|Year : 2019 | Volume
| Issue : 1 | Page : 52-54
Arterial ischemic stroke in a child with internal carotid artery hypoplasia and protein S deficiency
Rekha Gupta1, Roosy Aulakh2, Abhimanyu Tiwari3
1 Assistant Professor, Department of Radiodiagnosis, Government Medical College and Hospital, Sector 32, Chandigarh, India
2 Associate Professor, Department of Pediatrics, Government Medical College and Hospital, Sector 32, Chandigarh, India
3 Consultant Pediatrician, Jain Medicity, Bikaner, Rajasthan, India
|Date of Web Publication||18-Jun-2019|
Dr. Roosy Aulakh
Department of Pediatrics, Government Medical College and Hospital, Sector 32, Chandigarh
Source of Support: None, Conflict of Interest: None
| Abstract|| |
Congenital heart diseases, hemolytic anemia, collagen vascular diseases, and neurometabolic disorders are known to be associated with the development of arterial ischemic stroke (AIS) in children. However, not all the children with the aforementioned conditions develop AIS. Hence, the possibility of interplay of various predisposing factors in children with inherent underlying medical conditions seems likely. Trauma, infections, and thrombophilic risk factors are well known to predispose to the development of AIS in children. Congenital hypoplasia of internal carotid artery (HICA) is a rare disorder in which patient may remain asymptomatic or may present with symptoms due to cerebrovascular insufficiency or compression by collateral vessels. We report a 7-year-old boy who presented with AIS and had a history of two transient ischemic attacks in the past 2 years. He was diagnosed to have congenital HICA. However, further evaluation revealed the presence of protein S deficiency as well. This case reemphasizes the need for investigation into multifactorial causation of pediatric AIS in every case.
Keywords: Arterial ischemic stroke, hypoplasia of internal carotid artery, protein S deficiency, thrombophilia, transient ischemic stroke
|How to cite this article:|
Gupta R, Aulakh R, Tiwari A. Arterial ischemic stroke in a child with internal carotid artery hypoplasia and protein S deficiency. J Pediatr Neurosci 2019;14:52-4
| Introduction|| |
Underlying medical conditions such as congenital heart diseases, hemolytic anemia, collagen vascular diseases, and neurometabolic disorders are well known to be associated with the development of arterial ischemic stroke (AIS) in children. However, not all the children with the aforementioned conditions develop AIS. Hence, the possibility of interplay of various predisposing factors in children with inherent underlying medical conditions seems likely. Haywood et al. (2005) and Kenet et al. (2010) have highlighted the association of both congenital and acquired thrombophilia with pediatric AIS through a meta-analysis and systematic review of observational studies. We report a 7-year-old boy who presented with AIS and had a history of two transient ischemic attacks (TIAs) in the past 2 years. He was diagnosed to have congenital hypoplasia of internal carotid artery (HICA) and on further evaluation was also found to have protein S deficiency. This case reemphasizes the need for investigation into multifactorial causation of pediatric AIS in every case.
| Case Report|| |
A 7-year-old developmentally normal boy presented to the pediatric emergency department of our hospital with a complaint of sudden onset of weakness of right upper and lower limbs for the past 1 day. No history of fever, rash, recent immunization, vomiting, loose stools, headache, seizures, trauma, altered behavior, or regression of milestone was present. Past history revealed two similar episodes of sudden-onset right-sided weakness each lasting 4–6h with spontaneous recovery in the last 1 year. The child was not on any regular medications. No family history of stroke was present. On examination, higher mental functions were intact with no cranial nerve deficit. Bilateral muscle mass was equal and muscle tone was normal. Muscle power was reduced (3/5) in both right upper and lower limbs with extensor right plantar reflex. No meningeal signs were present. Vitals and anthropometric measurements were within normal range for age. Routine blood investigations including C reactive protein, erythrocyte sedimentation rate, and lipid profile were normal. Antinuclear antibody, antineutrophil cytoplasmic antibody, and echocardiography were noncontributory. Workup for disseminated intravascular coagulation was normal.
Magnetic resonance imaging (MRI) of brain revealed patchy small acute ischemic foci involving deep gray matter nuclei and cortex in left cerebral hemisphere with small caliber left ICA showing normal wall thickness [Figure 1]A and [Figure 2]A. Computed tomography angiography (CTA) revealed hypoplastic left ICA from its origin with small left bony carotid canal [Figure 1]B. Left fetal posterior communicating artery (PCoM) was seen reconstituting left middle cerebral artery (MCA), which was small in caliber. Left ICA was seen continuing as ophthalmic artery. Carotid Doppler study revealed small-caliber left common carotid artery and ICA having normal wall thickness and slightly reduced peak systolic velocity with normal waveform. Possibility of vasculitic infarcts with ipsilateral ICA hypoplasia was kept.
|Figure 1: (A) MRA (maximum intensity projection) and (B) CTA (volume rendering technique) images, respectively, showing hypoplastic left ICA with reconstitution of flow in left MCA and anterior cerebral artery (ACA) from left PCoM. Left MCA, ACA, and their branches are small in caliber with paucity of M4 branches of MCA|
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|Figure 2: Axial fluid-attenuated inversion recovery images show infarcts (A) left cortex and (B) deep gray matter nuclei. (C) Follow-up scan after 11 months—T2-weighted axial image shows left-sided atrophy with gliosis|
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Further, in view of recurrent TIAs and AIS, complete thrombophilic workup was carried out. It revealed protein S deficiency (47.7% and 49.5% on two separate occasions, normal range, 70%–148%). Rest of the thrombophilia workup including protein C assay (chromogenic), antithrombin assay (chromogenic), anticardiolipin antibody, anti-beta-1 glycoprotein antibody, and deoxyribonucleic acid (DNA) testing for Factor V Leiden was normal. Protein S levels of the child’s parents were normal. The child was started on aspirin and at discharge, residual right hemiparesis was present. Follow-up MRI scan after approximately 11 months revealed resolution of previous lesions with gliosis and mild volume loss in left cerebral hemisphere and residual encephalomalacic changes in left basal ganglia and deep watershed zone [Figure 2]B. Mild prominence of left lateral ventricle was also noted.
| Discussion|| |
Pediatric AISs have significant morbidity and mortality. Various underlying medical conditions such as congenital heart diseases, hemolytic anemia, collagen vascular diseases, and neurometabolic disorders are well known to be associated with the development of pediatric AIS. Over the years, investigators have confirmed to the role of thrombophilic risk factors in predisposition to the development of AIS. However, the overall impact of thrombophilic risk factors on the outcome and recurrence risks of pediatric AIS is still unknown.
Congenital HICA is a rare clinical entity. Less than 200 cases of ICA agenesis or hypoplasia have been reported till date. Development of good cerebral collateral circulation usually prevents development of symptoms and may be picked up as an incidental finding during neuroimaging for other indication(s). Headaches, seizures, pulsatile tinnitus, Horner’s syndrome, and TIAs have been reported in patients with HICA. Posterior fossa brain malformations, Hemangiomas, Arterial lesions, Cardiac abnormalities/aortic coarctation, and Eye (PHACE) abnormalities, Goldenhar syndrome, and Klippel–Feil syndrome have also been reported in association with hypoplasia or agenesis of ICA. Significantly higher incidence (27.9%) of cerebral aneurysms have been reported in patients above 30 years with congenital agenesis or hypoplasia of ICA as compared to an incidence of 2%–4% in the general population, suggesting the possibility of aneurysms being acquired rather than congenital. CTA, magnetic resonance angiography (MRA), and digital subtraction angiography are commonly used modalities to make the diagnosis. Given the asymptomatic and congenital nature of carotid agenesis or hypoplasia, no treatment is necessary or possible to reestablish the ICA. However, screening for the development of collaterals may be carried out with MRA.
Thrombophilia has been documented to be a risk factor for venous thromboses but its association with arterial thromboses is still debatable. Although many researchers believe that thrombophilias have significant role in AIS and as they affect relatively younger population, screening for inherited thrombophilic risk factors and subsequent treatment is justified, another group of researchers is of the opinion that if any association does exist between inherited thrombophilias and AIS, then it is a weak one., They thus advocate that cost–benefit ratio of routine screening for inherited thrombophilias to establish causality in AIS is high and long-term treatment with anticoagulants is unnecessary or inappropriate based on high risk–benefit ratio.
Recurrent transient ischemic strokes (TIAs) and AIS in a child with HICA along with protein S deficiency have not been reported in literature. HICA is well known to present with both TIAs and AIS, whereas the role of inherited thrombophilias is still debatable with relatively more evidence favoring its role rather than denying it. However, more studies are required to investigate the role of thrombophilias in recurrent cerebrovascular events and the impact on long-term outcomes, if any.
This case lends support to multifactorial causation of pediatric AIS. It emphasizes the need for holistic workup of such cases even when one or more causative condition/disorder is already known or diagnosed. Multifactorial causation, if confirmatively proved, would imply combination of various treatment modalities to significantly reduce future recurrence risk of AIS in children with first AIS or even first TIA.
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Conflicts of interest
There are no conflicts of interest.
| References|| |
Haywood S, Liesner R, Pindora S, Ganesan V. Thrombophilia and first arterial ischaemic stroke: a systematic review. Arch Dis Child 2005;90:402-5.
Kenet G, Lütkhoff LK, Albisetti M, Bernard T, Bonduel M, Brandao L, et al
. Impact of thrombophilia on risk of arterial ischemic stroke or cerebral sinovenous thrombosis in neonates and children: a systematic review and meta-analysis of observational studies. Circulation 2010;121:1838-47.
Li S, Hooda K, Gupta N, Kumar Y. Internal carotid artery agenesis: a case report and review of literature. Neuroradiol J 2017;30:186-91.
Zink WE, Komotar RJ, Meyers PM. Internal carotid aplasia/hypoplasia and intracranial saccular aneurysms: series of three new cases and systematic review of the literature. J Neuroimaging 2007;17:141-7.
Soare AM, Popa C. Deficiencies of proteins C, S and antithrombin and factor V Leiden and the risk of ischemic strokes. J Med Life 2010;3:235-8.
Morris JG, Singh S, Fisher M. Testing for inherited thrombophilias in arterial stroke: can it cause more harm than good? Stroke 2010;41:2985-90.
[Figure 1], [Figure 2]