Shigeko Kuwashima

Role of infection in the development of acquired subglottic stenosis in neonates with prolonged intubation

Abstract Objective: To examine whether clinically diagnosed infection correlates with subsequent development of subglottic stenosis in intubated neonates.

Uncommon multisystemic involvement in a case of Henoch‐Schönlein purpura

Abstract A case of Henoch‐Schönlein purpura (HSP) characterized by several unusual complications is reported. A 10‐year‐old boy was hospitalized with acute abdomen and developed purpura on the lower extremities after 4 days of hospitalization. He had protein‐losing enteropathy, diagnosed by an elevated fecal α‐1‐antitrypsin clearance. The colicky abdominal pain and protein‐losing enteropathy subsided after methylprednisolone pulse therapy was administered. He had left hydronephrosis and gall‐bladder abnormalities detected by ultrasonography, and purpura nephritis. However, after improvement of these abnormalities, he showed steroid‐induced epidural lipomatosis, detected by magnetic resonance imaging, which resolved with steroid reduction. Ultrasonography and magnetic resonance imaging were useful for detecting these uncommon multisystemic involvements in HSP.

Craniotubular dysplasia with severe postnatal growth retardation, mental retardation, ectodermal dysplasia, and loose skin: Lenz-Majewski-Like syndrome

The heterogeneous group of craniotubular dysplasias is characterized by modeling errors of the craniofacial and tubular bones. Some conditions in this category cause not only skeletal abnormalities but also a variety of mesoectodermal dysplasias, as exemplified in Lenz-Majewski syndrome (MIM 151050), which comprises craniodiaphyseal dysplasia, failure to thrive, mental retardation, proximal symphalangism, enamel hypoplasia, and loose skin. We report on a boy with a hitherto unknown multisystem disorder, including skeletal changes that were regarded as a form of craniotubular dysplasia. The patient had a large head, exophthalmos, a broad nasal root, anteverted nostrils, large auricles, thick lips, micrognathia, severe postnatal growth retardation with emaciation, severe mental retardation, sparse hair growth, enamel hypoplasia, and thin, loose skin with hyperlaxity. Skeletal changes consisted of thickened calvaria, sclerosis of the skull base and facial bones, thick ribs, and metaphyseal undermodeling of the tubular bones. In addition, generalized osteopenia was evident. The present disorder overlaps phenotypically with Lenz-Majewski syndrome; nevertheless, the absence of diaphyseal hyperostosis and proximal symphalangism in the present patient was not consistent with Lenz-Majewski syndrome.

Fetal polycystic kidney disease in oro-facio-digital syndrome type I

Abstract We report a girl with oro-facio-digital syndrome type I (OFD I) associated with polycystic kidney disease (PKD), which was identified on fetal US and fetal MRI. After birth, the diagnosis of this X-linked dominant disorder, which is lethal in males, was achieved by recognition of facial dysmorphism, lingual hamartomas, postaxial polydactyly, brain malformations, and the existence of her deceased male sibling with similar malformations. Adult PKD is a common feature in heterozygous females with OFD I. However, fetal PKD has been reported only in a lethal homozygous male. Our observation expands our knowledge about the phenotypic variations of PKD in OFD I.

JAK2V617F mutation-positive childhood essential thrombocythemia associated with cerebral venous sinus thrombosis.

Myeloproliferative diseases (MPDs) in childhood are quite rare. Although pediatric and adult MPDs exhibit similar hematologic findings, JAK2V617F mutations and clonality status of MPDs in the DNA of neutrophils are evaluated less frequently in children than in adults. Increased incidence of venous thrombosis at uncommon sites is associated with JAK2V617F mutation in MPDs and thrombotic complications are more common in essential thrombocythemia (ET). Here, we describe 6-year-old girl with clonal myelopoiesis and JAK2V617F-positive ET associated with cerebral venous sinus thrombosis. To our knowledge, this is the first report of pediatric monoclonal and JAK2V617F-positive ET with cerebral venous sinus thrombosis.

Callosal agenesis followed postnatally after prenatal diagnosis

ABSTRACT  Callosal agenesis is a congenital brain anomaly caused by embryonal hypogenesis of the corpus callosum. Concerning the neurological prognosis, epilepsy and motor disturbance are noted in some cases, while many cases are asymptomatic and the prognosis is good. We report a fetus tentatively diagnosed with hydrocephaly on prenatal echo‐encephalography, which was performed without adequate explanation to and understanding of the parents. The parents had not expected an abnormality before the screening, and were subsequently not psychologically prepared for the discovery of the congenital brain anomaly on imaging. Moreover, they received no guidance on how to deal with any possible abnormalities. The pregnant mother was referred to our hospital. Prenatal MRI was performed after informed consent was obtained, and the fetus was diagnosed with callosal agenesis. The patient was followed for 5 years, and neurological development was normal. However, the parents have remained anxious while raising the child. Thus, the prenatal diagnosis of callosal agenesis in this case caused unnecessary mental burden to the parents. Here, we report the course of the case, and discuss the way prenatal ultrasonography should be used as a prenatal screening method, and the importance of counseling before the test.

Esophageal duplication cyst complicated by Mycobacterium avium complex infection.

Mycobacterium avium complex (MAC) infection is very rare in immunocompetent children, therefore the correct diagnosis and appropriate treatment are often delayed. 1 Esophageal duplication cyst is also a rare congenital foregut anomaly. Making a definitive diagnosis is difficult preoperatively, although various imaging techniques can help to localize these lesions and exclude other causes. 2 Here we present a patient who had an esophageal duplication cyst with MAC infection, including findings of chest radiography, computed tomography (CT), and magnetic resonance imaging (MRI).

A young infant with Goldbloom syndrome

The patient was a Japanese girl who was the second child of unrelated, healthy parents. Hydrocephalus was disclosed on fetal ultrasonography at 33 weeks gestation, which prompted the obstetrician to perform a cesarean section at 34 weeks gestation. Birth weight was 2418 g, height 45 cm and head circumference 35.6 cm. Apgar scores were 8 and 10 at 1 and 5 min, respectively. She underwent ventriculo-peritoneal shunt for congenital aqueduct stenosis at 10 days of age. Tonicclonic convulsion commenced at 3 months of age, but it was well controlled by anti-convulsant medication. At 4 months of age, she was brought to our medical service with a 3 day history of febrile illness and painful swelling of the left knee joint. Physical examination revealed swelling, tenderness and warmth of the thigh without alteration of the overlying skin. Joint fluid in the knee was not overt. Laboratory examination disclosed an increased erythrocyte sedimentation rate (ESR, 45 mm/h), increased C-reactive protein (CRP, 2.6 mg/dL) and increased white blood cell count (WBC, 20 000/mm3). Other laboratory data including Ca, P, alkaline phosphatase and tests for syphilis and tuberculosis were normal. Blood culture was Pediatrics International (1999) 41, 110–112

Magnetic resonance imaging of clival marow in patients with anorexia nervosa

Hematological abnormalities, commonly associated with anorexia nervosa (AN) patients, are thought to be the results of serous atrophy in the bone marrow. Magnetic resonance imaging (MRI) has been utilized to ascertain T1 and T2 prolongation of marrow intensity in the lumbar spine, pelvis and proximal femora. The results correlate well with the severity of hematological abnormalities and body mass index. More importantly, the propensity for peripheral marrow involvement of T2 prolongation contrasts with the axial involvement in other marrow disorders. MRI undertaken in patients with AN to exclude hypothalamic tumor showed that the clival marrow was equivalent to the peripheral marrow. The signal pattern of clival marrow on sagittal T1 weighted MR images was evaluated in four teenage female patients with AN complicated by hematological abnormalities. Although the clival marrow intensity should be uniformly high in teenagers, three patients, two with pancytopenia and one with leukopenia and anemia, exhibited homogenous low intensity. One patient who had leukopenia only and the highest body mass index, showed inhomogeneous low intensity. The signal changes returned to normal in all patients but one, who died before examination after 6–11 months, at which time the others had almost recovered their original weight and normal hemogram. T1 prolongation in the clival marrow represents bone marrow dysfunction and the inhomogeneity of the signal change may imply relative preservation of hematopoiesis and body fat composition. Lack of knowledge of this phenomenon may lead to diagnostic confusion with other marrow disorders on cranial MRI.

Usefulness of 18F-Fluorodeoxyglucose Positron Emission Tomography for Follow-Up of 13-cis-Retinoic Acid Treatment for Residual Neuroblastoma After Myeloablative Chemotherapy.

Abstract 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.