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Related Concept Videos

Cytomegalovirus Disease01:27

Cytomegalovirus Disease

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Cytomegalovirus (CMV) disease is caused by human cytomegalovirus, a double-stranded DNA virus of the Herpesviridae family. While primary CMV infection is often asymptomatic in immunocompetent individuals, the virus can cause severe disease in neonates and immunocompromised patients. CMV is the most common cause of congenital viral infection in the United States, and a major pathogen in solid organ and hematopoietic stem cell transplant recipients.CMV is transmitted via bodily fluids, sexual...
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[Neonatal mucolipidosis type II].

F Hmami1, A Oulmaati1, A Bouharrou1

  • 1Service de néonatologie et réanimation néonatale, CHU Hassan II, 30000 Fès, Maroc; Faculté de médecine et de pharmacie, université Sidi-Mohammed-Ben-Abdellah, 30000 Fès, Maroc.

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Summary

Mucolipidosis type II (ML II) is a severe genetic disorder causing facial and skeletal abnormalities. Early diagnosis is crucial for managing this rare condition affecting lysosomal enzyme targeting.

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Area of Science:

  • Genetics
  • Biochemistry
  • Pediatrics

Background:

  • Mucolipidosis type II (ML II) is an autosomal recessive lysosomal storage disorder.
  • It stems from a defect in targeting acid hydrolases to lysosomes, leading to substrate accumulation.
  • Clinical features include facial dysmorphia, gingival hypertrophy, and skeletal dysplasia.

Observation:

  • A severe neonatal ML II case presented with respiratory distress and chest deformity.
  • Key features included dysmorphic syndrome, gingival hypertrophy, and diffuse bone demineralization.
  • Secondary hyperparathyroidism with elevated PTH and ALP, but normal calcium and vitamin D, was noted.

Findings:

  • The neonatal presentation involved severe skeletal dysplasia and hyperparathyroidism.
  • Specific dysmorphic features and pronounced gingival hypertrophy are characteristic.
  • Biochemical markers like elevated parathyroid hormone and alkaline phosphatase aid diagnosis.

Implications:

  • Recognizing this constellation of anomalies aids in differential diagnosis of neonatal disorders.
  • Early identification of ML II is vital for timely and appropriate patient management.
  • Understanding the pathophysiology aids in developing targeted therapeutic strategies.