[Prenatal diagnosis of Meckel-Gruber syndrome. Case report and literature review].
BACKGROUND
Meckel-Gruber syndrome is a ciliopathy, a lethal autosomal recessive disorder that occurs in all races and ethnicities; it is characterized by central nervous system abnormalities, resulting in mental retardation, bilateral renal cystic dysplasia and malformations of hands and feet. To date there have been only about 200 cases reported worldwide. It is a disease with a recurrence rate of 25% whose most reliable method for diagnosis is prenatal ultrasound. The mortality rate is 100% and in view of the high index of recurrence, subsequent pregnancies should be investigated appropriately with genetic counseling.


METHODS
We present the case of a 15 years-old mother with 30.2 weeks pregnancy resulting from rape by consanguinity (grandfather), without prenatal care. On admission HD ultrasound study is performed finding fetus fetometria average 26.2 weeks (for discordant fetometria head circumference 187.5 mm to 21.0 weeks gestation -3DE-) lost in the skull shape of the shell line is observed winding mean; not cut down, cavum septum pellucidum or herniated sac cerebellum and occipital level (encephalocele) are evident. It starts cervical ripening with prostaglandins for 24 hours to conduct further labor with oxytocic and delivery care where a fetus death, female, 1516 g is obtained. Fetal autopsy family is authorized; however, it not has done because it is legal and only medical geneticist obtains medical case assessment.


CONCLUSIONS
The Meckel-Gruber syndrome is a very rare condition that occurs in cases of consanguinity occasions. Mortality occurs in 100% of cases, so you should talk to parents and explain the best maternal prognosis, with abortion in the early stages and subsequent genetic counseling.
J
J
Audifred-Salomón
Barrita-Domínguez I J
de Zárate-Alarcón
de ZA
Ortiz
H
H
Sánchez-Hernández
A
A
Camacho-Cervantes
D000028:Abortion, Induced / Q000379:methods; D000293:Adolescent; D002925:Ciliary Motility Disorders / Q000175:diagnosis* / Q000503:physiopathology; D004677:Encephalocele / Q000175:diagnosis* / Q000503:physiopathology; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D005817:Genetic Counseling / Q000379:methods; D005865:Gestational Age; D006801:Humans; D007690:Polycystic Kidney Diseases / Q000175:diagnosis* / Q000503:physiopathology; D011247:Pregnancy; D012174:Retinitis Pigmentosa; D016216:Ultrasonography, Prenatal / Q000379:methods*