Użytkownik "kejti" <m...@w...pl> napisał w wiadomości
news:9o1nra$fk8$1@news.tpi.pl...
> Moja ostatnia bardzo wazna wiadomosc nawet nie zostala zauwazona, a dla
mnie
> to naprawde bardzo wazne!
> Blagam, podajcie mi jak najwiecej informacji na temat choroby, na ktora
> cierpi 40 niemowlat na calym swiecie, w tym moj maly kuzynek... To zespol
> Beckwitha i Wiedemana.
> Przede wszystkim chodzi mi o miejsce na swiecie gdzie mozna to leczyc.
> Jakiekolwiek linki-prosze! Ja nic nie moge znalezc!
> Pozdrawiam
> kejti
>
>

To są linki o które prosiłaś a na początek cytat z jedego z nich

///// Beckwith Wiedemann Syndrome
Beckwith-Wiedemann syndrome (BWS) is a common genetic overgrowth syndrome
that is associated with visceromegaly, macroglossia, abdominal wall defects,
pre- and postnatal overgrowth, and neonatal hypoglycemia. Exomphalos,
macroglossia, and gigantism, are considered the characteristic diagnostic
triad of findings; due to this it is also known as EMG-syndrome. Other
distinctive features include earlobe creases and pits, facial nevus
flammeus, and prominent eyes with infraorbital creases. Recognition of BWS
is important because of the associated risk for development of embryonal
neoplasms affecting abdominal organs, the need for prompt treatment of
neonatal hypoglycemia, and for purposes of genetic counseling. The primary
care physician can provide a major source of support for the family. It is
important to emphasize that most infants with BWS grow up to become
relatively normal adults.

GENETICS AND ETIOLOGY

Although most cases appear to be sporadic (85%), the etiology of BWS is
generally accepted as genetic. Since the clinical findings vary widely and
tend to become less obvious with age, the syndrome may be overlooked in
adults, thus tending to mask familial inheritance among some previously
reported cases. Present evidence supports autosomal dominant inheritance of
BWS, with reduced penetrance and variable expressivity that may relate to
the effects of genomic imprinting. (Imprinting is defined as the
differential expression of genetic material, at either a chromosomal or an
allelic level, depending on whether the genetic material has been inherited
from the mother or the father).

Families with more than one relative affected, have been reported, and
linkage studies in these familial cases have located the gene for BWS on the
short arm of chromosome 11 (11p15.5). This region contains the insulin-like
growth factor, Type 2 (IGF2 gene), and the product of this gene is a major
fetal growth factor.

INCIDENCE

It is estimated the BWS occurs in between one in 13,700 births an one in
14,300 births, with approximately equal incidence in males and females. The
true incidence may go unreported because less severely affected cases are
not reported or ar misdiagnosed merely as abdominal wall defects or as
infants who are large for gestational age.

SUSPECTING THE DIAGNOSIS

BWS should be considered in any LGA child in the presence of a large and
thickened placenta, polyhydramnios, and a long umbilical cord. If there are
associated anterior abdominal wall defects, visceromegaly, macroglossia,
and/or ear creases or pits, the diagnosis is much more likely, and one
should search for minor features of BWS. Pettenati et al (1986) suggested
the following criteria: craniofacial features such as ear creases and/or
pits, nevus flammeus, midfacial hypoplasia with associated abdominal wall
defects, visceromegaly, gigantism, and/or macroglossia.

Prenatal diagnosis of BWS should be considered when prenatal ultrasound
demonstrates the presence of an omphalocele, macrosomia, or renal/hepatic
enlargement. Omphaloceles may be detected in the second trimester. Increased
placental size (almost twice the normal size) with polyhydramnios resulting
in excessive umbilical cord length, may be useful for prenatal diagnosis
even in the absence of abdominal wall defects.

SPECIFIC CONCERNS

Perinatal BWS is associated with a relatively high incidence of prematurity
(50% of infants in some studies), ranging from 30 to 38 weeks.
Polyhydramnios which occurs in 50% of the pregnancies may reflect impaired
swallowing due to macroglossia or excess urine production from hypertrophied
kidneys. The large placenta, large fetal size, and the polyhydramnios may
result in early delivery due to lack of space in the uterus. This
prematurity contributes to infant mortality that may be as high as 21%.
Causes of death include congestive heart failure, sleep apnea
(macroglossia), and infantile RDS.

Symmetric and Asymmetric Growth

Average growth curves for both sexes parallel the normal growth curves, but
at the 95th percentile. This is also associated with an advanced bone age
until late childhood. Puberty appears t occur around the normal age, at
which time the overgrowth usually diminishes, so that it is not apparent in
adulthood. Asymmetric overgrowth or hemihypertrophy occurs in 13% of cases.

Abdominal Wall Defects

These are very common, occurring in 75% if affected infants. The defects
range from diastasis recti to umbilical hernia or omphalocele, which is the
most common defect. The abdominal wall defects may result from incomplete
return of the intestines from the omphalomesenteric stalk at 10 weeks’
gestation, because of early visceromegaly of the abdominal organs. Other
less common lesions include prune-belly sequence; diaphragmatic eventration,
inguinal hernia, pyloric stenosis, ileal stenosis, colon atresia,
imperforate anus, and intestinal malrotations. The management of the
patients undergoing surgical repairs of these defects is further complicated
by difficult intubation due to the macroglossia, and the need of strict
control of hypoglycemia during the procedure. Hypoglycemia may be treated
with a bolus IV dose of 200 mg/kg of glucose, followed by continuous
infusion of glucose at 6 to 8 mg/kg/min. Some may require steroids,
diazoxide, epinephrine, or somatostatin.

Visceromegaly

In patients with BWS, the increased growth rate can affect the entire body,
one side, or only certain organs and tissues. Organs commonly affected
include kidneys, liver, spleen, and pancreas. Cardiovascular abnormalities,
such as cardiomegaly, are occasionally seen with BWS (15.5%), and this can
be a serious complication. Manifestations of urogenital overgrowth include
clitoromegaly, phallic enlargement, large ovaries or testicles, and
enlargement of the bladder or uterus.

Neoplasms and Tumors

A significant complication of BWS is the increased risk of childhood tumor
development. Studies show that almost 10% of BWS patients developed
malignant tumors. Intra-abdominal tumors, including Wilm’s tumor are seen in
7.5% of patients. The most common are Wilm’s, adrenal cortical carcinoma,
and hepatoblastoma. When hemihypertrophy is associated with BWS, the risk of
malignancy increases to 40%. The long term survival of children with BWS is
dependant on the early detection of malignancies. Abdominal ultrasound at
intervals of 3 months or less are recommended. Monitoring should continue up
to 12 years old, or even up to adolescence. Other recommendations are levels
of alpha-fetoprotein to detect hepatoblastomas, and physical exams with
emphasis on abdominal palpation. A good protocol for BWS and hemihypertrophy
is as follows: 1) baseline CT of the abdomen at age 6 months; 2) abdominal
ultrasound every 3 months until age 7, then every 6 months until completion
of skeletal growth; 3) physical exam and U/A with emphasis on abdominal
palpation every 3 months until age 7, then every 6 months until end of
skeletal growth; 4) serum alpha-fetoprotein at time of initial diagnosis,
then yearly.

Cognitive Development

Overall, intelligence is usually normal, although BWS has previously been
reported in association with mild to moderate mental deficiency (due to
hypoglycemic episodes or to subtle cytogenetic alterations). Infrequently,
mild microcephaly, hydrocephaly, or subdural hematomas have been noted, but
these are complications of perinatal problems.

Lab Findings

Hypoglycemia is transitory but may cause permanent brain damage if
unrecognized. Polycythemia, hypocalcemia, and hypercholesterolemia or
lipidemia are also seen. Other findings include hypothyroidism,
thyroxine-binding globin deficiency, hyperinsulinism, abnormal urinary
excretion of polyamines, and high or low levels of circulating somatomedin
activity.

Prospects for Adults with BWS

Prognosis for long-term survival of BWS patients is favorable if such
neonatal complications as apnea, cyanosis. seizures, hypoglycemia,
polycythemia, and respiratory and feeding problems are addressed.
Eventually, normal adult height and proportions are achieved. Sexual
maturation also occurs normally. The facial features tend to also resolve
with age. Physicians may contact the BWS Network, at 3206 Braeburn Circle,
Ann Arbor, Michigan, 48108.
(Clinical Pediatrics, Volume 34, Number 6, June 1995) //////


http://home.coqui.net/myrna/beck.htm
http://www.laposa.nl/wiedeman.htm

Beckwith-Wiedeman Support Network
3206 Braeburn Cr
Ann Arbor, MI 48108
Phone: (313) 973-0263 (professionals)
Fax: (313) 973-9721
Tollfree: 1-800-837-2976 (families)
Email: a...@a...com


. a nonprofit organization that provides information; increases both public
and professional awareness and encourages research aimed at the cause, early
detection and treatment of Beckwith-Wiedeman or Simpson-Golabi- Behmel and
Isolated Hemihypertrophy syndrome.

Berkeley Citizens, Inc - Self-Advocacy Group
PO Drawer 429
Moncks Corner, SC 29461
Phone: (843) 761-0300
(843) 853-9075 - for families outside local telephone area
Fax (843)761-0303

http://www.genetics.ucla.edu/home/class/1-23-01.pdf
http://www.uni-saarland.de/matfak/fb13/genetik/

Stephen J. Elledge s...@b...tmc.edu
Professor, Department of Biochemistry and Department of Molecular and Human
Genetics
Investigator ..... http://www.bcm.tmc.edu/biochem/fac/elledge.html

http://www.fdg.unimaas.nl/lod/8bws.htm

Pozdrawiam Sark