T3 TOXICOSIS IN CHILDREN

Abstract. Triiodothyronine (T3) toxicity has been well documented in adults, but only isolated cases have been reported in children. Two girls presented with firm goitres and overt hyperthyroidism. In each patient, total serum thyroxine (T4) values by competitive protein binding were normal, however total T3 values by radioimmunoassay were elevated. One patient had Graves' disease, the second patient had Hashimoto's disease which has been only infrequently associated with T3 toxicity in adults. Both patients responded to therapy with propylthiouracil. The mechanisms by which T3 is preferentially secreted in thyrotoxic states in man are poorly understood, but iodine deficiency and poor iodination of thyroglobulin may be important factors.     

T3 toxicosis in children

Triiodothyronine (T3) toxicity has been well documented in adults, but only isolated cases have been reported in children. Two girls presented with firm goitres and overt hyperthyroidism. In each patient, total serum thyroxine (T4) values by competitive protein binding were normal, however total T3 values by radioimmunoassay were elevated. One patient had Graves' disease, the second patient had Hashimoto's disease which has been only infrequently associated with T3 toxicity in adults. Both patients responded to therapy with propylthiouracil. The mechanisms by which T3 is preferentially secreted in thyrotoxic states in man are poorly understood, but iodine deficiency and poor iodination of thyroglobulin may be important factors.     

Parotitis and acute pancreatitis in a patient with ulcerative colitis

Ulcerative colitis (UC) has been associated with a number of extraintestinal manifestations, but an association with salivary gland involvement has never been reported. We describe a patient with UC who developed acute pancreatitis and parotitis. Some autoantibodies against common antigens presenting in both the parotid gland and the pancreas might have induced pancreatitis and parotitis in our patient with UC.     

儿童第二次非血缘供者造血干细胞移植2例

目的探索非血缘造血干细胞移植后复发病例进行第二次移植的可行性。方法患幼年型慢性粒单细胞性白血病(JMML)及重型β-地中海贫血的两例患儿接受非血缘供者造血干细胞移植后分别于移植后的10个月和1个月后原疾病复发,前者给予福达华加环磷酰胺预处理后输注原供者干细胞,降低预防移植物抗宿主病强度;后者给予含TBI预处理,移植另一非血缘供者外周血干细胞。结果两例患者第二次移植后均获得稳定植入,JMML患者并发急慢性移植物抗宿主病,完全缓解至+24月;地中海贫血患者已完全脱离输血状态至+23月。结论对于非血缘造血干细胞移植后复发的患儿,第二次非血缘供者造血干细胞移植是可行的。     

Mammalian Target of Rapamycin Inhibitor Induced Complete Remission of a Recurrent Subependymal Giant Cell Astrocytoma in a Patient Without Features of Tuberous Sclerosis Complex

The majority of patients with subependymal giant cell astrocytoma (SEGA) have tuberous sclerosis complex (TSC). In such patients, the mammalian target of rapamycin (mTOR) inhibitor everolimus has been shown to induce responses. Isolated SEGA have been reported in patients without clinical or genetic features of TSC. The treatment of these patients with everolimus has not previously been reported. We treated a patient with a recurrent isolated SEGA with an mTOR inhibitor. The patient tolerated therapy well and had a sustained complete remission. MTOR inhibitors may be useful for the treatment of isolated SEGA. Further study is warranted.     

Successful immunization following cord blood transplantation in a child with Diamond-Blackfan anemia

Cord blood transplantation (CBT) has been increasingly used to treat patients with hematological diseases, but active immunizations for patients have not been described. Patients certainly need immunizations following CBT, since transplanted cord blood is naive. The authors previously reported successful hematopoietic reconstitution following cord blood transplantation from an HLA-matched sibling in a transfusion-dependent child with Diamond-Blackfan anemia. No graft-versus-host disease, either acute or chronic, has been observed so far. Here, the authors report that immunological recovery of the patient has been rapid shortly after CBT and immunization has been done successfully. Vaccines (diphtheria, pertussis, tetanus, rubella, measles, and BCG) were administered during 22-34 months post-transplant. Seroconversion to these vaccines was excellent without significant adverse effects. These results indicate that both toxoid and live vaccines have been safely administered in the patient who underwent related cord blood transplantation.     

Phenotypic variability in the Baller-Gerold syndrome: Report of a mildly affected patient and review of the literature

We report a patient with a mild form of the Baller-Gerold syndrome (craniosynostosis-radial aplasia syndrome). The patient, a 3-year 3 month-old boy, has trigonocephaly with bilateral absent radii and thumbs. His growth parameters and psychomotor development have been normal. No visceral anomalies were found. This patient represents a new case of the rare mild form of the syndrome.     

SUCCESSFUL IMMUNIZATION FOLLOWING CORD BLOOD TRANSPLANTATION IN A CHILD WITH DIAMOND-BLACKFAN ANEMIA

Cord blood transplantation (CBT) has been increasingly used to treat patients with hematological diseases, but active immunizations for patients have not been described. Patients certainly need immunizations following CBT, since transplanted cord blood is naive. The authors previously reported successful hematopoietic reconstitution following cord blood transplantation from an HLA-matched sibling in a transfusion-dependent child with Diamond-Blackfan anemia. No graft-versus-host disease, either acute or chronic, has been observed so far. Here, the authors report that immunological recovery of the patient has been rapid shortly after CBT and immunization has been done successfully. Vaccines (diphtheria, pertussis, tetanus, rubella, measles, and BCG) were administered during 22-34 months post-transplant. Seroconversion to these vaccines was excellent without significant adverse effects. These results indicate that both toxoid and live vaccines have been safely administered in the patient who underwent related cord blood transplantation.     

Acute Leukemia in an Infant with Marfan's Syndrome: A Case Report

We describe a familial case of Marfan's syndrome with associated intrathoracic stomach detected during the neonatal period. The patient developed a primitive leukemia at 3 months of age. Acute leukemia in a patient with Marfan's syndrome has not previously been reported.     

Pharmacokinetics of pyridostigmine in a child with postural tachycardia syndrome

Pyridostigmine has been proposed for the treatment of postural orthostatic tachycardia syndrome in adults at a dose of 60 mg twice daily, but no dosing recommendation exists for children. With the approval of our local ethics board, we tested the pharmacokinetics of pyridostigmine in 6 children with myasthenia and a pediatric index patient with severe postural orthostatic tachycardia syndrome whose condition failed all conventional therapy and who had developed significant postural hypertension. Pyridostigmine was quantified by using a validated, semiautomated, and specific high-performance liquid chromatography/tandem mass spectrometry assay in combination with online column-switching extraction and turbo electrospray ionization. The patient with postural orthostatic tachycardia syndrome showed a dose-dependent favorable response to oral pyridostigmine. Pharmacokinetic evaluation revealed a short half-life of 2.29 hours, similar to the 2.0 +/- 0.63 hours in the patients with myasthenia. The patient with postural orthostatic tachycardia syndrome has subsequently been treated at a dose of 45 mg in the morning, 30 mg at lunchtime, and 15 mg at bedtime; after 9 months, there has been persistent positive effect and without additional blood pressure medication. No major adverse effects occurred. Pyridostigmine has been a safe and effective treatment modality for this child with postural orthostatic tachycardia syndrome. The short half-life suggests that dosing 3 times per day is preferable.     

Suppression of Hodgkin's disease in a patient with Cushing's syndrome

Hodgkin's disease, one of the more common tumors in pediatric oncology, has been shown to be highly responsive to steroids in conjunction with other chemotherapy agents. The authors describe a patient with Cushing's syndrome that suppressed his Hodgkin's disease. He developed constitutional symptoms, and his Hodgkin's disease progressed after the removal of his pituitary tumor. The patient is disease-free following ABVD/MOPP chemotherapy. A high level of steroids before treatment, albeit endogenous, did not preclude successful treatment of Hodgkin's disease. The effect of Cushing's syndrome on Hodgkin's disease has not been previously reported.     

Idiopathic primary pulmonary hemosiderosis: treatment with cyclophosphamide and prednisone

The authors present the case of a child diagnosed as having idiopathic pulmonary hemosiderosis at five years of age who had a good clinical outcome at the age of ten years. Initially the patient was treated with prednisone and chloroquine with poor results. When cyclophosphamide was added to prednisone, the patient demonstrated clinical and radiological remission. To date, the patient has been followed for one year without any medication, and has had only one limited episode of hemosiderosis. The authors also suggest that the therapeutic regimen with cyclophosphamide and prednisone may be useful for some selected cases.     

Obstructed hemivagina and ipsilateral renal agenesis with intestinal malrotation

The combination of uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis represents a rare congenital anomaly called Herlyn‐Werner‐Wunderlich syndrome (HWWS) or obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome. Several anomalies have recently been reported to be associated with this syndrome. The present patient with HHWS had multiple anomalies: intestinal non‐rotation, anomalies of the large vessels of the abdomen including duplication of the inferior vena cava and a high‐riding aortic bifurcation, and hypodontia. Hypodontia has never been reported in a patient with HWWS. The patient underwent a preventative Ladd's procedure and vaginal reconstruction. To prevent serious complications from concomitant anomalies such as intestinal malrotation, a patient with HWWS should be evaluated in detail for associated malformations.     

Treatment of retinoblastoma with argon laser photocoagulation

Treatment of retinoblastoma with argon laser photocoagulation in a five-month-old boy is described. His right eye had been enucleated for a large retinoblastoma. A small lesion in the left eye was successfully treated with argon laser. The patient has retained good vision without any complication and there has been no evidence of recurrence for four years.     

Left Hemitruncus With Tetralogy of Fallot and Right Aortic Arch: Rare Survival Beyond the First Decade

Hemitruncus is an uncommon congenital anomaly that has been described in isolation or in association with other congenital cardiac malformations. This report describes a rare case of left hemitruncus with tetralogy of Fallot and a right-sided aortic arch. The patient presented to us in the early second decade. The diagnosis was suspected with echocardiography and confirmed with cardiac catheterization. The patient underwent successful surgical correction of the anomaly.     

Management of ectopic ureterocele with horseshoe kidney

The combination of a horseshoe kidney and ureterocele is a rare complex with no definite genetic or developmental association. Only two cases have been reported historically. Diagnosis and treatment of such a complex can be varied amongst providers. We performed a partial nephrectomy with lower pole reimplant after marsupialization of the ureterocele. The patient currently has no evidence of reflux and has been infection free.     

Novel mutation in the epithelial sodium channel causing type I pseudohypoaldosteronism in a patient misdiagnosed with cystic fibrosis

Cystic fibrosis (CF) is an inherited disorder with a devastating prognosis. Determination of chloride concentration in sweat has been the gold standard test for diagnosing CF for over 50?years and still remains the primary screening test. However, now that the genetic cause is known and can be studied, genetic confirmation is mandatory in every suspected patient. We present a patient who had been clinically diagnosed and whose genetic testing could not confirm CF, leading us to search for other options that may also give a positive sweat test. The patient turned out to suffer type 1 pseudohypoaldosteronism, a condition that may cause severe dehydration, hyponatremia and hyperkalemia episodes if not diagnosed and treated early with sodium supplementation. We found a genetic variation in the epithelial sodium channel gene which has not been reported previously, and we discuss the possibility of it being the cause of our patient's phenotype. Conclusion: this patient clearly illustrates the usefulness of genetic confirmation for CF for the diagnosis and genetic counselling, even when it is clinically oriented, and describes a novel mutation of the amiloride-sensitive epithelial sodium channel possibly causing type 1 pseudohypoaldosteronism.     

Nephritis associated with an infected peritoneovenous LeVeen shunt

A patient with chronic active hepatitis and medically unmanageable ascites developed staphylococcal bacteremia after insertion of a peritoneovenous LeVeen shunt. The patient developed glomerulonephritis, manifested by moderate proteinuria, microscopic hematuria with red cell casts, azotemia, and evidence of complement activation. The protracted infection, urinary, and renal abnormalities subsided after removal of the LeVeen shunt and a 3-week course of antibiotics. The clinical course of this patient is typical of the immune-complex mediated glomerulonephritis that has been previously well described in hydrocephalic patients with chronically infected ventriculoatrial shunts.     

Intussusception of the appendix in a patient with cystic fibrosis

This case report describes the clinical presentation and the radiographic, endoscopic, and pathologic findings in a patient with cystic fibrosis (CF) and intussusception of the appendix. This is the first time that intussusception of the appendix has been documented in a patient with CF. This disorder should be considered in the CF patient with cramping lower abdominal pain or rectal bleeding.     

Growth hormone deficiency associated with the ectrodactyly-ectodermal dysplasia-clefting syndrome and isolated absent septum pellucidum

Two growth hormone-deficient patients with particular developmental defects are presented. One patient had the ectrodactyly-ectodermal dysplasia-clefting syndrome with lobster-claw deformities of the hands; thin, blond, and dry hair and enamel hypoplasia; and a facial raphe on the right side of the philtrum. The other patient had isolated absence of the septum pellucidum. The facial raphe and the absent septum pellucidum are related to cleft lip and septooptic dysplasia, conditions that have been associated with growth hormone failure. The association of the ectrodactyly-ectodermal dysplasia-clefting syndrome with isolated growth hormone deficiency has not been described previously.