Congenital Letterer-Siwe disease associated with protein losing enteropathy

A case of congenital Letterer-Siwe disease associated with protein losing enteropathy is presented. The patient was born at term after an uneventful pregnancy, and generalized eczematous skin eruptions were observed at birth. Excessive protein loss from the intestine was recognized. A cutaneous biopsy from typical lesions revealed histiocytic infiltrations and Langerhans' cell granules in the cytoplasm of the histiocytes.     

Transient methemoglobinemia in an infant

We report a case of transient methemoglobinemia in an infant due to gastroenteritis. Methemoglobinemia should be suspected in infants with a history of diarrhea and cyanosis that is out of proportion to the history and clinical examination. Methemoglobinemia can be life threatening, but outcome is good when treated with IV methylene blue.     

Detecting protein losing enteropathy by Tc-99m dextran scintigraphy: a novel experience

OBJECTIVE: To evaluate protien using enteropathy by Tc-99m dextran scintigraphy. METHODS: Methods for detecting protein loss from the intestine revolve around fecal nitrogen excretion, the clearance of alpha-1 antitrypsin in stools and by endoscopic biopsy. RESULT: The diagnosis of protein-losing enteropathy (PLE) can also be established by a scintigraphic method that is noninvasive, simple and requires no patient preparation or motivation. This diagnostic modality can also delineate the site of protein loss, thereby offering a targeted approach, and if need be, surgery. Radiolabelling of a non-protein, noncolloidal, nonparticulate and biofriendly molecule like dextran with Technetium-99m for imaging enteric protein loss was utilized in imaging eight children with PLE. CONCLUSION: The results were encouraging. The authors advocate the use of this diagnostic tool in identifying patients with PLE, particularly in the pediatric age group.     

Detecting protein losing enteropathy by Tc-99m dextran scintigraphy: A novel experience

Objective: To evaluate protien using enteropathy by Tc-99m dextran scintigraphy.Methods: Methods for detecting protein loss from the intestine revolve around fecal nitrogen excretion, the clearance of α-1 antitrypsin in stools and by endoscopic biopsy.Result: The diagnosis of protein-losing enteropathy (PLE) can also be established by a scintigraphic method that is noninvasive, simple and requires no patient preparation or motivation. This diagnostic modality can also delineate the site of protein loss, thereby offering a targeted approach, and if need be, surgery. Radiolabelling of a non-protein, noncolloidal, nonparticulate and biofriendly molecule like dextran with Technetium-99m for imaging enteric protein loss was utilized in imaging eight children with PLE.Conclusion: The results were encouraging. The authors advocate the use of this diagnostic tool in identifying patients with PLE, particularly in the pediatric age group.     

感染性疾病低蛋白血症发病机制的研究进展

低蛋白血症是临床许多疾病常见的并发症,可影响疾病预后,尤其是危重症的预后.血清白蛋白降低时,往往提示病情凶险、预后不良.在儿科临床上,低蛋白血症也被视为急性感染的一个常见特征.因此,重视感染后低白蛋白血症发生机制的探讨对临床干预及降低病死率有着至关重要的作用.但感染致低白蛋白血症的发生机制至今尚未完全阐明.本文着重从白蛋白的分解代谢、合成代谢、分布异常、半衰期及蛋白丢失性肠病等方面来阐述感染所致低蛋白血症的可能机制.     

A simple screening method for detecting gastrointestinal protein loss in intestinal lymphangiectasia

A ten month old female Turkish child with chylous ascites, diarrhea, steatorrhea, peripheral edema and hypoproteinemia was investigated for protein losing enteropathy which probably dated from the first weeks of life. Gastrointestinal protein loss appeared to be due to abnormalities of the intestinal lymphatics. In order to detect a localized lymphoenteric fistula, lymphangiography was tried but failed due to hypoplasia of peripheral lymphatics. However, three hours after intradermal injection of Patent Blue, the dye appeared in the stools of the patient, suggesting intestinal protein loss via a lympho-enteric fistula.This observation may provide the basis for a diagnostic test for gastro-intestinal protein loss in patients with intestinal lymphangiectasia.     

脓毒症患儿低蛋白血症与CRP及PCT的相关性

目的：探讨脓毒症患儿低蛋白血症与炎症指标的相关性。方法：收集确诊为脓毒症患儿73例,其中严重脓毒症22例,并收集非脓毒症患儿40例作为对照组,测定血清白蛋白水平,并根据白蛋白水平将73例脓毒症患儿分为3个亚组：轻度低蛋白血症组、重度低蛋白血症组和白蛋白正常组,比较3个亚组CRP、PCT、WBC的变化,并对3个炎症指标与白蛋白水平进行相关性分析。结果：严重脓毒症组和非严重脓毒症组白蛋白水平明显低于对照组（P<0.05）。其中严重脓毒症组白蛋白水平较非严重脓毒症组降低,差异有统计学意义（P<0.05）。73例脓毒症患儿中,轻、重度低蛋白血症组 CRP、PCT及WBC均高于白蛋白正常组（分别P<0.05,P<0.01）,而重度低蛋白组明显高于轻度低蛋白血症组（P<0.05）。重度低蛋白组多器官功能衰竭的发生率较白蛋白正常组增高（P<0.05）,且血清白蛋白水平与CRP、PCT、WBC呈负相关。结论：脓毒症患儿白蛋白水平明显降低,且随病情的加重而进一步降低,白蛋白水平越低,预后越差。反应脓毒症的炎症指标CRP、PCT、WBC与血清白蛋白水平呈负相关。［中国当代儿科杂志,2010,12（11）：870-873］     

Protein‐losing enteropathy and erythema caused by egg allergy in a breast‐fed infant

A 4‐month‐old breast‐fed girl presented with poor weight gain, and had edema and repeated erythema from 5 months of age. The diagnosis of protein‐losing enteropathy (PLE) was confirmed on ^99mTc‐labeled human serum albumin scintigraphy. Specific IgE radioallergosorbent test was class 3 for egg white, class 2 for egg yolk, and negative for other foods. Elimination of egg from the mother's diet and oral epinastine hydrochloride treatment and sodium cromolyn improved hypoalbuminemia, hypogammaglobulinemia, and erythema. PLE and erythema coincident in a breast‐fed infant suggests that IgE‐mediated allergy may play a leading role in some cases of PLE due to food allergy in infants.     

Diverse multi‐organ histopathologic changes in a failed Fontan patient

We report multi‐organ histopathological changes in a patient with protein‐losing enteropathy (PLE) over 12 years after Fontan operation. A 14‐year‐old boy with right isomerism heart and single ventricle had undergone Fontan procedure at 19 months of age, and PLE was diagnosed at 28 months. He had several episodes of intestinal bleeding and pre‐renal failure with elevated creatine, and eventually died of pneumonia. The intrapulmonary small arteries showed medial and intimal thickening resembling pulmonary hypertension. No major ulcerative lesions were found in the small or large intestines. Dilated lymph ducts, one of the characteristic features of PLE, were not seen in mucosal and submucosal areas. Liver cirrhosis was obvious despite little increase in liver enzymes. Histological changes in bilateral kidneys were subtle despite repeated episodes of renal failure. Thus, there may be significant discrepancies between clinical manifestations and multi‐organ histological changes in failed Fontan patients.     

A case of hypertrophic protein losing gastropathy

A 3 1/2 year old boy presented with a history of vomiting and generalized oedema. Biochemically proven protein losing enteropathy was associated with huge gastric fundal rugae on barium examination. Gastroscopy confirmed the barium findings but biopsy material demonstrated normal mucosa. The condition regressed on a high protein diet. Cytomegalovirus (CMV) was found in the urine after the illness had subsided.     

Transient antiphospholipid antibodies associated with acute infections in children: a report of three cases and a review of the literature

We describe two previously healthy children who had multiple ecchymoses several days after acute infection. In both cases, the prothrombin time (PT) and the activated partial thromboplastin time (APTT) were prolonged. Further examinations revealed the presence of lupus anticoagulant (LA), phosphatidylserine-dependent antiprothrombin antibodies (aPS/PT), and low serum complement. In both cases, we confirmed the presence of a serum immune complex. The patients’ symptoms improved spontaneously within 1 week, and all laboratory data normalized within several months. We also describe another asymptomatic case positive for LA and aPS/PT presumably associated with cytomegalovirus infection. The prevalence of transient antiphospholipid antibodies associated with viral infections in children must be much higher than we expected. We have to take it into consideration when we see abnormal coagulation results, but the occurrence of significant bleeding symptoms is rare.     

Complicated Henoch–Schönlein purpura

We present a case of Henoch Schonlein pupura in a 6‐year‐old boy demonstrating some of the diagnostic pitfalls, complications and management challenges of this common paediatric condition.     

Transient dilatation of the abdominal aorta in an infant with Kawasaki disease associated with thrombocytopenia

We report on an 8 month old infant with Kawasaki disease associated with giant coronary aneurysms and transient thrombocytopenia. The patient's platelet count decreased to 24000/mm³ on the 31st day of illness and fibrin degradation product was 5 μg/mL. Platelet count increased to the normal level (357000/mm³) on the 35th day of illness. On the 27th day of illness, dilatation of the distal abdominal aorta adjacent to the bifurcation of the iliac arteries was observed by B-mode and color Doppler ultrasonography. It gradually returned to a normal size by the 45th day of illness. Aspirin administered from the 3rd to the 26th day of illness was replaced with flubioprophen because of liver dysfunction. Although we can not eliminate aspirin allergy as the cause of the transient thrombocytopenia, we think that the thrombocytopenia may have been related to the regression of the abdominal aorta.     

Massive Intestinal Albumin Loss after Fontan Operation

Massive intestinal protein loss was demonstrated and the site of loss determined by abdominal scintigraphy with _99mTc-labeled human serum albumin in a 9-year-old girl following the Fontan operation for pulmonary atresia with intact ventricular septum. Significant activity accumulating in the lower small intestine and moving with its contents into the colon were shown. Her condition may have resulted from intestinal lymphangiectasia, caused by increased central venous pressure. Abdominal scintigraphy with _99mTc-human serum albumin is useful in the diagnosis of protein-losing enteropathy.     

Severe Transient Left Ventricular Hypertrophy in an Infant with Acute Myocarditis and Heart Failure

A case of rare acute myocarditis with heart failure and transient left ventricular hypertrophy in a 4.5-month-old male infant is described. Initial echocardiogram demonstrated severe concentric left ventricular hypertrophy with depressed left ventricular systolic function and reduced left ventricular cavity. Left ventricular hypertrophy was transient; it decreased significantly within a couple of weeks concomitantly with the improvement of ejection fraction. The myocarditis resolved without sequelae. The natural course of this rare mode of presentation of myocarditis and its relationship to immunosuppressive and immunomodulatory treatment are discussed.     

Successful diuretics treatment of protein‐losing enteropathy in Noonan syndrome

There are few reports on successful high‐dose spironolactone treatment of refractory protein‐losing enteropathy (PLE) caused by Fontan procedure. We report successful diuretics treatment with spironolactone and furosemide at standard dose, of refractory PLE in a patient with Noonan syndrome and repaired congenital heart disease. This is the first successful application of diuretics treatment in a patient with refractory PLE without Fontan procedure. This case illustrates that diuretics treatment can be the first‐line treatment of PLE regardless of the causative physiology, and can be effective in refractory PLE with Noonan syndrome.     

Dopamine as a potential rescue therapy for refractory protein‐losing enteropathy in Fontan‐palliated patients

PLE is an important cause of morbidity and mortality in patients who have undergone Fontan palliation. While multiple PLE therapies have been reported, none has proved consistently effective. Patients who do not respond to “standard” PLE therapies face poor long‐term outcomes. We report here a significant response to dopamine infusion in three patients with chronic, refractory PLE. We hypothesize that this response may be at least partially due to a dopamine effect on lymphatic receptors rather than to an augmentation of cardiac output.