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Case 280.

Kin Fen Kevin Fung1, Yin Yee Kwong1, Wing Sze Mak1

  • 1From the Department of Diagnostic and Interventional Radiology, Kwong Wah Hospital, 25 Waterloo Road, Yau Ma Tei, Hong Kong (K.F.K.F., Y.Y.K., W.S.M.); and Department of Radiology, Hong Kong Children's Hospital, Hong Kong (Y.L.E.K.).

Radiology
|March 17, 2020
PubMed
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This summary is machine-generated.

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A previously healthy infant presented with hypotonia and developmental delay. Family history revealed early-onset deaths and neurological issues in siblings, suggesting a potential genetic neuromuscular disorder.

Area of Science:

  • Pediatric Neurology
  • Clinical Genetics
  • Developmental Pediatrics

Background:

  • An 8-month-old boy exhibited progressive truncal hypotonia and developmental delay.
  • The infant had an uncomplicated birth history.
  • Two older siblings experienced early-onset deaths (around 2-3 years) due to pneumonia, with one also having recurrent seizures and reduced muscle tone.

Purpose of the Study:

  • To investigate the underlying cause of progressive hypotonia and developmental delay in an infant.
  • To explore a potential inherited condition given the family history of early-onset mortality and neurological symptoms in siblings.

Main Methods:

  • Clinical evaluation of the infant for hypotonia and developmental milestones.
  • Detailed family history collection, focusing on sibling's health, cause of death, and neurological symptoms.

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  • Review of maternal and child health center referral information.

    • Main Results:

    • The infant's presentation of progressive truncal hypotonia and developmental delay.
    • Significant family history of early childhood mortality and neurological impairment in siblings, including seizures and reduced muscle tone.
    • The constellation of symptoms suggests a possible severe, likely genetic, neuromuscular or metabolic disorder.

    Conclusions:

    • The infant's symptoms and family history are highly concerning for a severe, undiagnosed genetic disorder.
    • Further investigation, including genetic testing and metabolic screening, is warranted to determine the etiology.
    • Early diagnosis is crucial for potential management and genetic counseling.