G N Sanjeeva1, Madhuri Maganthi2, Himabindu Kodishala3, Rohit Kumar R Marol2, Pooja S Kulshreshtha4, Elisa Lorenzetto5, Jayarama S Kadandale4, Uros Hladnik5, P Raghupathy3, Meenakshi Bhat2,6. 1. Department of Pediatric Genetics, Indira Gandhi Institute of Child Health, South Hospital Complex, Dharmaram College Post, Bangalore, Karnataka, 560 029, India. sanju_gn@rediffmail.com. 2. Department of Pediatric Genetics, Indira Gandhi Institute of Child Health, South Hospital Complex, Dharmaram College Post, Bangalore, Karnataka, 560 029, India. 3. Department of Pediatric and Adolescent Endocrinology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India. 4. Department of Molecular Cytogeneticis, Centre for Human Genetics, Bangalore, Karnataka, India. 5. "Mauro Baschirotto" Institute for Rare Diseases, B.I.R.D. Foundation, Vicenza, Italy. 6. Department of Clinical Genetics, Centre for Human Genetics, Bangalore, Karnataka, India.
Abstract
OBJECTIVES: To describe the clinical presentations and molecular diagnosis to aid the clinicians in early diagnosis and appropriate management of Prader-Willi syndrome (PWS). METHODS: Thirty-four clinically diagnosed PWS cases were enrolled after obtaining informed consent/assent. Demographic details, clinical data and anthropometry were recorded using structured proforma. The facial dysmorphology was evaluated. Appropriate genetic testing was performed to confirm the diagnosis. RESULTS: At diagnosis, the most common clinical features included obesity (59%) and short stature (53%). Distinct dysmorphic features were observed in 67%. Neonatal hypotonia with feeding difficulty, delayed development in infancy and childhood behavioral problems were reported in 94%, 94% and 74% respectively. Food seeking behavior and hyperphagia was reported in 67%. Seizures were reported in 47%. All children had underdeveloped external genitalia. Growth hormone (GH) deficiency and impaired glucose tolerance were found in 56% and 50% respectively. Sleep related problems were seen in 67%. Skin and rectal picking were reported in 67%. FISH confirmed micro-deletion was found in 64.7% and abnormal methylation in 35%, of which uniparental disomy was confirmed in 14.7%. CONCLUSIONS: Clinical suspicion is vital for early detection of PWS. Confirmation of the diagnosis requires complex multi-tier molecular genetic testing.
OBJECTIVES: To describe the clinical presentations and molecular diagnosis to aid the clinicians in early diagnosis and appropriate management of Prader-Willi syndrome (PWS). METHODS: Thirty-four clinically diagnosed PWS cases were enrolled after obtaining informed consent/assent. Demographic details, clinical data and anthropometry were recorded using structured proforma. The facial dysmorphology was evaluated. Appropriate genetic testing was performed to confirm the diagnosis. RESULTS: At diagnosis, the most common clinical features included obesity (59%) and short stature (53%). Distinct dysmorphic features were observed in 67%. Neonatal hypotonia with feeding difficulty, delayed development in infancy and childhood behavioral problems were reported in 94%, 94% and 74% respectively. Food seeking behavior and hyperphagia was reported in 67%. Seizures were reported in 47%. All children had underdeveloped external genitalia. Growth hormone (GH) deficiency and impaired glucose tolerance were found in 56% and 50% respectively. Sleep related problems were seen in 67%. Skin and rectal picking were reported in 67%. FISH confirmed micro-deletion was found in 64.7% and abnormal methylation in 35%, of which uniparental disomy was confirmed in 14.7%. CONCLUSIONS: Clinical suspicion is vital for early detection of PWS. Confirmation of the diagnosis requires complex multi-tier molecular genetic testing.
Authors: David E Cummings; Karine Clement; Jonathan Q Purnell; Christian Vaisse; Karen E Foster; R Scott Frayo; Michael W Schwartz; Arnaud Basdevant; David S Weigle Journal: Nat Med Date: 2002-07 Impact factor: 53.440
Authors: Krystal A Irizarry; James Bain; Merlin G Butler; Olga Ilkayeva; Michael Muehlbauer; Andrea M Haqq; Michael Freemark Journal: Clin Endocrinol (Oxf) Date: 2015-04-01 Impact factor: 3.478
Authors: Guo-Qing Dong; Yue-Yue Su; Xiao-Ying Qiu; Xi-Yan Lu; Jian-Xu Li; Miao Huang; Xiao-Ping Luo Journal: Zhongguo Dang Dai Er Ke Za Zhi Date: 2020-09