Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome

We describe clinical, biochemical, and molecular findings in a 2(1/2)-year-old girl with a phosphomannose isomerase deficiency who presented with severe and persistent hypoglycemia and subsequently developed protein-losing enteropathy, liver disease, and coagulopathy. Six months of therapy with mannose supplementation resulted in clinical improvement and partial correction of biochemical abnormalities.     

Rituximab for successful management of probable pediatric catastrophic antiphospholipid syndrome

Catastrophic antiphospholipid syndrome (CAPS) is a life‐threatening condition characterized by small‐vessel thrombi and a rapid onset of multiorgan system failure associated with systemic inflammatory response syndrome. Current treatment options include anticoagulants, corticosteroids, plasma exchange, and intravenous immunoglobulin, but these are not always effective. Rituximab, a chimeric anti‐CD20 monoclonal antibody, may help eliminate autoreactive B cells and thus limit the rapid inflammatory process involved in CAPS. We describe the use of rituximab in the successful initial management of a probable case of pediatric CAPS. Pediatr Blood Cancer 2009;52:536–538. © 2008 Wiley‐Liss, Inc.     

Childhood acute myelomonocytic leukemia (AML-M4) presenting as catastrophic antiphospholipid antibody syndrome

: The authors describe a 15-year-old girl presenting with a cerebral ischemic stroke as the first manifestation of catastrophic antiphospholipid antibody syndrome secondary to acute myeloid leukemia (AML). Despite treatment with anticoagulants, therapeutic plasma exchange, and chemotherapy, the patient developed multiorgan thromboses and failure, eventually culminating in death. This unusual presentation of AML has not been previously described in children. Clinical features of antiphospholipid antibody syndrome and current knowledge regarding its association with malignancies are reviewed.     

Human granulocytic ehrlichiosis presenting as abdominal pain

Human granulocytic ehrlichiosis (HGE) is an emerging infectious disease that primarily affects adults. Typical clinical features include fever, headache, and myalgias. This case represents the youngest reported patient with HGE. Her clinical presentation was unusual in that she presented with severe abdominal pain. In addition, she did not develop the typical spectrum of laboratory abnormalities that has been reported in adults. This patient's course suggests that the presentation of HGE may be more varied than previously reported.     

Cushing syndrome as a presenting symptom of renal tumors in children

Cushing syndrome as the presenting symptom of a malignant renal tumor in children is rare. We report the first case of paraneoplastic Cushing syndrome due to a Wilms tumor, in which clinical and biological signs of hypercortisolism regressed during preoperative chemotherapy. Additionally, we reviewed the literature on paraneoplastic Cushing syndrome secondary to pediatric renal tumors. Pediatr Blood Cancer 2009;53:211–213. © 2009 Wiley‐Liss, Inc.     

以再发性腹痛为首发症状的全身性疾病

儿童时期以再发性腹痛 (ＲＡＰ)为首发症状的疾病中 ,器质性疾病约占 5% ,功能异常者占 85% ,心理问题占 1 0 % [1 ] 。所涉及的疾病范围甚广。全身性器质性疾病如消化系统 :有溃疡病 ,胃肠道感染 ,肠系膜淋巴结炎 ;泌尿生殖系统 :有泌尿道感染 ,肾结石 ,盆腔炎 ,子宫内膜异位症等 ;肝胆系统 :有肝炎 ,家族性胰腺炎 ,胆囊炎等 ;代谢性疾病有血卟啉症 ,家族性高脂血症等 ;其它 :如铅中毒 ,荨麻疹 (腹型 ) ,遗传性血管神经性水肿 ,过敏性紫癜 (腹型 ) ,系统性红斑狼疮等。功能异常者有乳糖、蔗糖不耐受 ,便秘 ,肠道气体综合征 ,肠道运动功能增…     

Wandering spleen presenting as recurrent abdominal pain in a young female

A young female child presented to our OPD for evaluation of recurrent abdominal pain. During the process of investigation USG abdomen and subsequently CECT abdomen revealed pelvic location of spleen. Splenopexy was performed and patient discharged. Patient is asymptomatic and on regular follow up.     

Tall stature as presenting symptom in a girl with triple X syndrome

An 11 year-old girl presented with 47,XXX karyotype. Our report emphasizes the fact that triple X syndrome has also to be considered in girls presenting with tall stature that is not explained by parental heights.     

Churg-Strauss syndrome presenting as an abdominal mass in a non-asthmatic child

A 2-year-old boy presented with an abdominal mass and was diagnosed as Churg-Strauss syndrome (CSS). There was no history of asthma. He developed fatal gastro-intestinal disease, despite treatment with corticosteroids and cyclophosphamide. CSS is extremely rare in young children and gastro-intestinal involvement might carry a worse prognosis than in adults.     

Primary antiphospholipid syndrome presenting as complicated Henoch-Sch?nlein purpura.

A child showing signs of Henoch-Sch?nlein purpura developed a right tibiofibular vascular thrombosis. Antiphospholipid antibody tests were positive for both lupus anticoagulant and anticardiolipin antibodies. This suggests that an antiphospholipid syndrome should be considered in cases of Henoch-Sch?nlein purpura and antiphospholipid antibodies should be measured to determine whether prophylactic antithrombotic measures are needed to prevent thrombotic manifestations.     

Cytomegalovirus enterocolitis presenting as abdominal compartment syndrome in a premature neonate

Background  

Cytomegalovirus (CMV) enterocolitis is an uncommon intestinal disorder of newborns that is often initially misdiagnosed as necrotizing enterocolitis.     

Ornithine transcarbamylase deficiency presenting as recurrent abdominal pain in childhood

Recurrent abdominal pain remains one of the most common symptoms in pediatrics. We present the case of a 3-year-old girl who had recurrent episodes of abdominal pain requiring more than 13 visits to the emergency department. A diagnosis of ornithine transcarbamylase deficiency was eventually made. Urea cycle disorders often present beyond the neonatal period with frequent vomiting episodes; however, recurrent abdominal pain as a presenting symptom is unusual. Unnecessary invasive investigations of recurrent abdominal pain in childhood can be avoided by considering inborn errors of metabolism earlier in the differential diagnosis.     

以阵发性腹痛为主要表现的肺吸虫病一例

患儿,女,8岁,于2003年10月12日入院。主诉反复腹痛1个月,表现为阵发性脐周疼痛,较剧烈,数分钟能自行缓解,无放射痛,与进食无关,无恶心、呕吐,无发热、畏寒,无腹泻、便血,每周腹痛发生3～4次。当地医院以“慢性胃炎”治疗多次,但疗效不明显,入院前2d于进食辛辣食物后再次腹痛,遂转诊本院。患儿既往体健,无类似疾患史。查体：体温37．0℃,心率98次／min,呼吸25次／min,血压88／59mmHg（1mmHg=0．133kPa）,精神可,神志清,面色略苍白,心肺听诊无特殊,全腹平软,肝脾肋下均未触及,未及包块,全腹无压痛,反跳痛,肠鸣音正常,全身皮肤无结节及包块。入院初步诊断：腹痛待查。     

Lethargy as a presenting symptom in patients with intussusception

The author's experience with lethargy in pediatric patients with intussusception was reviewed retrospectively over a 10-year period and proved to be a symptom elicited on admission in half of the patients. The results indicate that lethargy is an important symptom in patients with intussusception when occurring in association with vomiting, melena, or a palpable abdominal mass, or all three.     

Ectopic pelvic kidney with urinary tract infection presenting as lower abdominal pain in a child

Ectopic pelvic kidney is a rare developmental anomaly. Ectopic pelvic kidney can present without the characteristic symptoms associated with the urinary tract pathology. Ectopic pelvic kidney is usually unknown, and nonspecific vague abdominal comfort maybe the only symptom. Early detection and recognition of an ectopic kidney can prevent long-term complications. We report a 3-year-5-month-old girl with ectopic pelvic kidney who experienced intermittent episodes of lower abdominal pain for about 1 month. Abdominal ultrasound, computed tomography, and intravenous pyelography demonstrated a pelvic kidney. Thereafter, the urinalysis showed pyuria (white blood cell 20/high power field), and urine culture grew Escherichia coli. We emphasize that pelvic kidney should be considered in patients presenting unexplained vague abdominal pain, especially in pediatric patients who had intermittent recurrent episodes.     

Diabetes insipidus as a presenting symptom of acute myelogenous leukemia

This report describes a case of diabetes insipidus associated with acute myelogenous leukemia. An 11-year-old boy presented with fatigue, polydipsia and polyuria. His evaluation revealed a diagnosis of acute myelogenous leukemia FAB-M2, and a water deprivation test confirmed the diagnosis of central diabetes insipidus. His brain magnetic resonance imaging (MRI) showed a thickened, enhancing pituitary stalk with absence of the normal hyperintense signal in the posterior pituitary. He was treated with systemic chemotherapy, intensive intrathecal therapy, and 1,000 cGy to the pituitary. The patient achieved a remission but continued to need desmopressin therapy to control his diabetes insipidus. Diabetes insipidus is a rare complication of acute myelogenous leukemia that can be caused by leukemic infiltration of the pituitary. The diabetes insipidus is irreversible despite intensive systemic and central nervous system chemotherapy and radiation.