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Hepatosplenomegaly, pancytopenia, coagulopathy: Big words about a feverish infant

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Your patient is a 2-month-old boy of Native American and Puerto Rican descent undergoing evaluation of fever, hepatomegaly, and pancytopenia of uncertain cause.

You meet your new patient late one afternoon on the general pediatric service of your tertiary care hospital. He is a 2-month-old boy of Native American and Puerto Rican descent who has been undergoing evaluation of fever, hepatomegaly, and pancytopenia of uncertain cause.

You familiarize yourself with what has become a rocky infancy for this baby. He was in generally good health until two weeks ago when, you learn, he developed a rotavirus infection. The diarrhea was improving, but had not resolved, when, one week before admission, he developed a fever as high as 104° F and had a generalized tonic-clonic seizure. He was transported to a nearby community hospital and found to be anemic (hematocrit, 20%). There, he was given a transfusion of packed red blood cells. Multiple cultures (blood, urine, and CSF) were obtained and were ultimately negative. Empiric antibiotics were started for possible sepsis.

Over the next five days, the boy developed pancytopenia, ascites, hepatomegaly, direct hyperbilirubinemia, and coagulopathy, requiring transfusions of platelets, fresh frozen plasma, vitamin K, and additional packed RBCs. Bone marrow aspiration and biopsy showed normal cellularity, trilineage hematopoiesis, and no abnormal cells.

Infectious disease, gastroenterology, and immunology specialists were consulted. Today, after three days in the PICU, the patient's transfusion-dependence had apparently resolved, he was no longer febrile and, after narrowing antibiotic coverage to cefotaxime, he was transferred to your care.

Arriving jaundiced and swollen

The brief history is significant for two infections. The infant was hospitalized at 11 days of age for respiratory syncytial virus bronchiolitis, which resolved without apparent complication. He then developed rotavirus infection. Neither is unusual, you consider, for a newborn in a late winter month.

The boy is the product of a full-term pregnancy; the mother is 29 years old, gravida 3, para 3. She confides that she is a recovering heroin addict who used heroin through the first trimester of this pregnancy. She received prenatal care, and routine prenatal testing was negative, including an HIV antibody test. The baby received hepatitis B vaccination at birth but has not yet received the 2-month-old vaccination. Medications include ranitidine (Zantac), which he has taken since he was 1 month old for gastroesophageal reflux disease.

The family history is significant for epilepsy in his mother and paternal grandfather. He has a 2-year-old brother and an 8-year-old half-sister, both in good health. He lives with his mother in a group home for previously incarcerated mothers who are recovering from heroin addiction.

On physical examination, you observe a baby who is alert and does not appear toxic but is diffusely jaundiced. He is now afebrile, with a pulse of 130/min and a respiratory rate of 48/min. Blood pressure is 102/57 mm Hg; O2 saturation, 98% on room air. Weight is 4.8 kg (at the 25th percentile, weight-for-age).

Physical examination is notable in several regards. Sclerae are icteric. The neck is supple without lymphadenopathy. Abdominal examination is remarkable for prominent distension, with a positive fluid wave and a liver palpable 4 cm below the right costal margin. There is splenomegaly, which had not been noted earlier; the spleen is palpable 3 cm below the costal margin. Extremities are well perfused, with a capillary refill of less than two seconds. There is a right femoral line in place, without erythema of surrounding skin. There is nonpitting trace edema of the lower extremities and marked scrotal edema. The rest of the examination is unremarkable.

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