Morbid obesity in a child with monosomy 1p36 syndrome.

Abstract

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.

• Authors: Ana Zagalo, Patricia Dias, Carla Pereira, Maria de Lurdes Sampaio
• Journal: BMJ case reports (BMJ Case Rep) Vol. 2012 (Mar 20 2012) ISSN: 1757-790X [Electronic] England
• PMID: 22605691 (Publication Type: Case Reports, Journal Article)

Topics

• Child
• Chromosome Deletion
• Chromosome Disorders (diagnosis, drug therapy)
• Chromosomes, Human, Pair 1
• Diagnosis, Differential
• Drug Therapy, Combination
• Humans
• Male
• Obesity, Morbid (genetics)