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

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.
PMID
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Authors

Mayor MeshTerms
Keywords

Alobar holoprosencephaly

central hypothyroidism

diabetes insipidus

infant

Journal Title the pan african medical journal
Publication Year Start




PMID- 29599891
OWN - NLM
STAT- MEDLINE
DCOM- 20180405
LR  - 20180405
IS  - 1937-8688 (Electronic)
VI  - 28
DP  - 2017
TI  - [Alobar holoprosencephaly associated with diabetes insipidus and hypothyroidism
      in a 10-month old infant].
PG  - 193
LID - 10.11604/pamj.2017.28.193.11288 [doi]
AB  - 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.
FAU - Seck, Ndiogou
AU  - Seck N
AD  - Service de Pediatrie, UFR des Sciences de la Sante, Universite Gaston Berger de
      Saint-Louis, Senegal.
FAU - Basse, Idrissa
AU  - Basse I
AD  - Service de Pediatrie, UFR des Sciences de la Sante, Universite de Thies, Senegal.
FAU - Keita, Younoussa
AU  - Keita Y
AD  - Service de Pediatrie, Faculte de Medecine, de Pharmacie et d'Odonto-stomatologie,
      Universite Cheikh Anta Diop de Dakar (Senegal).
FAU - Boiro, Djiril
AU  - Boiro D
AD  - Service de Pediatrie, Faculte de Medecine, de Pharmacie et d'Odonto-stomatologie,
      Universite Cheikh Anta Diop de Dakar (Senegal).
FAU - Thiam, Lamine
AU  - Thiam L
AD  - Service de Pediatrie, UFR des Sciences de la Sante, Universite Assane Seck de
      Ziguinchor, Senegal.
FAU - Ndongo, Aliou Adoulaye
AU  - Ndongo AA
AD  - Service de Pediatrie, Faculte de Medecine, de Pharmacie et d'Odonto-stomatologie,
      Universite Cheikh Anta Diop de Dakar (Senegal).
FAU - Diagne, Ibrahima
AU  - Diagne I
AD  - Service de Pediatrie, UFR des Sciences de la Sante, Universite Gaston Berger de
      Saint-Louis, Senegal.
LA  - fre
PT  - Case Reports
PT  - Journal Article
TT  - Holoprosencephalie alobaire avec diabete insipide et hypothyroidie chez un
      nourrisson de 10 mois.
DEP - 20171101
PL  - Uganda
TA  - Pan Afr Med J
JT  - The Pan African medical journal
JID - 101517926
SB  - IM
MH  - Diabetes Insipidus/*etiology
MH  - Holoprosencephaly/complications/*diagnostic imaging
MH  - Humans
MH  - Hypothyroidism/*etiology
MH  - Infant
MH  - Male
MH  - Psychomotor Disorders/etiology
MH  - Tomography, X-Ray Computed/methods
PMC - PMC5871248
OTO - NOTNLM
OT  - Alobar holoprosencephaly
OT  - central hypothyroidism
OT  - diabetes insipidus
OT  - infant
EDAT- 2018/03/31 06:00
MHDA- 2018/04/06 06:00
CRDT- 2018/03/31 06:00
PHST- 2016/11/29 00:00 [received]
PHST- 2016/12/06 00:00 [accepted]
PHST- 2018/03/31 06:00 [entrez]
PHST- 2018/03/31 06:00 [pubmed]
PHST- 2018/04/06 06:00 [medline]
AID - 10.11604/pamj.2017.28.193.11288 [doi]
AID - PAMJ-28-193 [pii]
PST - epublish
SO  - Pan Afr Med J. 2017 Nov 1;28:193. doi: 10.11604/pamj.2017.28.193.11288.
      eCollection 2017.