B-cell and T-regulatory cell dysfunction in six Chinese children with hypogammaglobulinaemia

We report six Chinese boys with hypogammaglobulinaemia. All but one had very low or undetectable circulating B-lymphocytes, two had reversed CD4/CD8 ratios (in one of whom this later became normal), one had reduced lymphocyte proliferative responses to concanavalin A and pokeweed mitogen and three had deficient responses to OKT3. Generation of antibody-secreting cells in response to pokeweed mitogen was markedly defective in all patients. Co-cultures of purified lymphocyte subsets from the patients with those of normal donors revealed that in addition to B-cell deficiency seen in all patients, two had T-helper cell deficiency and two had T-suppressor cell hyperactivity. One of the latter patients was treated with cimetidine in an attempt to ablate histamine type 2 receptor-bearing suppressor cells: the absolute number of such cells was temporarily reduced but there was no concurrent correction of the functional hyperactivity. These studies point to the variable nature of T-regulatory cell deficiencies in hypogammaglobulinaemia.     

Ultrasound: A method for kidney size monitoring in children

Normal kidneys were studied echographically in 170 children from 0–15 years of age. The length, thickness, width, volume and largest sagittal and transverse areas were measured and plotted against the children's height and body surface to establish standard growth curves. The usefulness of this non-invasive inter-and intra-individual estimation of renal size in following the progress of kidney alteration in children was illustrated in one case of malakoplakia and one case of parenchymal scars.     

低丙种球蛋白血症伴NK细胞减少:1例原发性免疫缺陷病患儿4年随访

目的 分析1例低蛋白血症伴NK细胞减少患儿的临床和免疫学特征.方法 详细分析患儿临床资料,并结合实验室血常规检查、淋巴细胞亚群分析、中性粒细胞功能、细胞因子以及淋巴细胞增殖功能分析,来探讨其免疫学特征.结果 收住院的1例3岁男性患儿的主要临床表现是反复发作的发热、腹痛和部分性肠梗阻.免疫学检查显示低丙种球蛋白血症、B细胞和NK细胞绝对计数降低和B细胞功能受损.患儿曾出现肠系膜淋巴结肿大和盲肠肿块,影像学显示回盲部结核感染.患儿病程中曾出现巨细胞病毒和真菌感染,这两种感染对于单纯抗体缺陷的原发性免疫缺陷病并不常见.对该患儿随访4年,期间患儿出现反复发作的牙周炎并导致牙齿脱落.结论 目前该患儿尚无法明确是何种类型的原发性免疫缺陷病,根据其特异性的临床表现和免疫学特征,可能为某种以抗体缺陷为主的原发性免疫缺陷病.     

Pancreatoblastoma: response to chemotherapy.

Two cases of pancreatoblastoma in children are reported here. Only biopsies were made at laparotomy as surgical resection by duodeno-pancreatectomy was not possible. In both children a dramatic response was observed with chemotherapy: doxorubicin plus cisplatin for one, cyclophosphamide, actinomycin D, bleomycin, vinblastine sulfate, and cisplatin for the other. After completion of the chemotherapy the first patient had a local resection; then he had radiotherapy. He is alive in first remission 40 months after the end of the treatment. In the second patient, regional recurrence occurred 8 months after chemotherapy was ended. A transient second remission was obtained with ifosfamide plus etoposide alternating with epirubicin plus vincristine. The patient died 36 months after the diagnosis. Therefore, these two cases suggest that chemotherapy may be proposed before any attempt at surgical excision. Nevertheless, early consolidation by radical resection or irradiation must be considered.     

Significance of X Granules in Histiocytosis X: An Ultrastructural Study

Histiocytosis X is characterized by the presence of cytoplasmic rod structures called Langerhans' cell granules or X granules (XG). It has been speculated that histiocytosis X is a Langerhans' cell disorder. This ultrastructural study was performed to quantitate the number of XG containing histiocytes in the histiocytosis X lesions. Twenty-four specimens from 22 patients with histiocytosis X were studied: 4 from skin, 5 from lymph node, 11 from bone, 2 from lung, 1 from gingiva, and 1 from cheek. The majority of the histiocytes in histiocytosis X lesions do not contain X granules. The percentage of histiocytes with XG in a lesion has no relation to the age of the patient or the organ from which it was obtained, except for skin, where they were quite numerous. The relative percentage of histiocytes with granules does not correlate significantly with the prognosis of these patients.     

Opsoclonus myoclonus syndrome: response to plasmapheresis

An 18-month-old with idiopathic opsomyoclonus, refractory to therapy with ACTH, corticosteroids, and clonazepam received plasmapheresis along with oral corticosteroids and azathioprine. The subject improved dramatically following this treatment. Anticerebellar antibodies were detected from the plasma in this patient and in a two and a half year-old girl with cerebellar ataxia secondary to an adrenal ganglioneuroma.     

Early-onset myasthenia gravis: Clinical characteristics and response to therapy

We studied 59 children with myasthenia gravis (MG). Disease onset was pre-pubertal in 26 patients and post-pubertal in 33. The male to female ratio was 0.62 in the early- and 0.17 in the late-onset groups. The frequency of ocular MG was higher in patients with prepubertal onset. Patients with generalized MG generally showed a good response to thymectomy and corticosteroid therapy proved effective with no major side-effects. In our experience early-onset MG has the same course as in adult life. We recommend thymectomy for generalized disease in childhood, except in very young children on account of possible long-term effects on immunological development. Immunosuppressive therapy should be considered in severely affected patients who do not respond adequately to other therapies.     

Neonatal hypoxia and pulmonary vasospasm: response to tolazoline.

Forty-six neonates with hypoxemia were treated with tolazoline, a pulmonary vasodilator, within the first two days of life. Eight of ten (80%) infants without apparent lung disease responded with a mean increase in PaO2 of 116 torr within one hour of beginning tolazoline infusions. One of the responding infants and two nonresponders died. Thirty-six additional infants with a variety of pulmonary disorders had severe hypoxemia which was refractory to mechanical ventilation. Twenty-one (58%) responded with a mean increase in PaO2 of 130 torr within one hour after beginning tolazoline and 13 (62%) of these survived. Fifteen patients had little or no improvement in PaO2 following tolazoline and only three (20%) of these infants survived. Responders could not be distinguished from nonresponders by clinical or laboratory features prior to therapy with tolazoline. Fourteen infants experienced complications possibly related to tolazoline.     

Spontaneous Regression of Congenital Cutaneous Histiocytosis X: Report of a Case with Discussion of Nosology and Pathogenesis

Spontaneous regression of histiocytosis X is a rare biologic event as judged by the extensive recorded experience in the literature. We present a case of congenital cutaneous histiocytosis X that resolved without specific therapy in the first week of life. Histologic and ultrastructural studies confirmed the interpretation. This child is an example of so-called pure cutaneous histiocytosis, which, like the other unisystem forms of the disorders, has an excellent prognosis.     

Fetal ascites owing to congenital cytomegalovirus: response to ganciclovir

A term newborn with severe congenital cytomegalovirus (CMV) infection is described. Fetal ascites was detected at 28 weeks gestation, and at birth there was tense ascites. There was intra-uterine growth retardation, microcephaly, chorioretinitis, jaundice, purpura and pneumonitis. Computed tomographic scan of the brain showed ventriculomegaly with periventricular calcifications. Serology was positive for cytomegalovirus-specific immunoglobulin M, and cytomegalovirus DNA was detected in the ascitic fluid and urine by nested polymerase chain reaction. He received 6 weeks of treatment with ganciclovir. Ascites resolved spontaneously and liver function tests became normal. Although there was a good clinical response to ganciclovir therapy without any side-effects, on follow-up the infant had global developmental delay and bilateral sensorineural deafness.     

Nasal hemophilic pseudotumor: Favorable response to radiotherapy

Hemophilic pseudotumors are rare but dangerous complications of Hemophilia. We hereby report a 3-year-old boy with Hemophilia B, presenting with nasal pseudotumor, showing favorable response to radiotherapy after unsuccessful treatment with factor IX replacement therapy. The diagnosis and treatment of this rare condition is also reviewed.     

Wheezing in infants: the response to epinephrine

There is significant controversy about the role of bronchodilator therapy for wheezing in infants. A double-blind, randomized trial of subcutaneous epinephrine upsilon normal saline was conducted in children less than 24 months of age evaluated at Yale-New Haven Hospital. Respiratory assessments using a newly developed Respiratory Distress Assessment Instrument were made at baseline and 15 minutes after each of two injections. Relief of respiratory distress was assessed using strict a priori criteria based on changes in respiratory rate, wheezing, and retractions as scored in the Respiratory Distress Assessment Instrument. Significantly more children improved their respiratory status with epinephrine (nine of 16) than placebo (one of 14) (Fisher exact test, P = .0067). Paired data in individuals receiving placebo and then epinephrine confirmed this (Wilcoxon signed ranks test, P less than .01). Sixty-three percent of patients less than 12 months and 92% of those 12 to 24 months improved with epinephrine, as did seven of ten children with respiratory syncytial virus bronchiolitis. In many children, response to the initial epinephrine injection was not indicative of final response. Results of this study demonstrate the effectiveness of epinephrine in the treatment of acute wheezing in children less than 24 months of age.