Clinical assessment of upper airway and its complications in Hunter syndrome.

Background: Hunter syndrome (HS) is an X-linked, recessive, lysosomal storage disease caused by a deficiency of the lysosomal enzyme, iduronate sulfatase (IDS). It is characterized by multisystem accumulations of glycosaminoglycans and upper airway obstruction is one of the major causes of death. While the current disease severity classifications for HS are mainly based on the degree of neurocognitive impairment, its association with the level of upper airway obstruction has not been assessed.

Genetic Profile and Microsatellite Instability in a Case of Secondary Esophageal Squamous Cell Carcinoma 12 Years After Allogeneic Hematopoietic Stem Cell Transplantation for Aplastic Anemia.

We report on a 16-year-old Japanese boy in whom an esophageal squamous cell carcinoma (ESCC) developed 12 years after allogeneic hematopoietic stem cell transplantation was performed for aplastic anemia. A high frequency of microsatellite instability was detected in samples of ESCC. Moreover, the detection of pathogenic variants, including single nucleotide substitution of TP53 (c.

Atypical clinical features of children with central nervous system tumor: Delayed diagnosis and switch in handedness.

Herein is described the cases of three children with central nervous system (CNS) tumor, who had switch in handedness occurring before diagnostic confirmation. Although the onset, age, tumor location, and histology were heterogeneous, the diagnosis of CNS tumor was delayed in all three patients. The present experience indicates that switch in handedness should be recognized as a sign of CNS tumor in pediatric patients, and which might prevent delay in diagnosis.

[Maternal Crohn's disease-related vitamin B12 deficient megaloblastic anemia in an infant].

We report an 11-month-old breast-fed boy with feeding difficulties, lethargy, and developmental delay. Blood examination showed pancytopenia and decreased serum levels of vitamin B12. Anisocytosis and poikilocytes were detected in his peripheral blood, and increased megaloblastosis without leukemic cells was detected in his bone marrow.

Somatic mosaic mutations of IDH1 and NPM1 associated with cup-like acute myeloid leukemia in a patient with Maffucci syndrome.

Maffucci syndrome is a nonhereditary congenital disorder characterized by multiple enchondromas and with soft-tissue hemangiomas. Somatic mutations of the isocitrate dehydrogenase (IDH) gene have been detected in enchondroma and hemangioma tissue from patients with Maffucci syndrome. The rate of malignant transformation in Maffucci syndrome is high, with enchondromas transforming into chondrosarcomas and the development of secondary neoplasms, including pancreatic and hepatic adenocarcinoma, mesenchymal ovarian tumors, and brain tumors such as glioma.

Paraneoplastic Syndrome of Angiomatoid Fibrous Histiocytoma May Be Caused by EWSR1-CREB1 Fusion-induced Excessive Interleukin-6 Production.

We describe a 7-year-old girl with angiomatoid fibrous histiocytoma (AFH) presenting severe inflammatory symptoms. The cytokine/chemokine profile of serum samples before and after surgery demonstrated that interleukin (IL)-6 had decreased by the greatest percentage. The AFH cells were immunopathologically positive for IL-6 and Tyr705-phosphorylation of signal transducer and activator of transcription 3.

Effect of donor chimerism to reduce the level of glycosaminoglycans following bone marrow transplantation in a murine model of mucopolysaccharidosis type II.

Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder caused by deficient activity of the iduronate-2-sulfatase. This leads to accumulation of glycosaminoglycans (GAGs) in the lysosomes of various cells. Although it has been proposed that bone marrow transplantation (BMT) may have a beneficial effect for patients with MPS II, the requirement for donor-cell chimerism to reduce GAG levels is unknown.

Multidisciplinary therapy including proton beam radiotherapy for a Ewing sarcoma family tumor of maxillary sinus in a 4-year-old girl.

Background: Although complete resection offers the best chance for controlling head and neck Ewing sarcoma family tumors (ESFTs), it is occasionally unfeasible because of possible functional and cosmetic side effects. Planning multidisciplinary treatment for head and neck ESFT is challenging.

Methods And Results: A 4-year-old girl had left-sided excessive tearing, nasal obstruction, and exophthalmos for 4 months.

[Diagnosis of mild hemophilia A made by massive intraabdominal bleeding in a 13-year-old boy].

We report a 13-year-old boy who had massive intra-abdominal bleeding without a history of bleeding episodes or traumatic cause of bleeding. The patient underwent surgical treatment because bleeding was not controlled after treatment with tranexamic acid and transfusions including fresh-frozen plasma. Bleeding was traced to the lower left lobe of the liver.

[Recurrence of transient splenial lesions in a child with "benign convulsions with gastroenteritis"].

We report a 2-year-old girl who demonstrated "benign convulsions with gastroenteritis (CwG)" with transient splenial lesions twice during the winter. The first episode was associated with noro-virus and the second with rota-virus. During each episode, seizures occurred in clusters without clinical signs of dehydration, hypoglycemia, electrolyte derangement or cerebrospinal fluid abnormalities, and her consciousness was clear during the interictal period.

Differences in CTG triplet repeat expansion in leukemic cells and normal lymphocytes from a 14-year-old female with congenital myotonic dystrophy.

We describe a rare case of acute lymphoblastic leukemia in a 14-year-old female with congenital myotonic dystrophy manifested as mental retardation, extensive contractures of multiple joints of the lower extremities, and severe scoliosis. Because of the potential toxicity of chemotherapy and the patient's poor performance status, a modified chemotherapy regimen was administered. Analysis of the greatly expanded number of CTG repeats at the 3' untranslated region of DMPK gene showed that the number of repeats was 233 greater in leukemic cells than in normal lymphocytes; this elongation may have occurred during the cellular proliferation of leukemic clones.

Sequential analysis of cadherin expression in a 4-year-old girl with intracranial ependymoma.

Introduction: Cadherins are Ca(2+)-dependent cell-to-cell adhesion molecules that play an important role in tissue construction and morphogenesis in multicellular organisms. Cadherin involvement in tumor metastasis has recently been reported.

Case Report: We investigated the expression of E-cadherin and N-cadherin in paraffin-embedded sequential surgical specimens and autopsy specimens from a 4-year-old girl with recurrent ependymoma, subsequent to cerebrospinal fluid (CSF) dissemination.

Lymphocytic hypophysitis with central diabetes insipidus and subsequent hypopituitarism masking a suprasellar germinoma in a 13-year-old girl.

Case Report: We report a case of central diabetes insipidus, hypothyroidism, and subsequent hypopituitarism due to lymphocytic hypophysitis masking a germinoma in a 13-year-old pubertal girl. Magnetic resonance revealed an enlarged pituitary gland and a mass lesion in the pituitary stalk and inferior hypothalamus. Open cranial surgery of the anterior pituitary showed active hypophysitis with lymphocytic infiltrates but without necrosis.

[A woman complicated with immune thrombocytopenic purpura, subclinical Graves disease and peripheral neuropathy 5 years after allogeneic bone marrow transplantation].

A 21-year-old woman developed immune thrombocytopenia (ITP), subclinical Graves disease and peripheral neuropathy without typical chronic graft-versus-host disease (GVHD) 5 years following an allogeneic bone marrow transplantation from an HLA-identical sibling. She received high-dose intravenous immunoglobulin (IVIG) and prednisolone (PSL), which resulted in transient recovery of platelet numbers and muscle weakness. A combination of cyclosporine and PSL induced a durable response against not only the thrombocytopenia but also her high levels of thyroid stimulating antibody (TSAb), muscle weakness and sensory abnormality.

Hemoglobin Hammersmith [beta 42(CD1) Phe --> Ser] causing severe hemolytic anemia in a Japanese girl.

Hemoglobin Hammersmith, a rare, unstable hemoglobin variant, was diagnosed in a 9-year-old Japanese girl. She presented with the typical manifestations of this disorder, including neonatal hyperbilirubinemia, followed by progressive hepatosplenomegaly, jaundice, and bilirubinuria. Because of severe hemolytic anemia, she received transfusions of red blood cells every 3 to 4 weeks.

Rapidly progressive IgA nephropathy.

A 14-year-old boy presented with macroscopic hematuria and a rapid deterioration in renal function. Percutaneous renal biopsy demonstrated severe crescentic IgA nephropathy (IgAN) with extensive (88%) glomerular crescent formation. After started intravenous administration of high-dose pulse methylprednisolone, severe nausea and general malaise accompanied by a rapid increase in Blood Urea Nitrogen (BUN) and serum creatinine levels appeared, however, the renal function ameliorated rapidly and fully recovered by following oral administration of corticosteroid.

Successful treatment of Diamond-Blackfan anemia with metoclopramide.

Diamond-Blackfan anemia (DBA) is a congenital anemia characterized by a low reticulocyte count, the absence or severe reduction of hemoglobin-containing cells in the bone marrow, and normal megakaryocytic and granulocytic differentiation. Although the anemia may initially respond to corticosteroid therapy, many patients require lifelong red blood cell (RBC) transfusion, leading to infectious complications and iron overload. Metoclopramide has recently been used to treat DBA.

Rapidly progressive IgA nephropathy.

A 14-year-old boy presented with macroscopic hematuria and a rapid deterioration in renal function. Percutaneous renal biopsy demonstrated severe crescentic IgA nephropathy (IgAN) with extensive (88%) glomerular crescent formation. After started intravenous administration of high-dose pulse methylprednisolone, severe nausea and general malaise accompanied by a rapid increase in Blood Urea Nitrogen (BUN) and serum creatinine levels appeared, however, the renal function ameliorated rapidly and fully revovered by following oral administration of corticosteroid.

First description of somatic mosaicism in MYH9 disorders.

MYH9 disorders are characterized by giant platelets, thrombocytopenia, and Dohle body-like cytoplasmic granulocyte inclusion bodies that result from mutations in MYH9, which encodes non-muscle myosin heavy chain-A (NMMHCA). These disorders are known to be transmitted in an autosomal dominant manner, although about 20% of cases are considered to be sporadic. We report here the first case of a MYH9 disorder because of somatic mosaicism.