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International Journal of Clinical Case Reports 2014, Vol. 4, No. 4, 1-3
http://ijccr.biopublisher.ca
1
Holoprosencephaly with Endocrine Dysfunction--A Case Report
Said Azzoug , Mohamed Bendali , Farida Chentli
Endocrinological Department Bab El Oued Hospital Algiers Algeria
Corresponding author email:
saidazzoug@yahoo.fr
,
International Journal of Clinical Case Reports, 2014, Vol.4, No.4 doi: 10.5376/ijccr.2014.04.0004
Received: 12 Mar., 2014
Accepted: 28 Mar., 2014
Published: 24 Jul., 2014
© 2014 Azzoug et al. This is an open access article published under the terms of the Creative Commons Attribution License, which permits unrestricted use,
distribution, and reproduction in any medium, provided the original work is properly cited.
Preferred citation for this article:
Azzoug et al., 2014, Holoprosencephaly with Endocrine Dysfunction--A Case Report, International Journal of Clinical Case Reports, Vol.4, No.4, 1-3 (doi:
10.5376/ijccr.2014.04.0004)
Abstract
Holoprosencephaly is a brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between
the 18
th
and the 28
th
days of gestation, four subtypes are described, sometimes it may be familial. Facial anomalies, developmental
delay and neurological disorders are the main manifestations but endocrine dysfunction is also frequently reported. We reported the
observation of a male patient who presented at 18 years for growth retardation and pubertal delay; hormonal assessment showed
growth hormone and gonadotrophins deficiencies, other pituitary functions were normal. MRI imaging found holoprosencephaly and
triventricular hydrocephaly but without radiological anomalies of pituitary or pituitary stalk. The patient was treated with growth
hormone with a good growth catching and after that he was treated with androgens; hydrocephaly which was only monitored was
stable over time. Holoprosencephaly requires a multidisciplinary management; its prognosis depends on the severity of the disease
and associated complications.
Keywords
Holoprosencephaly; Endocrine dysfunction; Prognosis; Case report
1 Introduction
Holoprosencephaly (HPE) is a congenital brain
malformation resulting in a lack of cleavage of the
forebrain. It occurs between the 18
th
and 28
th
day of
gestation, resulting in non separation of brain
hemispheres (BH) (Manus and Benjamin, 2012).
It is an heterogeneous disease. It is often associated
with craniofacial defects and endocrine damages that
can even reveal the disease as was the case in our
patient (Manus and Benjamin, 2012).
2 Case report
Mr. SA 28 years old, presented first at 17 years for
growth retardation. Clinical examination revealed a
height of 146 cm (-4DS) a BMI of 16.3 kg/m
2
an
impuberism, a discrete dysmorphic syndrome with a
high forehead, a broad flat nose, spaced teeth and
genu valgum. Bone age was estimated at 12 years.
Hormonal evaluation found growth hormone and
gonadotrophins deficiency normal basal cortisol with
inadequate reserves (Table 1).
Table 1 Hormonal assesment
Hormones
Observed Values
Normal Values
Cortisol (Nmol/L)
333 (Maxmal response after insuline tolerance test =510)
154-638
Testosterone (ng/mL)
0.26
2.7-17
LH (Mu/mL)
< 0.7
0.8-7.6
FSH (Mu/mL)
0.18
0.7-11.1
FT4 (pmol/L)
13.9
10-25
Prolactine (ng/mL)
3
3-13