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A Child with Pancytopenia and Optic Disc Swelling Justin Berk, MD, MPH, MBA,A,B Deborah Hall, MD,B Inna Stroh, MD,C Caren Armstrong, MD,D Kapil Mishra, MD,C Lydia H

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A Child with Pancytopenia and Optic Disc Swelling Justin Berk, MD, MPH, MBA,A,B Deborah Hall, MD,B Inna Stroh, MD,C Caren Armstrong, MD,D Kapil Mishra, MD,C Lydia H A Child With Pancytopenia and Optic Disc Swelling Justin Berk, MD, MPH, MBA,a,b Deborah Hall, MD,b Inna Stroh, MD,c Caren Armstrong, MD,d Kapil Mishra, MD,c Lydia H. Pecker, MD,e Bonnie W. Lau, MD, PhDe A previously healthy 16-year-old adolescent boy presented with pallor, blurry abstract vision, fatigue, and dyspnea on exertion. Physical examination demonstrated hypertension and bilateral optic nerve swelling. Laboratory testing revealed pancytopenia. Pediatric hematology, ophthalmology and neurology were consulted and a life-threatening diagnosis was made. aDivision of Intermal Medicine and Pediatrics, bDepartment c d CASE HISTORY 1% monocytes, 1% metamyelocytes, of Pediatrics; and Divisions of Ophthalmology, Pediatric Neurology, and ePediatric Hematology, School of Medicine, 1% atypical lymphocytes, 1% plasma Dr Berk, Moderator, General Johns Hopkins University, Baltimore, Maryland Pediatrics cells), absolute neutrophil count (ANC) of 90/mm3, hemoglobin level of Dr Berk was the initial author and led the majority of A previously healthy 16-year-old the writing; Dr Hall contributed to the Hematology 3.7 g/dL (mean corpuscular volume: section; Drs Stroh and Mishra contributed to the adolescent boy presented to his local 119 fL; red blood cell distribution Ophthalmology section; Dr Armstrong contributed to emergency department because his width: 15%; reticulocyte: 1.5%), and the Neurology section; Drs Pecker and Lau served as mother thought he looked pale. For 2 platelet count of 29 000/mm3. The senior authors, provided guidance, and contributed weeks, the patient had experienced to the genetic discussion, as well as to the overall laboratory results raised concern for fi occasional blurred vision (specifically, paper; and all authors approved the nal bone marrow dysfunction, particularly manuscript as submitted. central blurring with difficulty looking the presence of plasma cells and Dr Berk’s current affiliation is Department of at the school whiteboard) and 2 frontal metamyelocytes, macrocytic red Pediatrics and Medicine, Warren Alpert School of morning headaches, which improved cells, and reticulocytopenia that was Medicine at Brown University, Providence, RI. with standing. The headaches did not inappropriate for the extent of anemia. DOI: https://doi.org/10.1542/peds.2018-2887 wake him from sleep. He also reported He was transferred to a tertiary center Accepted for publication Mar 12, 2019 2 weeks of mild fatigue, weight loss, for further evaluation. heart palpitations, and 3 days of Address correspondence to Bonnie W. Lau, MD, PhD, Division of Pediatric Hematology, Department of nonproductive cough. The palpitations Dr Hall, what is your differential diagnosis and next steps for this child? Pediatrics, Johns Hopkins University School of and lightheadedness worsened with Medicine, Ross Research Building, 720 Rutland Ave, exercise. He denied sick contacts. Room 1125, Baltimore, MD 21205. E-mail: blau7@ Dr Hall, Pediatric Hematology jhmi.edu Physical examination in the emergency The patient has severe pancytopenia. In PEDIATRICS (ISSN Numbers: Print, 0031-4005; Online, department demonstrated tachycardia adolescents, the differential diagnosis 1098-4275). (heart rate: 95–120 bpm), mild systolic of pancytopenia is broad. The most Copyright © 2019 by the American Academy of hypertension while sitting (120–150/ common etiology is infection. The Pediatrics 60–80 mm Hg), and a normal second most common cause is bone FINANCIAL DISCLOSURE: The authors have indicated respiratory rate (14–20 respirations marrow failure, which may be they have no financial relationships relevant to this per minute). Oxygen saturation was idiopathic, acquired, or inherited. In article to disclose. 100% on room air. He was afebrile with adolescents, the most common form of FUNDING: No external funding. conjunctival pallor and had a grade III/ bone marrow failure is aplastic anemia POTENTIAL CONFLICT OF INTEREST: The authors have VI precordial systolic ejection murmur (AA).1 Paroxysmal nocturnal hematuria indicated they have no potential conflicts of interest and bilateral optic disc edema on (PNH), a rare, acquired complement- to disclose. fundoscopic examination. Laboratory mediated disease with autoimmune results revealed pancytopenia with destruction of red blood cells, can To cite: Berk J, Hall D, Stroh I, et al. A Child With a white blood cell count of 860/mm3 present with pancytopenia. Leukemia, Pancytopenia and Optic Disc Swelling. Pediatrics. 2019;144(5):e20182887 (85% lymphocytes, 11% neutrophils, other malignancies, and exposures to Downloaded from www.aappublications.org/news by guest on September 29, 2021 PEDIATRICS Volume 144, number 5, November 2019:e20182887 DIAGNOSTIC DILEMMAS medications or environmental intracranial hypertension (IIH), with there was no evidence of other chemicals should also be considered. no known hereditary or genetic basis infiltrative malignancies, such as Autoimmune conditions, such as for IIH.4 There was no family history sarcoma or neuroblastoma. systemic lupus erythematosus, less of cancer or hemoglobinopathy. He Although intracranial hemorrhage, commonly cause pancytopenia. had not been febrile in the recent anemia-related heart failure, and Finally, caloric and nutritional months. Physical examination sepsis may have a similar deficiencies, such as copper and B , revealed no hepatosplenomegaly, 12 presentation, they were not thought can result in pancytopenia.2,3 lymphadenopathy, rashes, bruising, or to contribute to this patient’s petechiae and confirmed conjunctival The initial workup of an adolescent presentation because he did not have pallor, systolic murmur, hypertension, with pancytopenia includes focal neurologic examination findings, and bilateral optic disc swelling as laboratory results that provide edema, crackles on examination, well as diffuse intraretinal diagnostic direction and identify dyspnea at rest, hypotension, or fever. hemorrhages. potential comorbid life-threatening Ophthalmology was consulted for problems. The workup should include Further laboratory assessments blurry vision and optic disc swelling. the following: complete blood count, revealed a normal comprehensive Dr Stroh, what do you make of the reticulocyte count, peripheral blood metabolic panel and a negative urine vision changes and optic disc smear, hemolysis laboratory tests toxicology screen. Repeat laboratory swelling? (bilirubin, haptoglobin, lactate tests confirmed pancytopenia: white dehydrogenase), metabolic panel, blood cell count of 2350 mm3, ANC of Dr Stroh, Ophthalmology phosphorus, uric acid (to identify 50/mm3, hemoglobin level of 4.9 On initial ophthalmologic tumor lysis syndrome), liver enzymes g/dL (mean corpuscular volume: examination, the patient’s visual (to consider autoimmune and viral 100.7), and platelet count of 73 000/ acuity was 20/70 in the right eye and hepatitis), and bone marrow biopsy mm3 (after platelet transfusion). The 20/30 in the left eye. He had normal and aspirate. Flow cytometry of patient was hemodynamically stable ocular motility and visual fields to marrow or blood helps identify and admitted to a pediatric floor. He confrontation, and his pupils were leukemia or PNH. Infectious workup was transfused to maintain his equal, round, and reactive to light; his includes viral studies for parvovirus platelet count .20 000/mm3 and cornea, anterior chamber, iris, and B19; HIV; viral hepatitis A, B, and C; hemoglobin level .7.0 g/dL. The crystalline lens were normal. Fundus Epstein-Barr virus; cytomegalovirus; increase in total white blood cell examination of each eye revealed human herpesvirus 6; and varicella count was likely secondary to an severe optic nerve swelling, dilated zoster virus. inflammatory response to a platelet and tortuous veins, diffuse transfusion, during which the patient This patient had pancytopenia with intraretinal hemorrhages, macular had a fever. macrocytic red cells. The differential edema, and star-shaped perifoveal for pancytopenia with macrocytosis Viral studies (listed above) were exudates bilaterally (Fig 1). Optical includes nutritional deficiency, liver negative. The peripheral blood flow coherence tomography (OCT) of the disease, myelodysplastic syndrome, cytometry result was negative for macula (Fig 2) and optic nerves or bone marrow failure. fi fi a PNH clone or a leukemic clone. con rmed signi cant edema. Dr Berk, General Pediatrics Hemoglobin electrophoresis revealed Bilateral optic disc swelling may be elevated hemoglobin F (9%), which is caused by increased intracranial Additional history was obtained, and often present in patients with bone pressure (ICP), infectious or a comprehensive physical marrow failure. inflammatory causes, and toxic or examination was performed. The nutritional insults. Specific causes patient lived in Senegal from age 1 to A bone marrow biopsy and aspirate include bilateral vein occlusions and 11 years and had no foreign travel in were performed. The patient’s bone malignant hypertensive retinopathy.3 the past 5 years. The patient had no marrow biopsy specimen was Optic neuritis, compressive optic known toxic exposures and denied “severely hypocellular” (,5% neuropathy, and anterior ischemic alcohol, tobacco, or other drug use. He cellularity) without excess reticulin optic neuropathy are usually had never received blood products. fibrosis, and “the cellularity [was] unilateral but occasionally present Family history was significant for primarily comprised of erythroid with bilateral involvement. a maternal aunt and grandmother
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