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Leukocyte-adhesion deficiency-1 is a recessively inherited disorder associated with recurrent bacterial infections, severe periodontitis, peripheral leukocytosis, and impaired wound healing. We diagnosed moderate-type leukocyte-adhesion deficiency-1 in a 7-year-old girl who developed a necrotizing ulcer after Bacillus Calmette-Guerin vaccination. The patient showed moderate expression of CD18 in neutrophils with a homozygous splice mutation with c.41_c.58+2dup20 of ITGB2 and experienced recurrent severe infections complicated with systemic lupus erythematosus. She received hematopoietic stem cell transplantation from a matched elder brother with heterozygous mutation of ITGB2, and has since remained free of infection and systemic lupus erythematosus symptoms without immunosuppression therapy.

The authors report a 2-year-old boy with acute lymphoblastic leukemia (ALL) associated with craniopharyngioma. To our knowledge, this is the first such report. Magnetic resonance imaging showed a suprasellar tumor, an apparent cystic lesion, whereas cerebral computed tomography confirmed that the tumor exhibited calcification. Without surgical intervention for the suprasellar tumor, we initiated chemotherapy for ALL. After 1 year of chemotherapy, complete remission was achieved, and partial resection and radiation therapy were performed on the suprasellar tumor. At 4 years after completing leukemia chemotherapy, the patient remains in complete ALL remission and has had no recurrence of craniopharyngioma.

RATIONALE Central nervous system (CNS) leukemia is a frequent diagnosis in pediatric acute myeloblastic leukemia (AML) and includes neural symptoms. However, CNS leukemia is rarely associated with central hypsothyroidism. PATIENT CONCERNS AND DIAGNOSES A 2-year-old female with AML with MLL rearrangement presented with CNS infiltration. Laboratory tests suggested the presence of central hypothyroidism (thyroid-stimulating hormone [TSH]: 0.48 mIU/ml, normal range 0.7-6.4 mIU/ml; serum free thyroxine [FT4]: 0.62 ng/dl, normal range 0.8-2.2 ng/dl; free triiodothyronine: 1.57 pg/ml, normal range 2.7-5.6 pg/ml). Magnetic resonance imaging detected no lesions in the hypothalamus, pituitary, or thyroid. INTERVENTIONS AND OUTCOMES Levothyroxine (2.5 mg/kg/day) was administered together with chemotherapy and intrathecal injection of methotrexate, cytarabine, and hydrocortisone into the cerebrospinal fluid. The FT4 concentration increased after levothyroxine treatment, but later decreased after relapse of CNS leukemia. The TSH concentrations remained low. After remission of CNS leukemia, the TSH and FT4 concentrations quickly recovered to their normal ranges. LESSONS We believe that the CNS leukemia directly affected TSH and thyroid hormone secretion in our patient.

Burkitt-type acute lymphoblastic leukemia (B-ALL) is thought as a variant of Burkitt lymphoma/leukemia and derived from mature B-cell lymphoblast.B-ALL was developed in a 10-year-old girl. Two characteristics were apparent in this case. First, the lymphoblastic cells were positive for CD10, CD19, CD20, and CD22, but negative for terminal deoxynucleotidyl transferase and surface immunoglobulins, indicating a B-cell immunophenotype. The detection of t(8;14)(q24;q32) with a chromosomal analysis is required for a diagnosis of B-ALL. Second, der(1)(pter → q32.1::q32.1 → q21.1::q11 → qter) was detected, in which 1q21.1 to 1q32.1 was inverted and inserted. Finally, partial tetrasomy of 1q was also present. Because B-ALL with abnormal chromosome 1 has been reported poor outcome, the usual chemotherapy for stage 4 Burkitt lymphoma with added rituximab was administered for our patient.We report B-ALL with precursor B-cell immunophenotype and interesting partial tetrasomy of 1q.

Large gastric folds in adults are seen in many benign and malignant conditions, but they are rare in children with malignant diseases such as non-Hodgkin lymphoma. The authors report a patient with non-Hodgkin lymphoma who had large gastric folds and jaundice as the initial symptoms. A 14-year-old boy was referred to the authors' hospital with upper abdominal pain and jaundice. A standard barium upper gastrointestinal series showed large gastric folds in the entire stomach. Magnetic resonance imaging showed a typical diffuse infiltrating type of pancreatic lymphoma. Because complete bilateral lower limb paralysis developed as a result of the epidural soft tissue mass, laminectomy and tumor resection were performed and a diagnosis of disseminated Burkitt lymphoma was established. After completing 6 months of chemotherapy, the patient has been disease-free without neurologic complications for 2.5 years.

13-cis-retinoic acid (13-cis-RA) treatment is used as a second-line treatment for residual or recurrent neuroblastoma. However, determining the duration of 13-cis-RA treatment for residual and recurrent neuroblastoma can be a problem because it is difficult to evaluate the effectiveness of the treatment. We performed 13-cis-RA treatment to remove residual active neuroblastoma cells in an 8-year-old boy with stage 4 neuroblastoma that developed from a left sympathetic ganglion and had been treated with chemotherapy, surgery, autologous peripheral blood stem-cell transplantation, and radiotherapy. 18F-fluorodeoxyglucose positron emission tomography (18F-FDG-PET) and iodine-123 metaiodobenzylguanidine (123I-MIBG) scintigraphy obtained immediately before 13-cis-RA treatment both showed positive findings in the area of the primary lesion. At 18 months after 13-cis-RA treatment, there was accumulation on 123I-MIBG scintigraphy but no uptake on 18F-FDG-PET, and 13-cis-RA treatment was suspended. The patient has been in complete remission for 3 years. In comparing the effectiveness of the 2 imaging modalities for monitoring the response to 13-cis-RA treatment, we considered that 18F-FDG-PET was superior to 123I-MIBG scintigraphy because 18F-FDG-PET images were not affected by the cell differentiation induced by 13-cis-RA treatment in our case. Thus, 18F-FDG-PET was useful for determining the treatment response and outcomes. We have reported a case of residual neuroblastoma treated with differentiation-inducing 13-cis-RA therapy. Different results were produced with 18F-FDG-PET and 123I-MIBG scintigraphy. The cessation of 13-cis-RA treatment was based on 18F-FDG-PET findings and there has been no relapse for 3 years.