Penile agenesis or aphallia means an absence of formation of the penis. It is a rare condition occurring in 1 in 30 million births and results from a development failure of the genital tubercle during the fourth week of embryogenesis. The genital tubercle is the embryonic progenitor mesenchymal tissue forming penis in man and clitoris […]
Child Health
Acrodynia or Pink Disease Symptoms and Treatment
Acrodynia is a condition that primarily affects young children and is characterized by pink discoloration of the hands and feet, irritability, photophobia (sensitivity to light) and polyneuritis (inflamed nerves). The symptoms are often caused by chronic mercury exposure. Acrodynia was common in the past when the use of mercury-containing preparations was common. It is rarely […]
Umbilical Artery Catheter – Indications and Procedure
Umbilical artery catheter insertion is a common procedure used in intensive care of neonates. It is considered the standard of care for arterial access in neonates. The umbilical artery can be used for arterial access during the first 5-7 days of life [rarely beyond 7-10 days.] It allows direct access to the arterial blood supply […]
NICE Guidelines for Fever in Children
In 2007 British journal of clinical practice published NICE guidelines on fever. It contains practical advice on fever care. Here is the set of guidelines Use of Antipyretic Agents These guidelines recommend agains use of antipyretic agents routinely with the sole aim of reducing body temperature in children with fever who are otherwise well. So […]
Hemolytic Disease of Newborn
Hemolytic disease of newborn an condition that develops in a fetus, when the maternal antibodies pass through the placenta and attack antigens on the red blood cells in the fetal circulation, breaking down and destroying the cells. The condition of fetus could be from mild to very severe, and fetal death from heart failure (hydrops […]
Twin to Twin Transfusion Syndrome
Twin to twin transfusion syndrome is a condition in which intrauterine blood transfusion occurs from one twin to other, resulting in anemic donor twin and plethoric recipient with hemoglobin differences greater than 5 g/dL. The donor twin is often smaller with a birth weight 20% less than the recipient’s birth weight. Twin to twin transfusion […]
Hunter Syndrome – Features and Treatment
What is Hunter Syndrome? Hunter syndrome is a type of mucopolysaccharidosis. Hunter syndrome is also called mucopolysaccharidosis II (MPS II). It is a lysosomal storage disease caused by a deficient (or absent) enzyme, iduronate-2-sulfatase. This deficiency results in accumulation of heparan sulfate and dermatan sulfate. Disease Transmission It is a sex linked condition, therefore the male inherits the disease from […]
Morquio Syndrome or Mucopolysaccharidosis IV
What is Morquio Syndrome? Morquio syndrome is a familial variety of osseous dystrophy involving bones developed from cartilage that result in dwarfism, spine deformity and joint deformities with typical radiological changes in the vertebral bodies and limb bones but without the hepatosplenomegaly and mental deterioration seen in Hurler’s syndrome and without early corneal changes. Inheritance […]
Hurler Syndrome
Hurler Syndrome is a type of mucopolysaccharidosis. Hurler syndrome is also called Gargoylism or Mucopolysaccharidosis I-H. This condition was first described by Hurler. It was given name of Gargoylism by Ellis, Shelton and Capon since the condition is characterized by dwarfism with a heavy ugly facial appearance, corneal 0pacities, mental deficiency and enlargement of the […]
Diamond Blackfan Anemia or Diamond Blackfan Syndrome
What is Diamond Blackfan Anemia? Diamond Blackfan anemia is a rare blood disorder in which the affected child cannot make enough red blood cells leading to congenital hypoplstic anemia. Leucoyte and platelet counts are normal or slightly reduced. Blood cells are manufactured in the bone marrow and in children with Diamond Blackfan anemia, many of […]