ESPN 50th Annual Meeting

ESPN 2017


 
Bladder diverticula caused by Occipital horn syndrome-a case-report
IVA PALCIC 1 ANDREA CVITKOVIC ROIC 1 GORAN ROIC 2 GORAN KRAKAR 3 ALEMKA JAKLIN KEKEZ 1

1- POLYCLINIC FOR PEDIATRIC DISEASE HELENA
2- CHILDRENĀ“S HOSPITAL ZAGREB
3- POLYCLINIC FOR PEDIATRIC DISEASE SABOL
 
Introduction:

Occipital horn syndrome is an X-linked recessive connective tissue disorder caused by a deficiency in the transport of copper. The disorder is considered a milder variant of Menkes disease, associated with mutations in the ATP7A gene. Children may present with features such as intractable diarrhea, bladder diverticula or recurrent UTI. Motor development is delayed due to muscle hypotonia. Inguinal hernia is common. Arterial aneurysms have also been described.  Deformations in the skeleton are present. Diagnosis is based on the clinical features and confirmed by identification of a mutation in the ATP7A gene. Radiography shows characteristic occipital horns which are symmetric exostoses protruding from the occipital bone.

Material and methods:

 We present a 6,5  year old boy with Occipital horn syndrome who has a large bladder diverticula.

Results:

A 14 month-old boy was addmited with macrohaematuria and recurrent UTI. He presented at birth with poor muscle tone and  fracture of the occipital bone. The patient was hypotrofic and hypotonic with delayed psyhomotoric development.  His ultrasound examination revealed massive bladder diverticula, which was confirmd by VCUG. The urodynamics was normal. In laboratory findings low cooper and ceruloplasmin were found. Genetic analysis showed mutation of ATP7A gene (duplication in exons 11 and 12) and diagnosis of Occipital horn syndrom was made.

During the follow-up the diverticula did not empty propertly and boy suffered numerous UTI despite prophylactic antibiotic. At the beginning clean intermitent cateterisation was helpfull. But as the infection continued  and new diverticula appeared, he underwent cystostoma and now he has been free of infection for a six months.

Conclusions:

 Large bladder diverticula can be the part of underlying connective tissue disorder. Our case showed the boy with large bladder diverticula in a rare Occipital horn syndrom caused by a deficiency in the transport of copper, associated with mutations in the ATP7A gene.