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1.
Background
Blue rubber bleb nevus syndrome is a rare disease involving venous malformations.Case characteristics
We present a 6-year-old female with the syndrome, and consumptive coagulopathy.Intervention/Outcome
After management with sirolimus, symptoms resolved.Message
Sirolimus may be a valuable option for reducing bleeding complications and cosmetic sequelae for the patients with this syndrome.2.
Background
The clinical management of intravenous immunoglobulin-resistant Kawasaki disease shock syndrome (KDSS) is obscure.Case characteristics
Three children presented with intravenous immunoglobulin-resistant KDSS complicated with myocarditis.Outcome
All cases were successfully managed with steroid pulse therapy.Message
Steroid pulse therapy is effective in immunoglobulin-resistant KDSS.3.
Background
Nephrotic syndrome is a rare but severe feature of IgA nephropathy.Case characteristics
Nine Japanese children with severe IgA nephropathy with nephrotic syndrome.Intervention
All received low-dose intravenous methylprednisolone (IVMP) within five weeks after the disease onset. Eight out of nine patients achieved resolution of proteinuria without severe adverse events.Message
Early low-dose intravenous methylprednisolone may be safe and effective for children with severe IgA nephropathy with nephrotic syndrome.4.
Zeynep Canan Özdemir Yeter Düzenli Kar Coþkun Yarar Suzan Þaylýsoy Özcan Bör 《Indian pediatrics》2017,54(5):413-415
Background
Lymphoma-associated incomplete Miller-Fisher syndrome is very rare.Case Characteristics
An 11-year-old boy who initially presented with headache, left ptosis, diplopia and weakness. Neurologic examination indicated left sided ptosis with ophthalmoplegia.Observations
Cerebral imaging and cerebrospinal fluid examinations were normal. Magnetic resonance imaging of the abdomen showed a mass lesion in the ileal loops. A bone marrow biopsy showed infiltration by Burkitt’s lymphoma.Message
Burkitt lymphoma may present with incomplete Miller Fisher syndrome.5.
Background
Antiphospholipid syndrome is a multisystem auto-immune disorder characterized by arterial or venous thrombosis in children.Case characteristics
11-year-old child with pneumococcal meningitis also had cerebral sinus vein thrombosis and pulmonary artery segmental thrombosis.Observation
Pro-thrombotic evaluation showed positive lupus anticoagulant at baseline and after 12 weeks. Investigations for lupus were negative at admission and after one year of follow-up.Message
Antiphospholipid syndrome is a possibility even in thrombosis occurring in the setting of meningitis.6.
Background
A recent randomized control trial in children with steroid-resistant nephrotic syndrome revealed that two doses of rituximab did not reduce proteinuria.Case characteristics
A 14-month-old boy developed refractory steroid-resistant nephrotic syndrome due to focal segmental glomerulosclerosis.Observation
The patient achieved complete remission 11 months after disease onset following eight doses of rituximab combined with steroids and cyclosporine.Message
Long-lasting B cell depletion with repeated rituximab administrations may be required to achieve complete remission in patients with steroid-resistant nephrotic syndrome and massive proteinuria.7.
M. Joseph John Chepsy C. Philip Amrith Mathew Abhilasha Williams Naveen Kakkar 《Indian pediatrics》2017,54(4):327-328
Background
Allogeneic stem cell transplant is the only curative treatment for Wiskott-Aldrich syndrome.Case characteristics
18-months-old boy with no sibling, cord blood or matched unrelated donor transplant options.Outcome
Doing well 7 years after haploidentical stem cell transplantation using unmanipulated bone marrow as the stem cell source.Message
Father as a haplo-identical donor is a feasible option.8.
9.
Meriem Zahed-Cheikh Barthélémy Tosello Stéphanie Coze Catherine Gire 《Indian pediatrics》2017,54(6):495-497
Background
The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS type VIA) is an autosomal recessive disorder characterized by connective tissue dysplasia.Case characteristics
We report two children with perinatal stroke; accompanied by neonatal joint hypermobility, hypotonia; and early development of kyphoscoliosis.Outcome
Molecular analysis revealed a PLOD1 gene mutation. Our definitive diagnosis was a EDS VIA.Message
Prenatal brain stroke is a rare clinical feature of EDSVIA.10.
11.
Rajeev Redkar Anant Bangar Varun Hathiramani Vinod Raj C. Swathi 《Indian pediatrics》2018,55(10):871-873
Objective
To study the diagnostic methods and treatment outcomes in children with Budd-Chiari syndrome.Methods
Case records of 25 patients with Budd-Chiari syndrome were evaluated retrospectively. These patients were investigated with imaging techniques and underwent balloon angioplasty or surgical management.Results
21 patients underwent balloon angioplasty, of which 17 had good medium- to long-term results, while only one out of four patients who underwent a portocaval shunt survived.Conclusion
The balloon angioplasty has satisfactory outcome in the treatment of acute Budd-Chiari syndrome. In failed cases, the surgical therapy may be attempted, but the outcomes do not appear rewarding.12.
Shrishail Gidaganti M. M. A. Faridi Manish Narang Prerna Batra 《Indian pediatrics》2018,55(3):206-210
Objective
To compare the incidence of meconium aspiration syndrome and feed intolerance in infants born through meconium stained amniotic fluid with or without gastric lavage performed at birth.Setting
Neonatal unit of a teaching hospital in New Delhi, India.Design
Parallel group unmasked randomized controlled trial.Participants
700 vigorous infants of gestational age ≥34 weeks from through meconium stained amniotic fluid.Intervention
Gastric lavage in the labor room with normal saline at 10 mL per kg body weight (n=350) or no gastric lavage (n=350). Meconiumcrit was measured and expressed as ≤30% and >30%.Outcome Measures
Meconium aspiration syndrome, feed intolerance and procedure-related complications during 72 h of observation.Results
5 (1.4%) infants in lavage group and 8 (2.2%) in no lavage group developed meconium aspiration syndrome (RR 0.63, 95% CI 0.21, 1.89). Feed intolerance was observed in 37 (10.5%) and 53 infants (15.1%) in lavage and no lavage groups, respectively (RR 0.70, 95% CI 0.47, 1.03). None of the infants in either group developed apnea, bradycardia or cyanosis during the procedure.Conclusion
Gastric lavage performed in the labor room does not seem to reduce either meconium aspiration syndrome or feed intolerance in vigorous infants born through meconium stained amniotic fluid.13.
S. Mehar Sulthana S. Nandha Kumar M. G. Sridhar B. Vishnu Bhat K. Ramachandra Rao 《Indian journal of pediatrics》2012,79(11):1473-1476
Objectives
To confirm the clinical diagnosis of Down syndrome by chromosomal analysis and to explore the oxidative stress in children with Down syndrome by estimating the levels of non enzymatic antioxidants like reduced glutathione(GSH) and total antioxidants status (TAS).Methods
The study included 31 clinically diagnosed children with Down syndrome with equal number of age and sex matched controls. Trisomy 21 was confirmed by conventional lymphocyte cell culture. Erythrocytic reduced glutathione (GSH) and plasma total antioxidant status (TAS) were measured sphectrophotometrically.Results
The levels of erythrocytic reduced glutathione (GSH) and plasma total antioxidant status (TAS) were significantly reduced in children with Down syndrome.Conclusions
Children with Down syndrome have elevated levels of oxidative stress . Hence antioxidant therapy can be beneficial among them.14.
Manoja Kumar Das Vidyut Bhatia Anupam Sibal Abha Gupta Sarath Gopalan Raman Sardana Reeti Sahni Ankur Roy Narendra K Arora 《Indian pediatrics》2017,54(12):1012-1016
Objective
To document the prevalence of non-alcoholic fatty liver disease (NAFLD) and metabolic parameters among normalweight and overweight schoolchildren.Design
Cross-sectional study.Setting
Thirteen private schools in urban Faridabad, Haryana.Participants
961 school children aged 5-10 years.Methods
Ultrasound testing was done, and 215 with fatty liver on ultrasound underwent further clinical, biochemical and virological testing.Outcome measures
Prevalence of fatty liver on ultrasound, and NAFLD and its association with biochemical abnormalities and demographic risk factors.Results
On ultrasound, 215 (22.4%) children had fatty liver; 18.9% in normal-weight and 45.6% in overweight category. Presence and severity of fatty liver disease increased with body mass index (BMI) and age. Among the children with NAFLD, elevated SGOT and SGPT was observed in 21.5% and 10.4% children, respectively. Liver enzyme derangement was significantly higher in overweight children (27% vs 19.4% in normal-weight) and severity of fatty liver (28% vs 20% in mild fatty liver cases). Eleven (8.1%) children with NAFLD had metabolic syndrome. Higher BMI (OR 35.9), severe fatty liver disease (OR 1.7) and female sex (OR 1.9) had strong association with metabolic syndrome.Conclusions
22.4% of normal-weight and overweight children aged 5-10 years had fatty liver. A high proportion (18.9%) of normal-weight children with fatty liver on ultrasound indicates the silent burden in the population.15.
Ahmet Celik Sibel Tiryaki Sukran Darcan Orkan Ergun 《World journal of pediatrics : WJP》2016,12(2):246-248
Background
Splenogonadal fusion is a rare congenital anomaly which is characterized by fusion formation between the spleen and gonad.Methods
We report a case of a 14-month boy with spleongonadal fusion-limb deformity syndrome focusing on the importance of awareness of this syndrome.Results
The patient was admitted to our clinic because of a left undescended testis, and preoperative diagnosis was not made. During the operation, “spleen-like” tissue attached to the gonad induced splenogonadal fusion, which was confirmed by laparoscopy. The patient also had a short right femur, hip dysplasia and a syndromic face.Conclusion
Splenogonadal fusion anomaly should be considered in the evaluation of undescended testis, especially in patients with facial and limb deformities.16.
Background
Synovial arteriovenous malformation is rare.Case characteristics
We present three children with recurrent monoarthritis secondary to synovial arteriovenous malformation.Outcome
Two children underwent excision of arteriovenous malformation. Another child had diffuse arteriovenous malformation, which was inoperable.Message
Synovial arteriovenous malformations should be considered in the differential diagnosis of monoarthritis, especially of the knee.17.
Background
Immunodeficient children are more prone for invasive cryptococcal infections.Case characteristics
A 2-year-old boy with disseminated cryptococcosis was evaluated for underlying immunodeficiency without success.Intervention/outcome
Child was managed successfully.Message
Immunocompetent children with disseminated cryptococcosis can present diagnostic or therapeutic challenge in resource-limited settings.18.
Background
Maternal electrolyte imbalance is rarely reported as causative factor of severe perinatal brain injury.Case characteristics
This case outlines a unique maternal and neonatal pseudo-Bartter syndrome presented with metabolic alkalosis and hypochloremia due to maternal severe vomiting.Observation
Neonatal MRI brain revealed extensive brain hemorrhages with porencephalic cysts. Subsequent investigation workup points towards maternal severe metabolic alkalosis as its cause.Message
Careful medical attention should be paid to pregnant women with excessive vomiting to ensure a healthy outcome for both the mother and the baby.19.
Nevitha Athikari Manamal Tanu Singhal Abhaya Kumar Darshana Sanghvi Jayanti Mani 《Indian pediatrics》2018,55(11):993-994
Background
Neuroschistosomiasis is an uncommonly reported disease.Case characteristics
An adolescent Indian boy residing in Kenya presented with headache, visual symptoms and seizures, with MRI showing space-occupying lesions in the occipital lobe and cerebellum.Observation
Brain biopsy was diagnostic of neuro-schistosomiasis; complete recovery was seen with praziquantel and corticosteroid therapy.Message
This case highlights the importance of considering epidemiology in differential diagnosis and establishing definitive diagnosis even if it is by invasive methods.20.