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PP-023 Prader Willi, a syndrome with different spectrums
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  1. Özgül Gizem Dikencik Cüceloğlu1,
  2. Elif Keleştemur2,
  3. Didem Helvacıoğlu2,
  4. Serap Demircioğlu2
  1. 1Marmara University, Faculty of Medicine, Department of Pediatrics
  2. 2Marmara University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology

Abstract

Aim Prader-Willi syndrome (PWS) is a rare genetic disorder resulting from loss of imprinted gene expression on the paternal chromosome 15q11-q13. It is characterised by severe hypotonia, poor appetite, endocrine abnormalities, feeding difficulties in early infancy, followed by excessive eating in early childhood and the gradual development of morbid obesity. An early team approach to patient management allows for improved quality of care and a better quality of life for these individuals.(1).

Material and Method Here we will describe 2 cases of Prader Willi syndrome that were diagnosed at different ages.

Results Case 1: A female baby born by vaginal delivery at the gestational age of 36 weeks was admitted to the neonatal intensive care unit (NICU) for her feeding difficulties. She had intrauterine growth retard, had no prenatal risk factors. Her parents had no known illnesses and no consanguinity. During her stay at the NICU, she was observed to be hypotonic and needed to be fed by an orogastric tube. She was initially tested for metabolic syndromes and spinal muscular atrophy to explore the hypotonicity but were both negative. Another possible diagnosis was PWS, so she was tested genetically via FISH and the microdeletion del(15)(q11.2 q11.2) was shown on Prader-Willi/Angelman locus, thus she was diagnosed. Case 2: A 9-year-old overweight boy with learning difficulties was admitted to our clinic. His history of hospital admissions began as a newborn with hypotonia. From early childhood, he had repeated neurological and psychiatric admissions for delayed mental and motor skills and temperament. He was also treated for hypothyroidism. He was diagnosed with PWS at the age of 9 after being tested for other conditions due to a history of hypotonia and developmental delay.

Conclusions Prader Willi Syndrome is a rare disease that may present with a wide spectrum of symptoms. Early suspicion of the disease is crucial for future quality of life.

  • Prader Willi Syndrome
  • Obesity
  • Hypotony

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