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Gaucher disease (GD) is a rare autosomal recessive metabolic disorder. It is characterized by a deficiency of lysosomal glucocerebrosidase, which results in the accumulation of glycosphingolipid substrates, primarily glucosylceramide, in the phagocyte system. In GD Type 1, the liver, spleen, and bone marrow are typically affected. We report the case of a 7-year-old female with GD Type 1 who presented with hepatosplenomegaly detected incidentally following a motor vehicle accident. She was found to have concomitant thrombocytopenia and Erlenmeyer flask deformities of her lower limbs. Diagnosis was made on the basis of very low leukocyte β-glucocerebrosidase activity and elevated plasma chitotriosidase. DNA mutation studies revealed both c.1226A>G and c.116_1505 deletion (exons 3-11). The patient is currently managed with biweekly intravenous imiglucerase (Cerezyme) replacement therapy. She demonstrated resolution of thrombocytopenia and hepatosplenomegaly at 2-year follow-up. Physicians must consider this rare diagnosis in children presenting with hepatosplenomegaly to prompt timely management.

A newborn female with Down syndrome initially presented to the neonatal intensive care unit with difficulty feeding, failure to thrive, and respiratory difficulty that required oxygen supplementation. She also had atrioventricular canal defect that was diagnosed prenatally. On physical examination, she had hepatosplenomegaly, as well as dysmorphic features typical of Down syndrome phenotype. Hemoglobin was 16.9, platelet count was 276 000, and white blood cells (WBC) count was 62 400 with the smear showing myelocytes, promyelocytes, and myeloblasts. WBC went as high as 80 000 with blast count as high as 44% and platelets as high as 771 000. Subsequent peripheral smear showed blasts, promyelocytes, metamyelocytes, and macrocytosis of red blood cells with normal platelets. The patient’s liver enzymes, alanine aminotransferase, aspartate aminotransferase, and alkaline phosphatase were mildly elevated. Abdominal ultrasound revealed mild hepatosplenomegaly, minimal ascites, and gallbladder wall thickening. Further investigation with genetic and molecular biologic workup confirmed trisomy 21 as a somatic mutation and revealed GATA-1 mutation. The patient was negative for JAK2 V617 mutation. On flow cytometry, blasts were positive for CD34, CD117, HLADR, CD4, CD71, and CD9. Markers for megakaryocytic differentiation, CD41 and CD61, were partially expressed. Fluorescence in situ hybridization studies were inconclusive and attempts at obtaining additional genetic markers, specifically RUNX1, were unsuccessful.

In this study, the clinical and laboratory features of children with lymphadenopathy were evaluated. Over a 3-year period, 126 patients were referred to the clinic for lymphadenopathy. Twenty-eight of cases have diseases mimicking lymphadenopathy; 98 (mean age: 86 ± 55 months) have lymphadenopathy. Localized, limited, and generalized involvement was found in 52%, 30%, and 18% of patients. The most common localization was the head and neck region. The causes of lymphadenopathy were benign diseases in 75 patients. Sixty percent were reactive lymphadenopathy, 39% were lymphadenitis. Lymphadenitis was more frequently localized and bigger than 3 cm compared with reactive adenopathy (p = .02, p = .004). Twenty-three patients have malignant diseases whose mean age was higher than others (p = .002). The enlargement of supraclavicular nodes was more likely due to malignant disease (p = .001). The risk of malignant disease was higher in patients who had generalized lymphadenopathy, lymph nodes bigger than 3 cm, hepatosplenomegaly, and high lactate dehydrogenase levels. In conclusion, this study pointed out the important clues for the differential diagnosis, which were present in the history, physical, and laboratory findings.

Hemophagocytic lymphohistiocytosis (HLH) is a severe inflammatory disorder characterized by activation and proliferation of lymphocytes and histiocytes with cytokine release and uncontrolled hemophagocytosis, especially late in the course of the disease. Clinical features include relapsing fevers, hepatosplenomegaly, cytopenias, lymphadenopathy, and coagulopathy. The diagnosis can be challenging, as the early signs and symptoms are nonspecific and no specific laboratory tests exist. This syndrome is frequently not recognized and has a significant mortality rate. Typical scenarios in which HLH should be considered include mononucleosis (fever, hepatosplenomegaly, and lymphadenopathy) in an infant or young child, aseptic meningitis associated with cytopenias, or a viral syndrome-like illness with cytopenias and lymphadenopathy or splenomegaly, for example. Our approach includes measuring a ferritin level as a screening tool early in the course of such an illness. Two cases of HLH are reviewed, illustrating the frequent complexity of these cases and potential pitfalls to making a prompt diagnosis.

A 6-year-old previously healthy girl presented with a 2-day history of extensive bruising and petechiae. She had an intermittent high-grade fever (101 F) over the previous 2 weeks but had been afebrile since the onset of hemorrhagic symptoms. She had no other constitutional symptoms. Her medical history was noncontributory. She had a positive history of cat contact and her only medication was acetaminophen for fever. She lived with her parents and 2 sisters, none of whom were ill. Physical examination revealed a playful cooperative child with extensive bruising and petechiae over arms, legs, trunk, and face. There were no mucous membrane bleeding and no retinal hemorrhages. Her left submandibular and anterior cervical nodes were mildly enlarged and nontender. She had good oral hygiene, her tympanic membranes were normal, and there was no evidence of scalp infection. She did not have pallor or hepatosplenomegaly. The remainder of the examination was essentially normal.

Increasing rates of congenital syphilis have been reported in recent years despite the availability of adequate therapy. In our perinatal-neonatal center, approximately 1.5 % of newborns have reactive serologic tests for syphilis.1Untreated or partly treated maternal syphilis can adversely affect neonatal outcome since the treponeme can cross the placenta at any time during pregnancy.2As a result of hematogenous placental transmission, neonatal manifestations are usually systemic and similar to the secondary stage of syphilis, and include hepatosplenomegaly, jaundice, neuro-syphilis, and skeletal changes. A case of early congenital syphilis in an extremely premature infant with primary skeletal involvement is presented.

Pycnodysostosis is a rare bone disease. Visceral manifestations associated with anemia and/or rickets have been reported in pycnodysostosis. Five children with typical findings of pycnodysostosis with hepatosplenomegaly, anemia with rickets, one with visceromegaly and anemia, and another with rickets alone are reported here. These findings strongly suggest that extramedullary erythropoiesis does occur in pycnodysostosis.