MILK FAT BOLUS OBSTRUCTION IN A PRETERM INFANT

ABSTRACT. We describe a preterm infant who developed an intestinal fat bolus obstruction on the 18th day of life. Shortly before the obstruction the infant's feeding had been changed from maternal breast milk to a special formula for preterm infants. Although the fatty acid composition of the bolus resembled breast milk more than the formula, the abrupt change in the feed may have caused the formation of the bolus.     

RICKETS IN A PRETERM INFANT DURING INTRAVENOUS ALIMENTATION

ABSTRACT. A preterm baby given intravenous feeding developed severe rickets. Laboratory investigation revealed hypophosphatemia as the main cause of this picture. Recovery was achieved by giving extra phosphorus supplementation. This case demonstrates that conventional infusates do not meet the phosphorus requirement of rapidly growing infants.     

AMEBIC OSTEOMYELITIS IN A CHILD WITH ACQUIRED IMMUNODEFICIENCY SYNDROME: A Case Report

Disseminated Acanthamoeba infection has been described in immunocompromised or debilitated patients. The usual sites of involvement are skin, sinus, and brain. Sporadic reports of Acanthamoeba infection in patients infected with the human immunodeficiency virus are present in recent literature, predominantly in adults, and one case involving an 8-year-old child. We describe a case of amebic osteomyelitis, seen in a 6-year-old child with vertically acquired human immunodeficiency virus and a 6-month history of cutaneous Acanthamoeba infection.     

IDENTIFICATION OF THE Y CHROMOSOME BY THE FLUORESCENCE TECHNIQUE IN AN XY/X0 GONADAL DYSGENESIS

A phenotypic female aged 16 years had sexual hypoplasia, streak gonads and sex chromosome mosaicism. She was XY in peripheral blood cultures and XY/X0 in Fallopian tube tissue and in skin cultures. A definite identification of the XY line was made by the fluorescence technique which showed a fluorescent section corresponding to the distal segment of the long arm of one of the five achrocentrics.     

SPONTANEOUS RESOLUTION OF A SINGLE LESION OF MYELOID LEUKEMIA CUTIS IN AN INFANT: Case Report and Discussion

Though infantile leukemia has a historically poor prognosis, there may be a subset of patients with cutaneous disease whose disease will resolve without therapy. The authors report a case of infantile leukemia cutis who presented with a single subcutaneous chloroma that spontaneously resolved over the course of several weeks and who remains without evidence of disease nearly two years later. After reviewing the literature of congenital leukemia cutis, the authors conclude that withholding chemotherapy in infants with cutaneous myeloid leukemia in the absence of known negative prognostic factors (MLL or BCR-ABL translocations) or progressive disease is clinically indicated.     

DISSEMINATED BCG INFECTION RESEMBLING LANGERHANS CELL HISTIOCYTOSIS IN AN INFANT WITH SEVERE COMBINED IMMUNODEFICIENCY: A Case Report

We present a very rare congenital immunologic disease, severe combined immunodeficiency syndrome (SCID) in 6-months-old-boy with prolonged mucocutaneous candidiasis, severe anaemia, skin rash similar to the infiltrative eczema of Langerhans cell histiocytosis (LCH) and subcutaneous nodules with histiocytic infiltration. Laboratory findings show profound absence of humoral and cell-mediated immunity. Pathology specimens analysis of subcutaneous nodule revealed numerous S-100 protein and Cd1a negative histiocytes, occupied by BCG intracellular growth. Histopathology and immunohistochemistry confirmed the diagnosis of BCG dissemination. BCG vaccination in infants with SCID can lead to life threatening dissemination, resembling to the infiltrative eczema of LCH and may mislead the clinician.     

N-CPAP在早产儿RDS及新生儿呼吸衰竭中的临床应用

为探讨经鼻塞持续气道正压通气(N-CPAP)治疗早产儿呼吸窘迫综合征(RDS)及新生儿呼吸衰竭的效果,采用带有空氧混合器、加温湿化器的N-CPAP氧疗器对21例危重新生儿进行经鼻塞持续气道正压通气治疗,观察治疗前后临床症状、胸片及呼吸功能各指标的变化。结果:早产儿RDS应用N-CPAP后动脉血氧分压(PaO_2)由(42±4)升至(88±7)mmHg(P<0.01);动脉二氧化碳分压(PaCO_2)由(63.5±7.1)降至(38.2±4.9)mmHg(P<0.01);氧合指数(PaO_2/FiO_2)由(42±4)升至(420±58)mmHg(P<0.01);肺内分流量(Q_S/Q_T)由治疗初的(26.6%±3.1%)降至(5.4％±0.6%)、(1.5％±0.3％)(P<0.1)。N-CPAP治疗新生儿肺炎、先天性喉喘鸣合并呼吸衰竭及早产儿原发性呼吸暂停均有较好疗效。结果提示带空氧混合器、加温湿化器的N-CPAP治疗早产儿RDS及新生儿呼吸衰竭效果显著。是基层医院新生儿科的一种简便易行、无创安全、经济且疗效显著呼吸支持设备。     

INFANT ANAPLASTIC LYMPHOMA: Case Report and Review of the Literature

Anaplastic large cell lymphoma (ALCL) is a well-known entity, but there are no data on prognosis according to the age of the patient, especially in infants. A 2-month-old girl was admitted with a 2-week history of coughing, fever, and lymphadenopathy. Physical examination revealed mild respiratory distress, an erythematous macular rash on her trunk, massive cervical lymphadenopathy, splenomegaly, and very mild ascites. Chest radiograph showed bilateral pulmonary infiltrates, pleural effusion, and a mediastinal mass. CBC count showed WBC: 172,000/μL (PMN 40%, lymphocytes 47%, monocytes 3%); hemoglobin concentration: 8.7 g/dL; platelets: 390,000/μL. Cervical lymph node biopsy revealed anaplastic lymphoma with positive staining to ALK 1 and TIA 1. Immunophenotypic analysis of peripheral and bone marrow lymphoid cells showed an aberrant T-cell immunophenotype, including expression of CD3, CD45R0⁺, CD43⁺, and CD30⁺. Cytogenetic analysis performed on blood and bone marrow samples demontrated the translocation t(2;5) (p23;q35), and trisomy 47. After leucophoresis, the child received chemotherapy according to the ALCL-99-EICNHL protocol, and was started on corticosteroids and cyclophosphamide, which resulted in marked improvement. After the second course, WBC decreased to 6000/μL without tumor lysis syndrome, but the child developed bacterial and fungal disseminated infections and died of septic shock with multiorgan failure. This report is of a rare case of infant anaplastic lymphoma and excellent response to treatment. Unfortunately, she did succomb to overwhelming infection. More reports of similar cases may determine the cause and prognosis of such children, helping to tailor therapy according to the age of the child and other prognostic factors, especially bone marrow involvement.     

A molecular classification of congenital neutropenia syndromes

Current knowledge on the molecular pathogenesis of severe congenital neutropenia indicates that the clinical diagnosis includes a heterogeneous group of disorders following different patterns of inheritance. Similarly, multifaceted syndromes associated with neutropenia can be classified molecularly, which in turn allows for a better understanding of the basis of the neutropenia. Many of the neutropenia disorders can be treated with G-CSF (filgrastim) to increase the neutrophil count, thereby reducing infection morbidity and mortality. In some instances hematopoietic stem cell transplantation remains the only curative treatment currently available. This review describes and classifies, on a molecular basis, both primary congenital neutropenia and multifaceted syndromes associated with neutropenia.     

MUCOSAL CALCIFIED NODULE OF THE HARD PALATE IN AN INFANT: Case Report and Review of the Literature

Pathological calcifications of skin manifest as small or large deposits of calcium in the dermis and subcutaneous tissues. One form of these conditions is described as subepidermal calcified nodule seen on the facial skin of young children without any underlying connective tissue disease or any abnormality in calcium or phosphorus metabolism. The oral cavity is rarely affected. Recently, two cases were reported in the oral mucosa and the term "mucosal calcified nodule" was coined for such an entity. We report another case of such a process involving the oral mucosa of a 5-month-old infant who presented with an enlarging lesion at the junction of the hard and soft palate.     

Renal Tubular Dysgenesis in an Hydropic Fetus with Trisomy 21: a Case Report with Literature Review

Renal tubular dysgenesis (RTD) is a rare form of noncystic renal disease characterized by paucity or absence of proximal renal tubules. Always lethal in the perinatal period, it has been associated with Potter sequence and with other congenital malformations. An autosomal recessive inheritance has been suggested. We present a case of renal tubular dysgenesis associated with fetal hydrops and trisomy 21, with a review of relevant literature.     

Nijmegen Breakage Syndrome-associated T-cell-rich B-cell Lymphoma: Case Report

In 1981 Weemaes et al. first described the Nijmegen breakage syndrome (NBS), a rare autosomal recessive disorder characterized by stunted growth, microcephaly, immunodeficiency, spontaneous chromosome instability, and a peculiar predisposition to cancer development. Most NBS-related malignancies are lymphomas, but their pathologic features have rarely been specified. We report here the case of a northern Italian 8-year-old child who, 2 years after the diagnosis of NBS, developed a diffuse large B-cell lymphoma (T cell–rich B-cell lymphoma variant). The histological and immunobiological features of the lymphoma population are analyzed and discussed in detail. Received March 29, 1999; accepted June 18, 1999.     

POLYCYTHEMIA VERA IN A 12-YEAR-OLD GIRL: A Case Report

A case of a 12-year-old girl presenting with headache and splenomegaly and fulfilling the diagnostic criteria of polycythemia vera is reported. Her peripheral blood values were as follows: hemoglobin 18 g/dL, red blood cells 7,000,000/mm 3 , white blood cells 22,000/mm 3 , and platelets 1,248,000/mm 3 . Phlebotomy was performed initially but was ineffective. Afterward 100 mg/kg per day aspirin and 30/mg/kg per day hydroxyurea were given. The patient has been asypmtomatic for 1 year and her recent hemoglobin level is 15.5 g/dL, platelet count 922,000/mm 3 , and white blood cell 12,800/mm 3 . Polycythemia vera is an extremely uncommon disease in childhood and for this reason its treatment is not well established.     

ECTOPIC CERVICAL THYMUS IN A 12-YEAR-OLD BOY: A Case Report

Thecase of a 12-year-old boywith ectopic cervical thymus is reported. This is a rare differential diagnosis in cervical tumors in childhood. The clinical symptoms might present as complications; in rare cases malignant transformations have been reported. The diagnosis ectopic cervical thymus can be achieved only histologically. Due to possible malignant transformation, it is mandatory to excise this thymus tumor totally.     

RADIOTHERAPY IN THE MANAGEMENT OF KASABACH-MERRITT SYNDROME: A Case Report

A 21-day-old infant with hemangioma was brought to the hospital with enlargement of the hemangioma of the left thigh and purple discoloration around umbilicus. This led to the diagnosis of Kasabach-Merritt syndrome. Initial treatment with corticosteroid failed. The patient under went radiotherapy that led success fully to improvement of both hemangioma and thrombocytopenia. After 2 years of follow-up, the patient has experienced long-term complications, including atrophy and growth retardation of the irradiated leg.     

CYSTINE: A SEMI-ESSENTIAL AMINO ACID IN THE NEWBORN INFANT

ABSTRACT. Pohlandt, F. (Department of Paediatrics, Section of Neonatology, University Hospital, Ulm, Federal Republic Germany). Cystine: a semi-essential amino acid in the newborn infant. Acta Paediatr Scand 63: 801, 1974.—The enzyme activities of the transsulfuration pathway (Cystine biosynthesis) are low or not measurable in the livers of human fetuses, premature and full-term newborns. Cystine thus may be an essential amino acid in newborn infants. To test this suggestion, we studied the plasma amino acid concentrations in 20 premature and 7 full-term infants treated for prematurity and/or respiratory distress syndrome by ion exchange columnchromatography. The infants received infusions of a 5% glucose-electrolyte-solution during the first two days of life. In premature newborns the plasma cystine concentrations markedly decreased within the first 12 hours of life (median <5 μmol/l) and remained low tlfereafter. In full-term infants the plasma cystine concentrations decreased similarly. To rule out the possibility that these low plasma cystine concentrations were the result of a reduced cystine biosynthesis due to a lack of methionine, a substrate of transsulfuration pathway, we studied premature on infusion of a mixture of synthetic l -amino acids free from cystine. Despite elevated plasma methionine concentrations (median 113.4 μnol/l) the plasma cystine concentrations remained very low. Cystine, therefore, can be considered a semi-essential amino acid in the newborn infant and should be supplied to newborns receiving balanced parenteral nutrition.     

KASABACH-MERRITT SYNDROME IN A JEHOVAH'S WITNESS INFANT

Although varicella is a benign self-limiting disease in healthy children, it can be fatal when it occurs in immunocompromised hosts. Despite that immunosuppressed children are suggested to require 2 doses of vaccine to achieve seroconversion, conflicting results are reported in the literature. The aim of this study was to investigate the seroconversion status and mean antibody titers at first year after single dose and double doses of varicella vaccination in acute lymphoblastic leukemia patients. Patients with leukemia in remission for at least 1 year who were seronegative for varicella-zoster virus immunoglobulin G (IgG) were vaccinated. Titers above the cutoff level (0.65) were accepted as seroconversion. Seventeen patients were vaccinated with single dose whereas 24 patients were vaccinated with double doses. Mean prevaccination antibody titers were 0.56 ± 0.05 in patients with single dose and 0.51 ± 0.08 in patients with double doses (P > .05, Student t test). The mean antibody titers at first year were 0.61 ± 0.05 in patients with single-dose vaccination (P > .05, Wilcoxon signed-rank test) and 1.48 ± 0.04 in patients with double doses (P < .001, Wilcoxon signed-rank test). Seroconversion after single-dose vaccination was achieved in 29% of patients (n = 5/17) and in 75% of patients with double doses (n = 18/24) at first year (P = .004, chi-square test). These results suggest that seroconversion after single-dose vaccination might not persist at first year in malignancy patients. Double doses should be applied in order to provide long-term seroconversion.