Chediak-Higashi Syndrome (CHS):Unforgettable mnemonics 23

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 […]

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Wiskott Aldrich Syndrome (WAS): Unforgettable Mnemonics 2023

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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METABOLIC DISORDERS MADE SIMPLE AND EASY 2023

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

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Piracetam in severe breath holding spells?2024

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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Approach to a Child with an IEM -Quick review 2023

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,

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Treacher-Collins Syndrome (TCS)

Treacher-Collins Syndrome (TCS): Quick overview 2023

 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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Hirschsprung Disease: Quick review 2023

Hirschsprung Disease Quick overview Megacolon: Causes, Symptoms, Diagnosis, and Treatment Megacolon is an abnormal dilation of the colon that is not caused by mechanical obstruction. It can be congenital or acquired.  In this article, we will discuss the causes, symptoms, diagnosis, and treatment of megacolon. Causes of Megacolon: 1. Congenital megacolon: Hirschsprung disease is the

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Best Facts About Benign Rolandic Seizure 2023

Benign Rolandic  Seizure- Symptoms diagnosis and treatment  Rolandic seizures, also known as benign epilepsy of childhood with centrotemporal spikes or benign rolandic epilepsy, are a type of seizure disorder that typically affects children between the ages of 3 and 13 years old. Clinical symptoms  These seizures are characterized by brief, involuntary muscle movements or twitching,

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myth and facts of Lactose intolerance 2023

What is Lactose Intolerance and How Does it Develop? Definition:  The inability to digest and absorb lactose (the sugar in milk) causes gastrointestinal symptoms when milk or products containing milk are consumed. Types:  It may be primary or secondary: Primary– It is characterized by congenital absence of lactase enzyme due to a mutation in the gene

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