European Journal of Medical Genetics 65 (2022) 104559

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European Journal of Medical Genetics

journal homepage: www.elsevier.com/locate/ejmg

Catatonic syndrome and Baraitser Winter syndrome: Case report and

review of the literature
E. Diab a, *, G. Morin b, L. Hery c, V. Barbier d, G. Cottin e, F. Jobic b, M. Tir a
a
Department of Neurology, CHU Amiens Picardie, France
b
Department of Clinical Genetic, CHU Amiens Picardie, France
c
Department of Pediatric Neurology, CHU Amiens Picardie, France
d
Department of Physical and Rehabilitation Medicine, CHU Amiens Picardie, France
e
Department of Psychiatry, CHU Amiens Picardie, France

A R T I C L E I N F O

Keywords:
BWCFF
Extrapyramidal symptoms
Catatonic syndrome

1. Introduction spectrum:mutation c.359C>T; p.(Thr120Ile) in the ACTB gene

Baraitser Winter Cerebrofrontofacial syndrome (BWCFF) is a rare
syndrome, with less than 100 cases reported around the world. Its
diagnosis is complex due to its clinical variability.
Baraitser-Winter Cerebrofrontofacial syndrome was first reported by
Michael Baraitser and Robin Winter in 1988 (Baraitser and Winter
1988). This genetic disease is characterized by facial dysmorphism,
non-myopathic ptosis, iris or retinal coloboma, sensorineural deafness,
renal abnormalities such as hydronephrosis, pachygyria and/or heter­
otopia with anteroposterior severity gradient, progressive joint stiffness,
and intellectual disability of variable degree, often accompanied by se­
vere epilepsy depending on the degree of gyration abnormalities.
Although the minimum clinical diagnostic criteria are still difficult to
define, the facial phenotype appears to be the most reliable symptom at
all ages. Neural migration defect and ocular coloboma are highly sug­
gestive, but not mandatory.
This relatively recently discovered syndrome is a heterogeneous
disorder, caused by a heterozygous mutation of one of the two genes
encoding ubiquitously expressed types of actin: ACTB and ACTG. All
mutations are missense and probably act through a gain-of-function
mechanism, since deletions of these same genes do not lead to the
BWCFF (Rivière et al., 2012). The phenotypic expression of BWCFF
syndrome is truly variable, two pathogenic variants have been found in
those with the most severe presentation of the BWCFF syndrome clinical
(NM_001101.5) [OMIM 102630; 243310] and mutation c.608C>T; p.
Thr203Met in the ACTG1 gene (NM_001614.5) [OMIM 102560;
614583].
This wide phenotypic spectrum of BWCFF includes: Cerebro­
frontofacial syndrome type 1,Cerebrofrontofacial syndrome type 3 and
Fryns-Aftimos syndrome with a later onset (Fryns and Aftimos, 2000).
Among the neurologic symptoms associated, extrapyramidal symptoms
(progressive generalized dystonia without dopamine response) have
only been reported in an allelic disorder called dystonia-deafness
syndrome.
Moreover, the biggest series of BWCFF cases included 42 patients
(Verloes et al., 2015), the patient we described here is actually Patient
B20 of this series.
We present a French case of BWCFF syndrome who presented an
acute access of catatonic syndrome and parkinsonian signs, with a re­
view of the literature.
2. Clinical report
This young man is currently 18-year-old and affected by BWCFF
syndrome. He is the second child of healthy unrelated parents, and his
old sister is healthy. His story began early during pregnancy with the
discovery at the first trimester of a cystic hygroma at 8 mm. Karyotype
on amniotic fluid cells found a 46,XY formula. At 21 weeks of gestation

Abbreviations: BWCFF, Baraitser Winter Cerebrofrontofacial syndrome.

* Corresponding author.
E-mail address: diab.eva@chu-amiens.fr (E. Diab).

https://doi.org/10.1016/j.ejmg.2022.104559
Received 10 January 2022; Received in revised form 22 May 2022; Accepted 3 July 2022
Available online 6 July 2022
1769-7212/© 2022 Elsevier Masson SAS. All rights reserved.