Dr.Akshay Kishore , Dr.Jayasree , Dr.Suhas , Dr.C.Jayakumar. Amrita institute of medical sciences.
Newborn 20day old male child 1st child of Non- consanguineous marriage with antenatally detected occipital encephalocoele , bilateral polycystic kidneys and oligohydramnios , Preterm at 33 weeks/B.W -1.9kg via LSCS , developed respiratory distress soon after birth and was put on bubble CPAP.
Ba also had large head with occipital encephocoele.
There was sun setting sign and features of raised ICP.
Hence ba was referred toAIMS for further evaluation and management.
Only differential diagnosis with the above mentioned findings is Meckel Gruber syndrome.
On examination , ba was on bubble CPAP with PEEP of 6. AF was wide open with broad forehead and large occipital meningo
encephalocele and Polydactyly present. CNS examination showed AF lax with good cry. Moros reflex and . Tone were normal. Ba was kept NPO with IV fluids on flow.
Labs showed normal CRP and normal counts. Serum creatinine was normal.
TFT was normal.
USG abdomen showed enlarged echogenic polycystic kidneys. ECHO was done which was normal. Ba was taken up for palliative VP shunt Surgery and that went uneventful. Ba was extubated after 4 days to nasal cannula and then to room air. Genetic testing was done which showed mutation of Meckel Gruber syndrome.
Ba was discharged and advised to review on OPD basis and also to monitor head circumference on review.
Discussion :
Meckel-Gruber syndrome is a rare autosomal recessive lethal malformation characterized typical manifestations of occipital encephalocele, bilateral polycystic kidneys and post axial polydactyly. The worldwide incidence varies from 1 in 13,250 to 1 in 140,000 live births. It is mapped to 6 different loci in different chromosomes 17q21-24 (MGS1), 11q13 (MGS2), 8q21.3-q22.1 (MGS3), 12q21.31-q21.33 (MGS4), 16q12.2 (MGS5), and 4p15.3 (MGS6). The major diagnostic criteria of MGS include at least 2 of these 3 classic manifestations, cystic renal dysplasia, occipital encephalocele or other anomalies of central nervous system and polydactyly. Meckel-Gruber syndrome is a lethal disorder. Most infants are stillborn or die within few hours or days after birth. A few sometimes survive for few months with poor quality of life. The high mortality and morbidity is due to non functional kidneys, liver and pulmonary hypoplasia. The parents can be counseled about the outcome and prognosis of the fetus and recurrence risk for the next pregnancy. Fetal autopsy is advised to establish the correct diagnosis.
Take home message : Meckel Gruber syndrome is a rare syndrome. Proper antenatal scanning and termination of pregnancy are the crucial steps in prevention.
