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Reminder of important clinical lesson
Morbid obesity in a child with monosomy 1p36 syndrome
  1. Ana Zagalo1,
  2. Patricia Dias2,
  3. Carla Pereira3,
  4. Maria de Lurdes Sampaio3
  1. 1Pediatric Department, Hospital de Santo André, Centro Hospitalar Leiria Pombal, Portugal
  2. 2Genetics Department, Hospital de Santa Maria, Lisboa, Portugal
  3. 3Pediatric Endocrinology Department, Hospital Santa Maria, Lisboa, Portugal
  1. Correspondence to Dr Ana Zagalo, ana_zagalo{at}yahoo.co.uk

Summary

The monosomy 1p36 syndrome is a cause of syndromic obesity. It is characterised by psychomotor delay, hypotonia and typical craniofacial dysmorphism. Other features commonly associated are behavioural anomalies including hyperphagia and self-injuring, seizures, congenital heart disease and hypothyroidism. The authors report the case of a 9-year and 5-month-boy referred to the paediatric endocrinology clinics for morbid obesity. Clinical findings were generalised obesity with a body mass index >95th centile, acanthosis nigricans of the neck, arms with self inflicted lesions, deep-set eyes, straight eyebrows, broad nasal bridge and pointed chin. He was unable to walk and had no expressive language. Cytogenetic analysis identified 1p36.33-pter deletion (~139 Mb terminal deletion in chromosome 1 short arm) and Y chromosome duplication. The blood analysis showed insulin resistance and dyslipidaemia. The authors emphasise the need to consider monosomy 1p36 as a cause of severe psychomotor delay and obesity.

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Footnotes

  • Competing interests None.

  • Patient consent Obtained.

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