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Morbid obesity in a child with monosomy 1p36 syndrome

Ana Zagalo1, Patricia Dias, Carla Pereira

  • 1Pediatric Department, Hospital de Santo André, Centro Hospitalar Leiria Pombal, Portugal. ana_zagalo@yahoo.co.uk

BMJ Case Reports
|May 19, 2012
PubMed

Insights

Monosomy 1p36 syndrome, a genetic disorder, can cause severe psychomotor delay and syndromic obesity. Early recognition is crucial for managing associated health issues like insulin resistance.

Area of Science:

  • Genetics
  • Pediatrics
  • Endocrinology

Background:

  • Monosomy 1p36 syndrome is a known cause of syndromic obesity.
  • It presents with psychomotor delay, hypotonia, and characteristic craniofacial features.
  • Associated conditions include behavioral issues, seizures, heart defects, and hypothyroidism.

Observation:

  • A 9-year-old boy presented with morbid obesity, acanthosis nigricans, and self-inflicted lesions.
  • He exhibited severe psychomotor delay, inability to walk, and lack of expressive language.
  • Distinctive facial features included deep-set eyes, straight eyebrows, a broad nasal bridge, and a pointed chin.

Findings:

  • Cytogenetic analysis revealed a terminal deletion on chromosome 1p36.33-pter and Y chromosome duplication.
  • Blood tests indicated insulin resistance and dyslipidemia.
  • The patient had generalized obesity with a BMI above the 95th percentile.

Implications:

  • This case highlights the importance of considering monosomy 1p36 in children with unexplained severe psychomotor delay and obesity.
  • Early diagnosis facilitates timely management of metabolic complications like insulin resistance and dyslipidemia.
  • Further research into the phenotypic spectrum and management strategies for monosomy 1p36 is warranted.

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