Polymicrogyria, aventriculy, polydactyly, encephalocele, callosal agenesis (PAPEC): a new syndrome?

Abstract

Introduction
Aventriculy is a very rare observation and is generally associated with holoprosencephaly. We report here a case of polymalformation affecting the brain, hands, and feet observed in a highly consanguineous family in Niger.

Case report
A boy was born from a highly consanguineous family presenting multiple malformations (aventriculy, extreme microcephaly, polydactyly, polymicrogyria, callosal agenesis, and parietal encephalocele). To the best of our knowledge, such association has never been reported so far.

Discussion
We propose to name this association PAPEC (for polymicrogyria, aventriculy, polydactyly, encephalocele, and callosal agenesis). The occurrence of this disease in a highly consanguineous family suggests a genetic origin. Furthermore, we propose hypotheses that could explain pathophysiology of this defect.

Full text

Vol.:(0123456789)
1 3
https://doi.org/10.1007/s00381-022-05529-0
CASE REPORT
Polymicrogyria, aventriculy, polydactyly, encephalocele, callosal
agenesis (PAPEC): anew syndrome?
A.B.Kelani1,2· S.Sanoussi1,2· M.GarbaMamadou3· M.Catala4
Received: 5 April 2022 / Accepted: 11 April 2022
© The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2022
Abstract
Introduction Aventriculy is a very rare observation and is generally associated with holoprosencephaly. We report here a
case of polymalformation affecting the brain, hands, and feet observed in a highly consanguineous family in Niger.
Case report A boy was born from a highly consanguineous family presenting multiple malformations (aventriculy, extreme
microcephaly, polydactyly, polymicrogyria, callosal agenesis, and parietal encephalocele). To the best of our knowledge,
such association has never been reported so far.
Discussion We propose to name this association PAPEC (for polymicrogyria, aventriculy, polydactyly, encephalocele, and
callosal agenesis). The occurrence of this disease in a highly consanguineous family suggests a genetic origin. Furthermore,
we propose hypotheses that could explain pathophysiology of this defect.
Keywords Cell proliferation· Cilia· Centriole· Choroid plexus
Cerebral aventriculy is a very rare human malformation since
only 7 cases have already been published [1–7]. Such a defect
has been linked with holoprosencephaly [1–4, 6, 7]. Only
one case of aventriculy without holoprosencephaly has been
reported [5]. Recently, we had the opportunity to care for a
male infant presenting multiple malformations characterized by
aventriculy, encephalocele, corpus callosum agenesis, and poly-
dactyly. Since no similar association has ever been reported so
far, we wonder if such an association could be a new syndrome.
Case report
A male baby with polymalformation was born in a small
Turaeg village located in the district of Tahoua (Niger). He
was referred to the Department of Neurosurgery (National
Hospital, Niamey, Niger) when he was 50days old. Mul-
tiple malformations were observed: extreme microcephaly
(occipito-frontal circumference = 29cm, −8 SD) (Fig.1A),
parietal encephalocele (Fig.1B), post-axial polydactyly
affecting both hands (Fig.1C, D) and feet (Fig.1E). Neu-
rological examination was normal for age. This child was
the first of a young couple born from a highly consanguine-
ous family (Fig.2). However, no similar case was already
noticed in this family.
Cerebral CT showed no lateral ventricles. Bone 3D recon-
struction demonstrated a parietal midline defect (Fig.3A);
the encephalocele involved the posterior part of the dural
sinuses. On cerebral MRI, lateral ventricles were absent as
well as the anterior region of the third ventricle. The pos-
terior region of the third ventricle (Fig.3B) and the fourth
ventricle were observed. The corpus callosum was entirely
missing (Fig.3B). The hemispheres were highly abnormal
with no Sylvian fissure (Fig.3B) and extensive polymicro-
gyria (Fig.3C). On the medial face of the hemispheres,
abnormal deep sulci were evidenced (two located on the
right hemisphere and one on the left) (Fig.3B, D). The
banks of these sulci were lined by grey matter (Fig.3D).
Whole-body MRI showed no other visceral malformations.
The encephalocele was repaired and the extra-forefingers
removed. Extra-toes were conserved.
* M. Catala
martin.catala@upmc.fr
1 Département de Chirurgie, Faculté Des Sciences de La Santé
(FSS), de l’Université Abdou Moumouni (UAM), Niamey,
Niger
2 Service de Neurochirurgie, Hôpital National, Niamey, Niger
3 Service de Radiologie, Hôpital National, Niamey, Niger
4 Institut de Biologie Paris Seine (IBPS) - Developmental
Biology Laboratory, UMR 7622 CNRS, INSERM ERL 1156,
Sorbonne Université 9 quai Saint-Bernard, 75005Paris,
France
/ Published online: 27 April 2022
Child's Nervous System (2022) 38:2029–2032
Content courtesy of Springer Nature, terms of use apply. Rights reserved.