteopenia, articular hyper extensibility degenerative joint disease and pathological facture, discrepancy in limb length. The facial features associated with jobs syndrome are coarse facies, prominent forehead and supraorbital ridge with wide base of the nose.[7] Primary and secondary dentition could coexist with changes in oral mucosa, high arched palate, and central tongue depression.[89] Cranial involvement[2] include craniosynostosis and chiari I malformation. The other associated features include aneurysms, vasculitis increased risk of lymphomas.[1011]

Job syndrome has two forms, the dominant one is caused by mutation in STAT3 gene on chromosome 17q21; and a recessive form, which lack skeletal and dental involvement; tend to have viral infection and molluscum contagiosum with less incidence of pulmonary infections and pneumatoceles.[12] STAT3 is main signal transduction protein and regulator of several immunologic pathways. Myeloid specific deletions in animal and experimental studies have shown hyperexpression of TNF and gamma interferon, under expression of IL-6 and IL-10 with excessive production of proinflammatory cytokines and generation of osteoclast.[1314] A group of lymphocytes show abnormal function such as failed chemotaxis with abnormal synthesis of antibodies and cytokines but with the normal phagocytic function. There is excessive production of IgE while IgG, IgA, IgM show a qualitative dysfunction.

Diagnosis is based on signs and symptoms, with elevated IgE levels usually above 2000 IU/mL. IgE levels may reduce in adult life and do not show any correlation with eosinophilia that is seen in job's syndrome. Treatment requires multidisciplinary approach.[2] Cutaneous abscesses need early surgical drainage with IV antibiotics. Other procedures for which patients commonly present are diagnostic or therapeutic bronchoscopies, drainage of empyema, lung resections. Patients may also present for scoliosis correction surgery or bone lengthening procedures, recurrence of infections in some patients can be reduced with IV immunoglobulins.[15] Anesthesia technique should be chosen judiciously based on the surgery, immunological compromise and risk benefit analysis. Ketamine can be an alternative drug for both preoperative sedation, analgesia and as an induction agent. Since this patient had severe anemia and mental retardation, we chose Propofol as an induction agent. Ketamine was avoided in view of the possibility of emergence delirium in a mentally retarded child.

This patient presented with multiple abscesses located over the chest wall, infrascapular region, upper and lower limb and gluteal region. While performing general anesthesia anesthesiologist should be aware of the dental and oral manifestations which can pose difficulty in airway management. Scoliosis and joint hyper extensibility could pose problems for positioning. The presence of lung infections, pneumatocele, fungal infections and hemoptysis should be kept in mind. This child displayed skeletal, cutaneous and oral cavity features without any signs and symptoms of chest infection. This facilitated our choice of general anesthesia with spontaneous ventilation. There are reported cases of job syndrome being managed under spinal or epidural anesthesia.[16] The presence of skin infections and aberrant immune response could increase the chance of neuraxial infection with spinal or epidural anesthesia even under strict asepsis with antimicrobial prophylaxis. The epidural sepsis may not produce symptoms of inflammation and delay diagnosis.

This case is presented in view of rarity of its occurrence and frequency of repeated surgical intervention and anesthetic exposure. Associated mental retardation in this case could be an isolated incident or could be an occurrence related to underlying disease process itself.