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1.
Background
Brucella has been known to cause pyrexia of unknown origin.Case Characteristics
9-year-old boy with fever and abdominal pain; multiple abscesses within the liver on ultrasonography.Observations
IgM Antibodies against Brucella were raised in his serum sample, and Brucella serum agglutination test was positive. Immunological work-up suggested selective IgA deficiency. Reduction in size following treatment with trimethoprim-sulphamethoxazole, amikacin and doxycycline.Message
Brucellosis should be considered as an etiology of liver abscess in patients not responding to conventional antibiotics.2.
Background
Neonatal purpura fulminans due to congenital protein C deficiency is a rare disorder.Case characteristics
A four-day-old neonate presented with multiple necrotic skin lesions with abnormal coagulation profile.Intervention and outcome
Skin lesions responded to repeated plasma transfusions but the neonate developed bilateral retinal detachment. A novel homozygous PROC gene mutation was noted in the neonate.Message
Molecular diagnosis and prenatal counseling in neonatal purpura fulminans are vital considering the poor outcome.3.
Vasanthan Tanigasalam B. Vishnu Bhat Sharmila Manivannan Malathi Munisamy Swapnil Parchand 《Indian pediatrics》2018,55(7):601-602
Background
Schimmelpenning syndrome is a multisystem disorder.Case characteristics
A term female neonate with sebaceous nevi of the face had choroid osteoma of the right eye.Observation
At one month of age, the infant was observed to have choroidal neovascularization that was successfully treated with laser photocoagulation and anti-VEGF.Message
Choroid osteoma and neovascularization are rare associations of Schimmelpenning syndrome, and should be screened for and managed early.4.
Background
Adenine phosphoribosyltransferase (APRT) deficiency is an uncommon genetic cause of chronic kidney disease due to crystalline nephropathy.Methods
A case of a Chinese boy with APRT deficiency presenting with severe acute kidney injury secondary to obstructive uropathy from multiple renal calculi was reviewed.Results
The patient underwent staged removal of the calculi. Infrared spectrometry of the renal calculi showed 2,8-dihydroxyadenine. APRT deficiency was confirmed with abolished APRT enzyme activity in red blood cells. He was started on allopurinol and low purine diet with complete resolution of the residual calculi.Conclusion
APRT deficiency should be considered in patients with multiple radiolucent renal calculi.5.
Background
Disorders of the thyroid function of mother and child can not only irreversibly inhibit maturation of the central nervous system, but may also affect growth and puberty.Objectives
Review of the consequences of thyroid function disorders on the growth of children and adolescents and the relevance of adequate treatment.Materials and Methods
This article summarises the current literature concerning the effect of thyroid hormone disorders of mother and child and their therapy on growth.Results
Every untreated manifestation of congenital or acquired hypothyroidism is associated with a delay of growth and skeletal maturation. In children presenting with acquired hyperthyroidism, height is shifted towards higher values and skeletal maturation is accelerated. Approximately 20?% of children and adolescents with Down syndrome develop primary hypothyroidism, frequently manifesting within the first months of life (approximately 5.5?%). Adequate treatment of the thyroid disorder can normalise growth disorders. About 6?% of children with growth hormone deficiency develop abnormally low free thyroxin (fT4) levels in serum during growth hormone treatment due to increased conversion of T4 to T3. There is no indication for treatment after excluding secondary hypothyroidism.Conclusions
Early diagnosis and timely, adequate treatment of thyroid function disorders of mother and child are essential to achieving growth that is as age-appropriate as possible in affected children and adolescents6.
Halil Ibrahim Aydin 《Indian pediatrics》2018,55(1):67-68
Background
Creatine transporter deficiency (CTD) is a treatable, X-linked, inborn error of metabolism.Case characteristics
Two brothers with autism spectrum disorder were diagnosed with CTD at the ages of 17 and 12 years. Both were found to have a previously reported hemizygous p.408delF (c.1216_1218delTTC) deletion mutation.Outcome
Both patients were given creatine monohydrate, L-arginine, L-glycine and S-adenosylmethionine, which partially improved the behavioral problems.Message
Serum creatinine levels, creatine peak at brain MR spectroscopy or creatine/creatinine ratio in urine should be evaluated to identify CTD in children with autistic behavior and language disorders.7.
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.8.
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.9.
Mini Sreedharan Kalpana Devadathan P. A. Mohammed Kunju Bindusha Sasidharan Jayakumar Parameswaran Pillai Minikumari Amma Vasumathy Amma Saboorabeegum MuthuBeevi 《Indian pediatrics》2018,55(4):307-310
Objective
To assess the effect of monotherapy with Carbamazepine (CBZ) and Sodium valproate (VPA) on serum 25-OH vitamin D levels in children with epilepsy compared to controls.Design
Cross-sectional study.Setting
Outpatient department of a tertiary-care Pediatric Neurology centre, and a nearby day-care centre and school.Study period
June 2012 to May 2013Participants
Children with epilepsy aged 2 to 13 years on monotherapy with CBZ (n=28) or VPA (n=28) for at least 6 months; 109 age-matched controls from a nearby day-care centre and school.Results
The median (IQR) values of 25 (OH) vitamin D was 18.0 ng/mL (13.7-27.3), 21.35 ng/mL (16.4 -25.2) and 30.5 ng/mL (19.1-43.7) in CBZ, VPA and control group, respectively (P=0.008). 60.7% of patients in CBZ group and 35.7 % in VPA group had low 25 (OH) D levels (<20 ng/mL) compared to 27.8% in controls (P=0.001).The serum alkaline phosphatase level was higher in children on carbamazepine therapy (P=0.001) than controls.Conclusion
This study identifies significant risk of vitamin D deficiency in ambulant children with epilepsy on monotherapy with CBZ or VPA.10.
Ramya Uppuluri Dhaarani Jayaraman Meena Sivasankaran Shivani Patel Venkateswaran Vellaichamy Swaminathan Lakshman Vaidhyanathan Sathishkumar Kandath Revathi Raj 《Indian pediatrics》2018,55(8):661-664
Objective
To share experience of over 15 years in hematopoietic stem cell transplantation in children with primary immunodeficiency disorders.Design
Medical record review.Setting
A referral center for pediatric hemato-oncological disorders.Participants
Children (<18 y) diagnosed to have primary immune deficiencies who underwent hematopoietic stem cell transplantation between 2002 and August 2017.Main outcome measures
Disease-free survival, morbidity and mortality.Results
85 primary immunodeficiency disorder transplants were performed with engraftment noted in 80 (94%) transplants and an overall survival of 67%. The conditioning regimen was individualized based on the underlying immune defect. Mixed chimerism was noted in 20% children with 56% (9/16) remaining disease-free. Graft versus host disease was noted in 33 (39.2%) children with most seen in children with chronic granulomatous disease. Severe combined immune deficiency transplants were mainly complicated by infections. Immune cytopenias complicated Wiskott Aldrich syndrome and Hemophagocytic lymphohistiocytosis transplants. 29.4% (25/85) children underwent haploidentical transplant in our cohort with a survival of 70% in this group. Infectious complications were the most common cause of death.Conclusion
Primary immunodeficiency disorders are curable in India when transplanted in centers with experienced and trained pediatric transplant physicians and intensivists.11.
Background
Tissue diagnosis of Childhood interstitial lung diseases is of paramount importance to outline management.Case characteristics
A 10-year-old boy with prolonged cough, and computed tomography of thorax with features suggestive of primary Langerhans’s cell histiocytosis.Intervention
Transbronchial cryobiopsy of lung using flexible cryoprobe, revealed a final diagnosis of Surfactant protein C/ABCA3 deficiency.Message
Transbronchial cryobiopsy of the lung can provide adequate lung tissue for a categorical diagnosis of interstitial lung diseases in children.12.
13.
AT Kaaviyaa Vidya Krishna TS Arunprasath Padmasani Venkat Ramanan 《Indian pediatrics》2018,55(11):969-971
Objective
To study the association between asthma control and serum 25OH Vitamin D levels in children with moderate persistent asthma on preventer therapy.Methods
Children aged 6–18 years, with moderate persistent asthma, on preventer therapy for ≥2 months were included. Control was categorized as good, partial or poor as per GINA guidelines. Serum 25 (OH) Vitamin D levels were measured and their relationship with the level of control was studied.Results
Out of 50 children enrolled, 22 had well-controlled asthma, and 21 had partially controlled asthma. Vitamin D was deficient in 30 children and insufficient in 18 children. Children with vitamin D deficiency had significantly less wellcontrolled asthma as compared to those with insufficient or sufficient levels of 25 (OH) vitamin D (13.3% vs 88.9 % vs 100%).Conclusion
Vitamin D deficiency is associated with suboptimal asthma control.14.
Ibrahim Kartal Ayhan Dagdemir Murat Elli Meltem Ceyhan Bilgici 《Indian pediatrics》2018,55(8):699-700
Background
Infantile choriocarcinoma is usually fatal without appropriate treatment.Case characteristics
A 3-month-old boy who presented with respiratory distress, hepatomegaly, amemia and bilateral nodular lesions on chest X-ray.Observation
Fine-needle liver aspiration revealed necrotic tumour cells. The serum β-hCG level was very high (2057 mIU/L), supporting a diagnosis of infantile choriocarcinoma of the liver. Surgical resection after cisplatin-based multiagent chemotherapy afforded successful remission.Message
Early treatment of infantile choriocarcinoma can yield a successful outcome.15.
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.16.
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.17.
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.18.
Background
Neuromelioidosis is a rare conduction, which is difficult to diagnose and treat.Case characteristics
Preadolescent girl presenting with prolonged fever, acute ascending paralysis and encephalopathy.Outcome
Neuromelioidiosis was confirmed on brain biopsy culture. Patient improved with an intensive antibiotic regimen.Message
Neuromelioidosis can mimic acute demyelinating encephalomyelitis clinically and radiologically.19.
Sankalp Dudeja Pooja Sikka Kajal Jain Vanita Suri Praveen Kumar 《Indian pediatrics》2018,55(9):761-764
Objective
To improve the rates of first hour initiation of breastfeeding in neonates born through cesarean section from 0 to 80% over 3 months through a quality improvement (QI) process.Design
Quality improvement study.Setting
Labor Room-Operation Theatre of a tertiary care hospital.Participants
Stable newborns ≥35 weeks of gestation born by cesarean section under spinal anesthesia.Procedure
A team of nurses, pediatricians, obstetricians and anesthetists analyzed possible reasons for delayed initiation of breastfeeding by Process flow mapping and Fish bone analysis. Various change ideas were tested through sequential Plan-Do- Study-Act (PDSA) cycles.Outcome measure
Proportion of eligible babies breast fed within 1 hour of delivery.Results
The rate of first-hour initiation of breastfeeding increased from 0% to 93% over the study period. The result was sustained even after the last PDSA cycle, without any additional resources.Conclusions
A QI approach was able to accomplish sustained improvement in first-hour breastfeeding rates in cesarean deliveries.20.