Artikel
Cephaloceles: prenatal screening – consequences drawn – clinical reality
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Veröffentlicht: | 4. Juni 2012 |
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Gliederung
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Objective: Cephaloceles belong to a group of neural tube defects possibly resulting in different degrees of clinical impairment. Increasingly sophisticated techniques are applied in prenatal screening tests to detect different kinds of developmental defects at an early stage with high precision. The aim of our study is to compare the clinical reality of children and adults born with cephaloceles to the results of prenatal screening tests and subsequent consequences drawn afterwards.
Methods: We reviewed the data of 16 fetuses and babies with cephaloceles collected between 2000 and 2010 in the malformation monitoring center. Special focus was put on the consequences drawn after prenatal testing. We further reviewed a group of 13 consecutive patients seen in neurosurgical care. Follow-up analysis included the documentation of the kind of cephalocele, neuroradiological details, questions of treatment and clinical data as to questions and degree of neurological impairment of the patient.
Results: Between 2000 and 2010, the data of 16 fetuses with cranial neural tube defects seen in prenatal screening studies were collected. As a consequence, termination of pregnancy resulted in 14 cases (87,5%). In the other group of 13 children 7 were born and seen with occipital lesions; one child was lost to follow-up, in one child the lesion primarily seen as encephalocele turned out to be a lipoma with intracranial extension. 3 children were operated for fronto-nasal cephaloceles. 2 children developed hydrocephalus which requiring shunting and showed moderate neurological impairment in daily activity. 3 patients between 12 and 46 years of age were admitted for rhinoliquorrhea, meningitis was seen in one patient of the group in which basal encephaloceles were detected and treated as causative mechanism, no neurological impairment was seen in this group.
Conclusions: Cephaloceles include a wide variety of different neuropathological entities and clinical courses are different, too. Prenatal counselling should include findings of neurosurgical follow-up for final decision making. As postnatal ultrasound diagnosis had to revised in one child finally presenting with a lipoma extending intracranially, a critical analysis of diagnostic procedures seems mandatory.