Dr.Sruthi Suresh*, Dr.Suma Balan**, Dr.C.Jayakumar***
*3rd year resident, Dept. of Pediatrics, **Prof and HOD, Dept. of Rheumatology, ***Prof and HOD, Dept. of Pediatrics
Amrita Institute of Medical Sciences, Kochi
10 year old female child presented with complaints of recurrent episodes of intermittent fever and cough of since 4 years with erythematous rashes all over body which was painful and pruritic. Lesions used to heal with hyperpigmentation and nodular swellings. Child is having failure to thrive and had repeated IP care needing antibiotics .Family history of atopic dermatitis was present .HRCT done due to recurrent pneumonia showed diffuse ground glass opacities with scattered ground glass nodules bilaterally and centrilobular nodules with tree in bud appearance in left lower lobe. Bronchiectasis with bronchial wall thickening and mucus plugging were also noted. CT showed dilated common bile duct with with central and peripheral IHBRD. Differentials considered were Hyper IgE syndrome , lupus and primary immunodeficiency. She was sick looking. Vitals were stable. Grade II protein energy malnutrition. Multiple erythematous hyperpigmented plaques and nodules with central atrophic scaling noted over bilateral lower limb and sacral aspect of trunk along with post inflammatory hyper pigmentation involving her upper and lower limbs. Oral cavity examination revealed hyperpigmentation of oral mucosa and tongue appeared to be furrowed. Multiple non-tender cervical lymph nodes were palpable of size 0.5×0.5cm. PGALS (pediatric Gait Arms legs and Spine examination)and systemic inflammation examination were within normal limits
Complete blood count showed eosinophilic leucocytosis with relative neutropenia and lymphopenia (TC-3,200 ,NC-9%, LC-11%, EC-79%) with mild thrombocytosis (Platelet-4.14lac). CRP 6.5mg/dl, ESR of 51mm/Hr. SGOT/SGPT : 77/68U/L. ANA(IF) was reported as 2+ mixed pattern (Fine speckled +cytoplasmic) and complements done were normal. Serum immunoglobulin levels were done which showed elevated S.IgE level of 2500IU/ml , however other immunoglobulin levels were normal. TSH and S.Cortisol levels were normal. Screening ECHO was done which showed normal heart structure with normal function and no vegetation. Orthopantomogram was done to look for decidual teeth which was absent. In view of cough and HRCT chest showing ground glass opacities she underwent pulmonary function test and bronchoscopy which were reported to be normal. However bronchoalveolar lavage -galactomannan was found to be highly positive along with detection of Pneumocystis jirovecii. Hence started on Voriconazole and Sulfamethoxazole and Trimethoprim prophylaxis . This the child is being managed with antibiotics and non-immunological manifestations is being managed interprofessionally.
Job (HyperIgE )syndrome is a rare, primary immunodeficiency .Clinical triad of Job syndrome are atopic dermatitis, recurrent skin staphylococcal infections, and recurrent pulmonary infections. IgE levels are markedly high .Described first David et al in 1966 and then Buckley reported the association of this condition with increased IgE levels and a series of phenotypic features called HIES.The HIES is classified into 2 types.Type I is Autosomal dominant hyper-IgE syndrome (AD-HIES) have abnormalities in immune system, connective tissue, skeletal and vascular among others. In Type II: Autosomal recessive hyper-IgE syndrome (AR-HIES), manifest with high IgE, recurrent skin and lung infections, sensitivity to viral infections like molluscum contagiosum, and CNS involvement, but musculoskeletal system is spared in Job syndrome is due to a mutation in the STAT3 gene in more than two-thirds of cases (70%). More than 90 different mutations have been reported. Rest of the cases, etiology is unknown .Recent advances in medical care and close follow up and compliance of patient has helped to have an improved prognosis, including survival up to 50 years or more. Thus its important to pick up the disease early on and ensure the patient has a good quality of life. As the eyes will only see what the mind knows this should encourage upcoming paediatricians to be academically forward to gift such children with a life of less suffering.