(2022) 22:135
González‑Maestro et al. BMC Pediatrics
https://doi.org/10.1186/s12887-022-03179-4

Open Access

CASE REPORT

Carotid artery dissection
in Hutchinson‑Gilford Progeria: a case report
Víctor González‑Maestro1* , Einés Monteagudo‑Vilavedra2, Jorge Rodríguez‑Antuña1,
Marta Lendoiro‑Fuentes2, María Soledad Brage Gómez1 and Elena Maside Miño2

Abstract
Background: Strokes in the paediatric age group have their own epidemiology and aetiology and are frequently
misdiagnosed. As in the adult population, they present some risk factors that must be identified. Cerebral arteriopa‑
thies as a cause of paediatric ischaemic stroke present a very diverse aetiology and morphology.
In this article we report a paediatric stroke in a patient who was diagnosed during his first months of life of
Hutchinson-Gilford´s Progeria (HGP). This is a rare genetic condition caused by mutations in the LMNA gene, produc‑
ing an aberrant lamin A protein. The disease leads to premature aging, and cardiovascular complications are the first
cause of morbidity and mortality in these patients.
Case presentation: We report the case of a 5-year-old patient with HGP (missense mutation—de novo—
c.1822G > A in heterozygosis, LMNA gene). The patient was diagnosed during his first year of life and presented
distinct phenotypical features. No other relevant comorbidities were present.
He was admitted to the emergency department for right hemiparesis with at least 4 h of evolution, with inability to
open the hand and slight decrease in the level of consciousness (pedNIHSS 5–6). Cranial-CT and angio-CT showed
findings indicative of left carotid dissection. Consensus was reached on conservative medical management with
anticoagulation and antiplatelet therapy. In the first few days, the patient had a favourable evolution with resolution
of the right lower limb hemiparesis and, one month after discharge, of the hand paresis.
Conclusions: The clinical manifestations, the vascular phenotype of the genetic mutation and the location of the
radiological signs on a specific vascular morphology are indicative of carotid dissection. Spontaneous dissections
occur under a predisposing risk factor or disease and are an exceptional finding in patients with HGP.
Keywords: Carotid, Dissection, Stroke, Hutchinson-Gilford´s Progeria
Background
Strokes in the paediatric age group have their own epidemiology and aetiology and are frequently misdiagnosed
or their diagnosis is delayed. In addition, as in the adult
population, they present some underlying risk factors
that must be identified. With an estimated incidence of
*Correspondence: victor_maceda@hotmail.com
1
Radiology Department, Complexo Hospitalario Universitario de Ferrol,
Sergas, Spain
Full list of author information is available at the end of the article

1:4 million births, there are 132 cases of HutchinsonGilford´s Progeria (HGP) [1] whose morbidity and mortality are related to cerebrovascular events; but to date
and to our knowledge, no case of arterial dissection has
been described.
HGP is a rare genetic condition caused by mutations in
the lamin A protein producing progerin, an aberrant protein. Most patients present de novo heterozygous dominant mutations in the LMNA gene. The disease leads
to premature aging and cardiovascular complications

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are the first cause of morbidity and mortality in these
patients [2, 3].

Case presentation
The patient is a 5-year-old male diagnosed in the
first months of life with HGP disease. He was born
at 34 + 6 weeks of gestational age but during neonatal period he did not present any pathological feature.
Around two months of age, dermatological abnormalities consisting of sclerotic skin and alopecia appeared.
A skin biopsy was performed, histopathological findings
suggested a progeroid syndrome. The genetic study found
a pathogenic mutation in LMNA gene (missense mutation—de novo—c.1822G > A in heterozygosis), as previously reported and described.
He developed phenotypical characteristics of HGP with
micrognathia, prominent forehead and thin lips, loss of
subcutaneous fat tissue and prominent abdomen, among
others. During follow-up, at one year of life he was diagnosed with mild hypertrophic cardiomyopathy with
asymmetric septal hypertrophy, currently asymptomatic.
He has subclinical hypothyroidism, and his neurological
development is in accordance with his chronological age.
He receives Levothyroxine and Fluticasone.
The patient was admitted to the Emergency Department for right hemiparesis of at least 4 h’ evolution. Physical examination confirmed limitation to abduction of
the right arm without counter-resistance. The right hand
shows flexed fingers without opening and the leg claudicates in less than 5 s. Together with a slight decrease in
the level of consciousness, these data would configure a
pedNIHSS 5–6. The remaining neurological examination
and vital signs are normal.
Less than 1 h after arrival, a cranial-CT scan was
performed which showed no ischaemic signs (Online
resource 1) and an angio-CT scan from the neck to the
vertex, after conscious sedation with iv Propofol and
Iohexol 350 mg l/ml adjusted for age and weight as the
contrast medium.
An occlusion is identified in the petrous segment up to
the cavernous segment of the left internal carotid artery
preceded by a pre-occlusive stenosis in the sub-petrous
segment with higher contrast density (Fig. 1) describing a
coiling morphology. Immediately superior to the carotid
bulb, a significant stenosis is observed followed by poststenotic dilatation (Fig. 2). No intracranial thrombus or
significant atheromatous plaques are identified. (Online
resource 2).
The overall radiological findings are indicative of
carotid artery dissection without associated intracranial
thrombus.
The patient was admitted from the Emergency
Department and conservative medical treatment with

Fig. 1 Occlusion of the internal carotid artery in the petrous segment
to the cavernous segment (single arrow) preceded by a long and
progressive stenosis in the sub-petrous segment (double arrow)

Enoxaparin (dose 1 mg/kg/12 h) and acetylsalicylic acid
(5 mg/kg/day) was agreed. Complete blood count, biochemical profile and a basic coagulation study showed no
relevant findings. Minimal levels of anti-Xa factor (0.18)
were found.
He progressed favorably, with no additional neurological deficits indicative of a new stroke. In the first hours
of admission, he recovered mobility of the lower limb,
allowing him to stand upright.
Recovery of the right upper limb was more progressive, with resolution of the hand paresis approximately
one month after admission. Currently, acetylsalicylic acid
is maintained at an antiplatelet dose (40 mg/24 h). At an
external center, 2 months after the neurological event,
treatment was started on a compassionate use basis with
oral Lorafenib.

Discussion and conclusions
Cervical arterial dissection is one of the possible aetiologies of paediatric stroke. Ruling out traumatic origin,
spontaneous arterial dissection occurs in certain patients
with pathologies or risk factors that favour vascular wall

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described on a prone vascular morphology are indicative of carotid dissection. Our limitations for this
case are clear. Inherent to the patient, the difficulty in
managing conscious sedation [10] prior to performing
imaging tests. In addition, local technical limitation
to the use of urgent MRI results in a lower accuracy
and diagnostic capacity of the mural hematoma due
to dissection and cerebral ischaemic changes in the
acute phase. However, angio-CT as well as angio-MRI
[11] seem to have similar accuracy in the diagnosis of
occlusion and the described long previous stenosis.
On the other hand, the therapeutic management of
paediatric stroke remains a challenge, with poor consensus and low scientific evidence. It must always be
adapted to the particularities of the case, exhaustively
assessing the presence of risk factors and the possibility of intervention. Since it is an extracranial dissection,
medical treatment is started. After six days, anticoagulation is suspended due to the erratic absorption of the
patient (minimum values of factor Xa) and the current
controversy surrounding medical treatment of carotid
dissection [12].
In conclusion, arterial dissection is one of the cerebral arteriopathies causing stroke in childhood. Ruling
out the traumatic event, spontaneous dissections occur
under a predisposing risk factor or disease and are an
exceptional finding in pediatric patients and particularly in patients with HGP.

Fig. 2 Coiling in sub-petrous segment (single arrow).Supra bulbar
stenosis and post-stenotic dilatation (double arrow)

Abbreviations
HGP: Hutchinson-Gilford’s Progeria; pedNIHSS: Pediatric National Institutes of
Health Stroke Scale; Cranial-CT: Cranial computered tomography; Angio-CT:
Angiography computered tomography; Angio-MRI: Angiography magnetic
resonance imaging.

Supplementary Information
injury [4]. In this regard, the mutation underlying HGPS
renders the structure and function of the vascular wall
defective [5]. The finding of arterial dissection has not
been described to our knowledge. A vasculopathy unique
to HGPS has been proposed as a cause of stroke since the
hypothesis of atheromatosis has not been validated [6], as
in our case. (Online resource 2 and 3).
Our case is a long occlusion from the petrous segment
(typical location of carotid dissections [7]) to the cavernous segment. It is preceded by a long and progressive stenosis in the sub-petrous segment (long tapering stenosis)
which describes a typical course of arterial coiling, a sign
of severe arterial tortuosity, recognized as a risk factor for
the development of dissection [8].
The clinical manifestations [9], vascular phenotype of the mutation, location and radiological signs

The online version contains supplementary material available at https://​doi.​
org/​10.​1186/​s12887-​022-​03179-4.
Additional file 1. Laboratory tests.
Additional file 2: Online resource 1. No tomographic signs of acute
ischemia are identified, but in the right centrum semiovale there is a
hypodense area which probably reflects a chronic silent stroke typical in
this kind of patients.
Additional file 3: Online resource 2. Left internal carotid occlusion in
petrous segment, preceded by critical stenosis with coiling morphology
in sub-petrous segment. Hypertrophy of anterior and posterior spinal
arteries.
Additional file 4: Online resource 3. Occlusion of left internal carotid
artery in petrous segment, preceded by critical stenosis with coiling mor‑
phology in sub-petrous segment. Short stenosis in cavernous segment
of right carotid artery and at junction of segments V2-V3 of left vertebral
artery.

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Acknowledgements
Thanks to Julia García Carracedo, who revised and edited English language
and grammar issues.
Authors’ contributions
All authors contributed to the case report conception and design. Material
preparation, data collection and analysis were performed by VGM and EMV
and were the major contributors in writing the manuscript. The first draft
of the manuscript was written by VGM, EMV, JRA and MRL and all authors
commented on previous versions of the manuscript. All authors read and
approved the final manuscript.
Funding
The authors did not receive support from any organization for the submitted
work.
Availability of data and materials
The data that support the findings of this study are available from SERGASConsellería de Sanidade, but restrictions apply to the availability of these data,
which were used under license for the current study, and so are not publicly
available. Data are however available from the authors upon reasonable
request.

Declarations

Page 4 of 4

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Springer Nature remains neutral with regard to jurisdictional claims in pub‑
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Ethics approval and consent to participate
This is a case report manuscript. The Research Ethics Committee of A CoruñaFerrol has confirmed that no ethical approval is required.
Consent for publication
The tutor´s patient has given us informed consent. Parents signed informed
consent regarding publishing their child data.
Competing interests
The authors have no relevant financial or non-financial interests to disclose.
Author details
1
Radiology Department, Complexo Hospitalario Universitario de Ferrol, Sergas,
Spain. 2 Paediatrics Department, Complexo Hospitalario Universitario de Ferrol,
Sergas, Spain.
Received: 23 November 2021 Accepted: 23 February 2022

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