Back to Search
Start Over
[Alobar holoprosencephaly associated with diabetes insipidus and hypothyroidism in a 10-month old infant].
- Source :
-
The Pan African medical journal [Pan Afr Med J] 2017 Nov 01; Vol. 28, pp. 193. Date of Electronic Publication: 2017 Nov 01 (Print Publication: 2017). - Publication Year :
- 2017
-
Abstract
- Holoprosencephaly (HPE) is a serious brain malformation due to a failure of medial forebrain cleavage. This is an abnormality which is more often associated with craniofacial malformations, psychomotor development delay, diabetes insipidus and variable endocrine disorders. It is due to different causes including chromosomal abnormalities (trisomy 13, 18)and polymalformative syndromes (CHARGE Syndrome). Diagnosis is based on brain imaging. A few rare cases have been described in the literature. We here report the case of alobar HPE in a 10-month old infant. Diagnosis was based on cerebral CT scan performed due to delayed psychomotor development and in the absence of visible malformations. Endocrine assessment allowed to detect central diabetes insipidus and central hypothyroidism, probably of hypothalamic origin.
Details
- Language :
- French
- ISSN :
- 1937-8688
- Volume :
- 28
- Database :
- MEDLINE
- Journal :
- The Pan African medical journal
- Publication Type :
- Academic Journal
- Accession number :
- 29599891
- Full Text :
- https://doi.org/10.11604/pamj.2017.28.193.11288