Congenital asymmetric crying facies and agenesis of corpus callosum

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  • Case report

    Congenital asymmetric crying facies and agenesis of corpus callosum

    Konstantinos A. Voudrisa,*, Angeliki Skardoutsoub, Eleni A. Vagiakouc

    aDepartment of Neurology, P & A Kyriakou Childrens Hospital, Thivon & Levadeias Street, 115 27 Athens, GreecebSecond Department of Paediatrics-University of Athens, P & A Kyriakou Childrens Hospital, Thivon & Levadeias Street, 115 27 Athens, Greece

    cDepartment of Microbiology, G. Gennimatas General Hospital, Athens, Greece

    Received 18 April 2002; received in revised form 29 August 2002; accepted 6 September 2002

    Abstract

    Although association of congenital asymmetric crying facies (CACF) with major congenital anomalies of central nervous system (CNS)

    has been described, brain magnetic resonance imaging (MRI) studies have not been reported. Two children who had CACF associated with

    agenesis of corpus callosum (ACC) diagnosed by MRI are described. Neurofibromatosis type 1 (NF-1) was diagnosed in one case. Both

    patients had developmental delay. To the best of our knowledge, only one previous case with CACF associated with ACC has been reported,

    but our cases are the first cases reported with the characteristic findings of ACC on MRI. Although cafe-au-lait spots have been described in

    previous cases, the coexistence of CACF and NF-1 has not previously been reported. Although these associations may be coincidental,

    clinicians should be aware of the potential link between these entities. Furthermore, these findings emphasize the importance of MRI studies

    for detecting brain anomalies in cases with CACF and suspected CNS involvement.

    q 2002 Elsevier Science B.V. All rights reserved.

    Keywords: Congenital asymmetric crying facies; Depressor anguli oris muscle; Agenesis of corpus callosum; Neurofibromatosis type 1; Magnetic resonance

    imaging

    1. Introduction

    Congenital asymmetric crying facies (CACF) is a minor

    congenital anomaly characterized by a failure of one corner

    of the mouth to move downward and outward with a cry or

    grimace, while forehead wrinkling, nasolabial fold depth,

    and eye closure remain intact on both sides [1]. In this

    clinical presentation, only the lower lip is involved and

    palpable thinning of the lateral portion of the lower lip is

    usually present on the affected side. Associations of this

    minor facial defect with major congenital anomalies have

    been reported, most commonly in the cardiovascular system

    and less frequently involving the genitourinary, skeletal,

    and/or respiratory system, and, rarely, the central nervous

    system (CNS) [24]. Two children who had CACF asso-

    ciated with agenesis of corpus callosum (ACC) are

    described. To our knowledge, there is only one previous

    reported patient with CACF and ACC [3]; however, our

    cases are the first cases reported with CACF associated

    with ACC detected on brain magnetic resonance imaging

    (MRI).

    2. Case reports

    2.1. Case 1

    A 10-month-old girl was referred to our hospital for

    evaluation of facial asymmetry. This defect had been noted

    by her parents since birth, only on crying or smiling, and no

    improvement was seen in subsequent months. She is the third

    child in the family and was born at term by vaginal delivery.

    No maternal use of medication or antepartum illness was

    reported. Outlet forceps were not applied, and no neonatal

    complications were recognized. There was no parental

    consanguinity and family history was non-contributory.

    She had a mild developmental delay; she was able to hold

    her head at 5 months, and could not sit at the time of exam-

    ination. The physical and neurological examinations was

    unremarkable except for a failure of right corner of the

    mouth to move downward and outward with a cry or grimace,

    while forehead wrinkling, nasolabial fold depth, and eye

    closure remained intact on both sides. Palpable thinning of

    the right lower lip near its right margin was also noted.

    Brain & Development 25 (2003) 133136

    0387-7604/02/$ - see front matter q 2002 Elsevier Science B.V. All rights reserved.

    doi:10.1016/S0387-7604(02)00165-1

    www.elsevier.com/locate/braindev

    * Corresponding author. Tel.: 13-010-6211354/7793000; fax: 13-010-

    7774383.

    E-mail address: kvoudris@otenet.gr (K.A. Voudris).

    Abbreviations: CACF, congenital asymmetric crying facies; ACC, agenesis

    of corpus callosum; CC, corpus callosum; MRI, magnetic resonance

    imaging; NF-1, neurofibromatosis type 1; CNS, central nervous system

  • Laboratory investigations, such as full blood count,

    routine blood chemistry and urinalysis were normal. Facial

    electromyography showed the intactness of the facial nerve

    on the affected side. Ultrasonographic examination of the

    abdomen, brain-stem auditory evoked potentials, and a

    complete cardiac evaluation were normal. The patient had

    a normal karyotype and the electroencephalogram was

    within normal limits. Brain MRI revealed ACC, with a

    poorly formed rostrum, widely separated and parallel bodies

    of the lateral ventricles, and dilatation of the trigones. The

    sagittal plane scan of the medial surface of the cerebral

    hemispheres showed sulci and gyri having an abnormal

    pattern, radiating toward the missing corpus callosum

    (CC) into the 3rd ventricle (Fig. 1).

    The patient underwent follow-up in the out-patient clinic,

    and at present, 3 years after the initial investigation, she has

    language delay with persisted facial asymmetry on crying or

    smiling, which is less obvious than on earlier examinations.

    2.2. Case 2

    A 9-year-old boy had a facial weakness on the left side

    from birth. The patient underwent periodical examinations

    in our outpatient clinic from the age of 4 years, and his facial

    defect presented some improvement in the subsequent years

    of life. He is the second child of the family and the product

    of a full-term uncomplicated gestation, labor, and delivery.

    No maternal use of medication or antepartum illness was

    reported. Past medical history indicates some delay achiev-

    ing the milestones, while family history was unremarkable

    for similar facial defect. On examination, when he smiled or

    cried, the right corner of the mouth drew right and down-

    ward, while the left moved slightly. Extra-ocular move-

    ments, eyelid closure, nasolabial fold depths, and forehead

    elevation were intact and symmetric. Furthermore, the

    patient had had mild mental retardation, learning disabil-

    ities, several cafe-au-lait spots, axillary and inguinal freck-

    ling and involvement of the iris by pigmented hamartomas

    (Lisch nodules). Because of these findings, neurofibromato-

    sis type 1 (NF-1) was diagnosed.

    Laboratory investigations, such as full blood count,

    routine blood chemistry and urinalysis were normal. Elec-

    trical testing confirmed the intactness of the facial nerve.

    The ultrasonographic examination of the abdomen, brain-

    stem auditory evoked potentials, karyotype, and complete

    cardiac evaluation were normal. Brain MRI revealed partial

    ACC with a poorly formed genu and a small part of the body

    of the CC, widely separated and parallel bodies of the lateral

    ventricles, dilatation of the trigones and occipital horns,

    upward, crescentic lateral ventricles, and upward extension

    of cavity of third ventricle. The sagittal plane scan of the

    medial surface of the cerebral hemispheres showed sulci and

    gyri having an abnormal pattern, radiating toward the miss-

    ing CC (Fig. 2).

    3. Discussion

    CACF is a relatively common minor anomaly, which is

    K.A. Voudris et al. / Brain & Development 25 (2003) 133136134

    Fig. 1. (a) Midsagittal brain T1-weighted MRI of the first case showing

    ACC, with a poorly formed rostrum, and radiating sulci and gyri. (b) Axial

    brain T2-weighted MRI of the first case showing dilatation of the trigones.

    Fig. 2. Midsagittal brain T1-weighted MRI of the second case showing

    partial ACC, with a poorly formed genu and a small part of the body of

    CC, and radiating sulci and gyri.

  • easily recognizable clinically. Supported by electromyogra-

    phical investigations, congenital hypoplasia or absence of

    the depressor anguli oris muscle has been assumed as the

    main reason for this facial defect [5]. However, no patholo-

    gical documentation for this is available and other investi-

    gators showed that this muscle was present in some cases

    with CACF [6,7]. The etiology of CACF is still unexplained

    and probably multifactorial. Intrauterine viral infection,

    chromosomal aberrations, hereditary factors, birth-trauma

    to the marginal mandibular branch, and/or a defect located

    at the brainstem level have been considered to be involved

    in the pathogenesis of this facial defect [7]. In our patients,

    history, examination, and laboratory investigations gave no

    clue to the etiology of CACF.

    The interest in the CACF has grown in recent years

    because of its association with congenital abnormalities.

    Incidence for these associated malformations varies from

    4.9 to 75% [3,4]. The difference in incidence of associated

    congenital anomalies in the previous studies may result

    from the different methods of case finding or from the fail-

    ure to search for hidden anomalies, such as CNS malforma-

    tions. Anomalies of the CNS have be