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Related Concept Videos

Data Reporting and Recording01:24

Data Reporting and Recording

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Reporting and recording are crucial in data documentation. The timely, thorough, and accurate documentation of facts is essential when recording patient data. Failure to record findings during an assessment or interpretation of a problem will result in loss of information and make the patient document unreliable. The reader is left with general impressions if the information is not specific. A recording is documenting data of the individual's health information in a traceable, secure, and...
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Types of Reports I: Hands-off Report01:25

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Types of Reports II: Incident or Occurrence Report01:21

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An Incident or Occurrence Report in a healthcare setting is a crucial document used to record any unexpected occurrence that may or may not have affected a patient, employee, or visitor. Such reports are critical to improving patient safety and include all details leading up to and including the event.
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Electrochemotherapy of Tumours
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THE MULBERRY TUMOUR (A Case Report).

S S Mann1, M Deshpande2, N Kapoor1

  • 1Trainee, Dept of Ophthalmology, AFMC, Pune 411 040.

Medical Journal, Armed Forces India
|December 5, 2018
PubMed
Summary
This summary is machine-generated.

This case report highlights tuberous sclerosis in a 10-year-old boy presenting with adenoma sebaceum, intellectual disability, and epilepsy. Early diagnosis of this rare genetic disorder can be aided by fundus examination.

Keywords:
Mulberry tumourPhakomataTuberous sclerosis

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Area of Science:

  • Neuroscience
  • Medical Genetics
  • Ophthalmology

Background:

  • Tuberous sclerosis is a rare genetic disorder affecting multiple organs, including the brain, skin, and eyes.
  • Classical presentation involves a triad of adenoma sebaceum, intellectual disability, and epilepsy.
  • Early diagnosis is crucial for timely management and improved patient outcomes.

Observation:

  • A 10-year-old boy with tuberous sclerosis presented with the classical triad.
  • Fundus examination revealed a characteristic "mulberry" tumor.
  • Computed tomography (CT) scan identified multiple intracranial calcifications, referred to as "brain stones".

Findings:

  • The case illustrates the diagnostic utility of fundus examination in identifying ocular manifestations of tuberous sclerosis.
  • Integration of dermatological, neurological, and ophthalmological findings aids in comprehensive diagnosis.
  • Radiological evidence of intracranial calcifications supports the diagnosis.

Implications:

  • Ophthalmological assessment, specifically fundus examination, can serve as a valuable, non-invasive tool for early tuberous sclerosis diagnosis.
  • Prompt diagnosis facilitates timely intervention and management strategies for associated neurological and developmental complications.
  • This case underscores the importance of a multidisciplinary approach in diagnosing complex genetic syndromes.