Lesch-Nyhan Disease Lesch-Nyhan Disease, generally known as Lesch- Nyhan Syndrome or simply Lesch- Nyhan, is a rare and severe inheritable disorder that affects the central nervous system. Named after the American pediatrician Michael Lesch and his British coworker William Nyhan, the disease is characterized by a deficiency of the enzyme hypoxanthine- guanine phosphoribosyltransferase( HGPRT). This […]
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Bruton Agammaglobulinemia Bruton Agammaglobulinemia is a rare primary immunodeficiency disorder characterized by the absence or very low concentration of immunoglobulins (IgG, IgA, IgM, IgE). This condition primarily affects males and is caused by mutations in the Bruton Tyrosine Kinase (BTK) gene, leading to impaired B cell maturation and function. In this article, we will delve
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Common Variable Immunodeficiency (CVID) Common Variable Immunodeficiency (CVID) is a primary immunodeficiency disorder characterized by impaired B-cell function, resulting in reduced antibody production and increased susceptibility to infections. It is a complex condition with a wide range of clinical presentations and requires a comprehensive understanding for early diagnosis and effective management. In this article, we
Chediak-Higashi Syndrome (CHS) Chediak-Higashi Syndrome (CHS) is a rare and complex autosomal recessive genetic disorder that affects various aspects of an individual’s health. It is characterized by a multitude of symptoms, making it important to understand the alphabet of CHS to recognize its clinical manifestations and ensure timely diagnosis and management. Let’s explore each letter
Chediak-Higashi Syndrome (CHS):Unforgettable mnemonics 23 Read More »
Wiskott Aldrich Syndrome( WAS) Wiskott Aldrich Syndrome( WAS) is a rare X-linked primary immunodeficiency .WAS is caused by mutations in the WASP gene, which plays a pivotal part in the conformation of the cytoskeleton in vulnerable cells. Mnemonic “ WIX ALDRICH ” W – WASP Gene The WASP gene, located on the X chromosome, encodes
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DIFFERENT METABOLIC DISORDER WITH MNEMONICS Von-Gierke’s disease (type-1 glycogenosis characterized by recurrent hypoglycemia attacks with hepatomegaly, and the hypoglycemia does not respond to epinephrine or glucagon. Pompe’s disease (type-II glycogenosis) characterized by coarse facies, hepatosplenomegaly, and a tall QRS complex, but it is not a liver glycogenosis. Mnemonics: ABCDEF A- Autosomal recessive B- Biopsy
METABOLIC DISORDERS MADE SIMPLE AND EASY 2023 Read More »
Is there any role of piracetam in severe breath holding spells? What is dose of piracetam? It is a nootropic drug that is known to improve cognitive function, memory, and learning. However, there is limited evidence to support its use in the treatment of severe breath-holding spells. In children, breath-holding periods are typically a benign
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WHEN DO YOU SUSPECT AN INBORN ERROR OF METABOLISM(IEM)? If a patient presents with unexplained acute deterioration of their sensorium and clinical status, it is important to suspect an inborn error of metabolism, particularly a small molecule disorder. Small molecule disorders can occur early in life and can present with symptoms such as poor feeding,
Approach to a Child with an IEM -Quick review 2023 Read More »
Treacher-Collins Syndrome (TCS) A hereditary condition called Treacher-Collins Syndrome (TCS) impairs the growth of the bones and other tissues of the face, giving rise to unusual facial traits. People with TCS frequently have undeveloped cheekbones, which can give the appearance that their faces are sunken. The ears of those with TCS may be tiny, malformed,
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Turner Syndrome: Causes, Symptoms, Diagnosis, and Treatment Itis a genetic disorder that affects females. It occurs when one of the two X chromosomes is partially or completely missing. Instead of having the usual 46 chromosomes, women with Turner Syndrome have only 45 chromosomes, with only one X chromosome instead of two. The syndrome is named
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