Posterior reversible encephalopathy syndrome in a child with autoimmune lymphoproliferative syndrome: Case report and review of literature
A 15-year-old adolescent boy presented with swelling on both sides of the neck for 2 months and fever with weight loss for 1 month. He was reported to have swellings on both sides of the neck on and off for the past 8 years. He has undergone four lymph node biopsies elsewhere which were all reported as reactive lymphadenitis. He has not received any other specific therapy so far. On physical examination, he had severe pallor, cervical lymphadenopathy, palpable liver of 4 cm, and spleen of 3 cm below the costal margin. Laboratory investigations revealed hemoglobin of 6.2 g/L, platelets of 6 × 109/L, and Erythrocyte Sedimentation Rate of 122 mm/h. Liver function tests were normal except elevated total protein of 9.4 g/dl. Serum electrolytes, renal function tests, serum uric acid, and lactate dehydrogenase were within normal limits. Peripheral smear showed microcytic, hypochromic anemia. Direct Coombs test (DCT) and antinuclear antibody (ANA) was positive. Urine microscopy did not reveal any proteinuria or hematuria. Serum complements (C3 and C4) were normal. Double-stranded DNA and anti-Smith ELISA, lupus anticoagulant, anticardiolipin antibodies were negative. Chest X-ray was normal and Mantoux was negative. HIV ELISA and other viral serology including Cytomegalovirus, Ebstein Barr Virus (EBV) and toxoplasmosis were negative. Serum immunoglobulin study revealed hypergammaglobulinemia (IgG, 3426 mg/100 ml; IgA, 353 mg/100 ml; IgM, 79 mg/100 ml; IgE, 941.3 mg/100 ml). Peripheral blood lymphocytes were analyzed by flow cytometry for DNT cells (CD3+, CD4-, and CD8-). Healthy control showed the expected < 1% DNT cells, while the patient's sample showed 19% of double negative cells consistent with the diagnosis of ALPS. Since the diagnosis is conclusive with flow cytometry, he was started with prednisolone (1 mg/kg/day) after counseling about nature of disease process and need for long-term treatment. During follow-up after 2 weeks, his lymphadenopathy, hepatosplenomegaly regressed, and cytopenias resolved completely. His blood pressure was monitored and found to be within normal limits. We did not repeat the lymph node and bone marrow biopsy since he responded very well.\nTwo months after therapy, he presented with generalized tonic–clonic seizures which were preceded by severe headache. His Glasgow coma scale score was 12/15. He was drowsy and disoriented. On central nervous system (CNV) examination, fundus was normal and pupils were bilaterally central, circular, reacting to light. Bilateral deep tendon reflexes were brisk and plantars were extensor. Rest of the systemic examination was normal.\nHis blood pressure was 180/110 mm of Hg - more than 99th centile for his age. His blood investigations including serum glucose, electrolytes, calcium, and magnesium were normal. Cerebrospinal fluid examination also was within normal limits. Magnetic Resonance Imaging of the brain showed abnormal T2-weighted and fluid attenuated inversion recovery (FLAIR) hyperintense signals seen in bilateral parieto-occipital regions along with effacement of adjacent sulci, consistent with the diagnosis of PRES [Figure and ]. He was treated with anticonvulsants and antihypertensives. He recovered completely without any neurological deficit. Currently, he is on tapering doses of oral steroids and added on mycophenolate mofetil. He is on regular follow-up for 1 year now.