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Case Reports
. 2017 Nov 1:28:193.
doi: 10.11604/pamj.2017.28.193.11288. eCollection 2017.

[Alobar holoprosencephaly associated with diabetes insipidus and hypothyroidism in a 10-month old infant]

[Article in French]
Ndiogou Seck  1 , Idrissa Basse  2 , Younoussa Keita  3 , Djiril Boiro  3 , Lamine Thiam  4 , Aliou Adoulaye Ndongo  3 , Ibrahima Diagne  1
Affiliations
Case Reports

[Alobar holoprosencephaly associated with diabetes insipidus and hypothyroidism in a 10-month old infant]

[Article in French]
Ndiogou Seck et al. Pan Afr Med J. .

Abstract
in English, French

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.

L’holoprosencéphalie (HPE) est une malformation cérébrale grave due à un défaut de clivage médian du prosencéphale. C’est une anomalie le plus souvent associée à des malformations cranio-faciales, d’un retard du développement psychomoteur, d’un diabète insipide et de troubles endocriniens variables. Les étiologies sont diverses regroupant les anomalies chromosomiques (trisomie 13, 18), les syndromes polymalformatifs (syndrome de CHARGE). Le diagnostic repose sur l’imagerie cérébrale. Quelques rares cas ont été décrits dans la littérature. Nous rapportons le cas d’une HPE alobaire chez un nourrisson de 10 mois. Le diagnostic a été posé au scanner cérébral devant la constatation d’un retard du développement psychomoteur en l’absence de malformations visibles. Le bilan endocrinien a permis de déceler un diabète insipide central et une hypothyroïdie centrale probablement d’origine hypothalamique.

Keywords: Alobar holoprosencephaly; central hypothyroidism; diabetes insipidus; infant.

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Figures

Figure 1
Figure 1
Coupe sagitale TDM cérébrale holoprosencéphalie alobaire avec aspect de fer à cheval
Figure 2
Figure 2
Coupe frontale TDM cérébrale: holoprosencéphalie alobaire
See this image and copyright information in PMC

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