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1.
Rev. Soc. Bras. Med. Trop ; 49(5): 656-659, Sept.-Oct. 2016. tab, graf
Article Dans Anglais | LILACS | ID: lil-798125

Résumé

Abstract Dengue infection can have spectrum of manifestations, often with an unpredictable clinical progression and outcome. There have been increasing reports of atypical manifestations. Abdominal pain or tenderness and persistent vomiting (warning signs) are present in the majority of cases with severe dengue prior to clinical deterioration. We report a 10-year-old child who presented with fever, persistent vomiting, and abdominal pain. A diagnosis of acute pancreatitis was made. This is a very infrequently reported complication of dengue hemorrhagic fever.


Sujets)
Humains , Femelle , Enfant , Pancréatite/étiologie , Dengue sévère/complications , Pancréatite/diagnostic , Maladie aigüe , Dengue sévère/diagnostic
2.
Indian J Hum Genet ; 2013 July-Sept ;19 (3): 363-365
Article Dans Anglais | IMSEAR | ID: sea-156595

Résumé

Congenital hypoparathyroidism, growth retardation and facial dysmorphism is a rare autosomal recessive disorder seen among children born to consanguineous couple of Arab ethnicity. This syndrome is commonly known as Sanjad- Sakati or hypoparathyroidism‑retardation‑dysmorphism syndrome (HRD). We report 13‑year‑old Hindu boy with hypoparathyroidism, tetany, facial dysmorphism and developmental delay, compatible with HRD syndrome.


Sujets)
Malformations multiples/épidémiologie , Malformations multiples/génétique , Adolescent , Adulte , Consanguinité , Femelle , Troubles de la croissance/épidémiologie , Troubles de la croissance/génétique , Humains , Mâle , Hypoparathyroïdie/épidémiologie , Hypoparathyroïdie/génétique , Déficience intellectuelle/épidémiologie , Déficience intellectuelle/génétique , Adulte d'âge moyen , Ostéochondrodysplasies/épidémiologie , Ostéochondrodysplasies/génétique , Parents , Crises épileptiques/épidémiologie , Crises épileptiques/génétique
3.
Indian J Hum Genet ; 2013 Jan; 19(1): 90-92
Article Dans Anglais | IMSEAR | ID: sea-147643

Résumé

Osteopetrosis, a rare congenital genetic disease characterized by increased bone density due to impaired bone resorption by osteoclasts. It is classified into three forms: Infantile malignant autosomal recessive (AR) osteopetrosis, intermediate (AR) osteopetrosis and autosomal dominant (AD) osteopetrosis. Incidence of infantile malignant AR is 1/2,00,000 and if untreated has a fatal outcome. The condition is commonly diagnosed in infancy with symptoms of significant hematologic abnormalities with bone marrow failure, hepatosplenomegaly, macrocephaly with frontal bossing and bone fractures. Because of rarity of this type of malignant infantile form of osteopretrosis, we like to report this case of malignant infantile osteopetrosis who presented with bronchopneumonia, anemia with melaena at 2 months 15 days of age.


Sujets)
Issue fatale , Hépatomégalie/épidémiologie , Humains , Nourrisson , Ostéopétrose/congénital , Ostéopétrose/épidémiologie , Ostéopétrose/génétique , Ostéopétrose/mortalité
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