| A 68-year-old white female with prader-willi syndrome is described. The clinical features are described and the progression of her condition is discussed and illustrated. ( info) |
12/293. Interstitial 6q deletion with a Prader-Willi-like phenotype: a new case and review of the literature. We report on an additional fourth case of Prader-Willi (PW)-like phenotype and an interstitial deletion of 6q. Despite sharing clinical characteristics, patients with a PW-like phenotype and a deletion of 6q, have features which distinguish them from prader-willi syndrome (PWS) patients. This case emphasizes the need to examine patients with suspected PWS, but who are negative for recognizable deletions of 15q11-q13 or uniparental maternal disomy of chromosome 15, for a deletion of 6q. ( info) |
| This study focused in the treatment of two major Prader-Willi symptoms: hyperphagia and self-injurious behavior (SIB). Four patients participated in a four-year study with monthly follow-ups. patients lived in a behaviorally structured environment, and were treated with selective serotonin reuptake blockers and phenothiazines. Psychopharmacological intervention improved SIB symptoms, but was ineffective to control appetite satiation. ( info) |
14/293. Focal segmental glomerulosclerosis in a patient with prader-willi syndrome. The authors describe a girl with prader-willi syndrome associated with focal segmental glomerulosclerosis. Severe obesity and unilateral renal agenesis, taken together, may have played an important role in the development of her specific renal disease. ( info) |
| BACKGROUND: prader-willi syndrome (PWS) is the most common genetic obesity. Excessive weight gain follows failure-to-thrive in early infancy; in adolescents and young adults, excess body weight can exceed 100%. The hyperphagia associated with PWS is responsible for the early mortality. Dietary restriction, alone or combined with anorexic drugs, are ineffective to induce a permanent weight loss. Thus, surgical treatment of morbid obesity in PWS has been attempted, but gastric restrictive operations are unable to produce stable weight loss. In a small number of patients, favorable results have been reported with biliopancreatic diversion (BPD). CASE REPORT: A 24-year-old woman with PWS, Pickwickian, at age 21 weighed 80 kg (BMI= 50) and underwent BPD. RESULTS: 3 years after the BPD she regained 21 of the 26 kg lost; somnolence and respiratory difficulties were the same as before surgery. The patient now presents severe reduction of bone mass density, hypochromic anemia, hypoproteinemia, and diarrhea associated with eating. CONCLUSION: The regain of weight following BPD suggests that this procedure alone is not adequate for long-term control of obesity in PWS. ( info) |
16/293. Submicroscopic deletion in cousins with prader-willi syndrome causes a grandmatrilineal inheritance pattern: effects of imprinting. The prader-willi syndrome (PWS) critical region on 15q11-q13 is subject to imprinting. PWS becomes apparent when genes on the paternally inherited chromosome are not expressed. Familial PWS is rare. We report on a family in which a male and a female paternal first cousin both have PWS with cytogenetically normal karyotypes. fluorescence in situ hybridization (FISH) analysis shows a submicroscopic deletion of SNRPN, but not the closely associated loci D15S10, D15S11, D15S63, and GABRB3. The cousins' fathers and two paternal aunts have the same deletion and are clinically normal. The grandmother of the cousins is deceased and not available for study, and their grandfather is not deleted for SNRPN. dna methylation analysis of D15S63 is consistent with an abnormality of the imprinting center associated with PWS. "Grandmatrilineal" inheritance occurs when a woman with deletion of an imprinted, paternally expressed gene is at risk of having affected grandchildren through her sons. In this case, PWS does not become evident as long as the deletion is passed through the matrilineal line. This represents a unique inheritance pattern due to imprinting. ( info) |
| We report on a boy with mosaicism for trisomy 15 and prader-willi syndrome (PWS) due to maternal isodisomy for chromosome 15. His phenotype is consistent with PWS and trisomy 15 mosaicism. Although our patient is unusual in having maternal isodisomy rather than the more common maternal heterodisomy, we think that his more severe PWS phenotype is due to his trisomy 15 mosaicism rather than to homozygosity for deleterious chromosome 15 genes. We propose that individuals with PWS have one of three similar but distinctive phenotypes depending on the cause of their condition. patients with paternal deletions have the typical PWS phenotype, patients with maternal UPD have a slightly milder phenotype with better cognitive function, and those with maternal UPD and mosaic trisomy 15 have the most severe phenotype with a high incidence of congenital heart disease. These phenotype-genotype differences are useful to guide the work-up of patients with suspected PWS and to provide prognostic counseling for families. ( info) |
18/293. A fetus with prader-willi syndrome showing normal diurnal rhythm and abnormal ultradian rhythm on heart rate monitoring. Clinical features of prader-willi syndrome in neonates are marked hypotonia with the absence of crying and feeding difficulty so that prenatal diagnosis of prader-willi syndrome is strongly hoped in order to provide appropriate medical and psychological care for neonates and their families. However, the clinical picture of prader-willi syndrome in utero has not been well described. We report a pregnancy associated with prader-willi syndrome manifesting polyhydramnios, large biparietal diameter of the fetus and characteristic fetal heart rate pattern: prolonged inactive periods and diurnal variation of the incidence of heart rate accelerations. These findings may offer a clue to the prenatal diagnosis of prader-willi syndrome, although molecular cytogenetics is mandatory for the definite diagnosis. ( info) |
19/293. Prader-Willi psychiatric syndrome and Velo-Cardio-Facial psychiatric syndrome. Prader-Willi psychiatric syndrome and Velo-Cardio-Facial psychiatric syndrome: Similar to the studies on behavioural phenotypes, it is suggested to more rigorously promote the investigation of psychopathological phenotypes. The psychopathological profile in patients with prader-willi syndrome (PWS) or Velo-Cardio-Facial Syndrome (VCFS) appears to be not classifiable within the current nosological systems. On a descriptive level, PWS-psychotic states show similarities with the cycloid psychoses, but VCFS psychosis does not. It is therefore advocated to adopt the notion of a brain-structure phenotype as well as that of a syndrome-specific psychiatric disorder. ( info) |
| prader-willi syndrome (PWS) is a neurobehavioural disorder arising through a number of different genetic mechanisms. All involve loss of paternal gene expression from chromosome 15q11q13. Although the majority of cases of PWS are sporadic, precise elucidation of the causative genetic mechanism is essential for accurate genetic counselling as the recurrence risk varies according to the mechanism involved. A pair of siblings affected by PWS is described. Neither demonstrates a microscopically visible deletion in 15q11q13 or maternal disomy. Methylation studies at D15S63 and at the SNRPN locus confirm the diagnosis of PWS. Molecular studies reveal biparental inheritance in both siblings with the exception of D15S128 and D15S63 where no paternal contribution is present indicating a deletion of the imprinting centre. family studies indicate that the father of the siblings carries the deletion which, he has inherited from his mother. The recurrence risk for PWS in his offspring is 50%. ( info) |