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2015 ; 11
(2
): 87-92
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Meckel Gruber syndrome, A case report
#MMPMID26037304
Aslan K
; Külahç? Aslan E
; Orhan A
; Atalay MA
Organogenesis
2015[]; 11
(2
): 87-92
PMID26037304
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INTRODUCTION: Meckel-Gruber Syndrome was first described by J R Meckel in 1822.
It is an autosomal recessive disorder, and is caused by the failure of mesodermal
induction. The typical triad of Meckel-Gruber Syndrome (MGS) involves
meningo-encephalocele, polycystic kidneys and postaxial polydactyly. The
worldwide incidence varies from 1 in 1.300 to 1 in 140.000 live births. CASE: In
this report, we present a case of MGS in which the diagnosis was made at 19 weeks
of gestation based on ultrasonographic findings of the typical triad of the
disease (encephalocele, polycystic kidneys, and polydactyly) These features were
suggestive of the diagnosis of Meckel Gruber Syndrome (MGS). She had also
placenta previa totalis. The patient was counselled regarding the lethal outcome
of MGS. Unfortunately, the family did not approve the termination of pregnancy.
At the 32nd week, she referred to hospital with complaints of vaginal bleeding
and uterine contractions. An emergency cesarean section was perfomed due to
plasental malposition. A 1380 gr, female fetus was delivered. First and 5th
minute Apgar scores were 1 and 0, respectively. Consequently, the baby died after
45 minutes of neonatal resuscitation. CONCLUSION: MGS is a lethal disorder. One
cannot speak about survival of the fetus because of the pulmonary hypoplasia. The
parents should be counseled about prognosis of the fetus and the outcome.
Counselers should strictly give information about the recurrence risk for the
next pregnancies.
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