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Related Concept Videos

Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies01:22

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The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...
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Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...
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Restless Leg Syndrome and Night Terrors01:27

Restless Leg Syndrome and Night Terrors

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Restless Leg Syndrome (RLS), also known as Willis-Ekbom disease, is a neurological disorder characterized by an uncontrollable urge to move the legs due to uncomfortable sensations. These sensations typically occur during periods of rest or inactivity, particularly when lying down or sitting, and can severely disrupt sleep.
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REM Sleep Behavior Disorder01:15

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REM Sleep Behavior Disorder (RBD) is a sleep disorder characterized by the absence of muscle paralysis that normally occurs during the REM phase of sleep. This absence allows individuals to physically act out their dreams, which are often vivid and disturbing. Common behaviors exhibited during episodes include kicking, punching, and yelling. These actions can be dangerous, potentially leading to injuries for the person with RBD or their bed partner.
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AssessmentA comprehensive assessment is essential in managing a patient with rheumatic heart disease (RHD). Begin with obtaining a detailed medical history, including recent streptococcal infections, a history of rheumatic fever, or previously diagnosed rheumatic heart disease. Assess the patient for symptoms such as fever, chest pain, widespread joint pain (arthralgia), tachycardia, pericardial friction rub, muffled heart sounds, heart murmurs, peripheral edema, subcutaneous nodules, and...
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Vasogenic edema is a major form of cerebral edema characterized by abnormal accumulation of fluid in the brain’s extracellular space due to disruption of the blood–brain barrier (BBB). The BBB is a specialized structure composed of endothelial cells connected by tight junctions, supported by astrocytic endfeet and a basement membrane. Under normal conditions, it tightly regulates the movement of ions, proteins, and solutes between the bloodstream and brain parenchyma. When this...
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Related Experiment Video

Updated: Apr 27, 2026

The Rodent Model of Nonarteritic Anterior Ischemic Optic Neuropathy rNAION
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Raine syndrome.

B Vishwanath1, K Srinivasa1, M Veera Shankar1

  • 1Department of Pediatrics, Vijayanagar Institute of Medical Sciences, Cantonment, Bellary, Karnataka, India.

Indian Journal of Human Genetics
|June 25, 2014
PubMed
Summary

Raine syndrome, a rare genetic disorder, presents with severe craniofacial abnormalities. This report details a rare case of a 7-week-old infant surviving this typically lethal condition.

Area of Science:

  • Genetics
  • Pediatrics
  • Medical Case Reports

Background:

  • Raine syndrome is an extremely rare autosomal recessive genetic disorder.
  • It is characterized by a constellation of severe congenital anomalies, including exophthalmos, choanal atresia/stenosis, osteosclerosis, and cerebral calcifications.
  • The condition is typically lethal, with most affected infants succumbing shortly after birth.

Observation:

  • This report focuses on a neonate diagnosed with Raine syndrome.
  • The infant presented at 7 weeks of age, a significant deviation from the typical neonatal mortality associated with this disorder.
  • Detailed clinical observations and diagnostic findings for this unique case are presented.

Findings:

  • The infant survived beyond the neonatal period, challenging the established prognosis of Raine syndrome.
Keywords:
LethalRaine syndromeosteosclerosis

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  • Specific phenotypic manifestations and the management strategies employed are discussed.
  • Genetic analysis and imaging results are detailed to further characterize this rare presentation.

    • Implications:

    • This case expands the known clinical spectrum and survival potential for Raine syndrome.
    • It highlights the importance of comprehensive genetic and clinical evaluation in rare pediatric disorders.
    • Further research into the genetic and molecular underpinnings of Raine syndrome may reveal novel therapeutic targets or management approaches.