CASE REPORT
Year : 2020 | Volume
: 9 | Issue : 4 | Page : 160--162
Co-existence of russell–silver syndrome with arnold–chiari type 1: A new syndrome or just an association
Joydeep Das1, Krishnendu Choudhury1, Shweta Kothari2, Navneet Jeevan Nayek1,
1 Department of Pediatrics, Jagannath Gupta Institute of Medical Sciences, Kolkata, WB, India
2 Department of Radiology, Jagannath Gupta Institute of Medical Sciences, Kolkata, WB, India
Correspondence Address:
Joydeep Das
Flat 1F, Natural Top, 77A, Christopher Road, Kolkata - 700 046, West Bengal
India
Abstract
Hemihypertrophy is not uncommon in pediatrics, a triad of short stature of prenatal onset, skeletal asymmetry, and clinodactyly is characteristic of Russell–Silver syndrome. Association of posterior fossa malformation of Chiari Type 1 with whole length syringomyelia is not reported in literature. We present a case with a combined feature of both syndromes.
How to cite this article:
Das J, Choudhury K, Kothari S, Nayek NJ. Co-existence of russell–silver syndrome with arnold–chiari type 1: A new syndrome or just an association.J Pediatr Assoc India 2020;9:160-162
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How to cite this URL:
Das J, Choudhury K, Kothari S, Nayek NJ. Co-existence of russell–silver syndrome with arnold–chiari type 1: A new syndrome or just an association. J Pediatr Assoc India [serial online] 2020 [cited 2023 Oct 2 ];9:160-162
Available from: http://www.jpai.in//text.asp?2020/9/4/160/333368 |
Full Text
Introduction
Hemihypertrophy is the asymmetric overgrowth of any part or whole half of the body. It may be due to excessive overgrowth of soft tissue, obstructed lymphatics, arteriovenous malformation, or skeletal. When there is both soft tissue and skeletal overgrowth in one side of the body, associated with clinodactyly, café-Au-lait spot and short stature of prenatal onset; sparing head circumference, clinical diagnosis of Russell–Silver Syndrome becomes obvious.[1] The majority of cases are sporadic and the rest are due to uniparental disomy of chromosome number 11p15 or 7 p11 in roughly 50% of cases.[1]
Association of cerebellar tonsillar herniation of more than 12 mm into the cervical cord with whole length syringomyelia is unique and not described earlier in literature. This association is called Arnold–Chiari malformation Type 1,[2] the cause of which is unknown apart from few hypothesis. Co-existence of these two syndromes is unknown and our idea of this manuscript is to highlight this association.
Case Report
A girl aged fourteen years was admitted in our hospital with long standing diffuse headache, exacerbated with cough but no difficulty of vision for last 10 years. She was born as term intrauterine growth retardation with a birth weight of 2.1 kg. Examination showed triangular facies, few café-au lait spots over the trunk, and clinodactyly of both fifth fingers. The left side of the body is hypertrophied [Figure 1], [Figure 2], [Figure 3] with a pes cavus of the left feet. Asymmetric hypertrophy of both feet is such that she could not wear the same size shoes. Her height is 124 cm, weight is 24 kg, both are <5th centile, and HC 49.7 cm, 80th centile. Forearm circumference of the left upper limb 6 cm from the lateral epicondyle of humerus is 17 cm, whereas the right upper limb at the same point is 14 cm. Similarly, mid-thigh circumference of the left lower limb is 26.5 cm, whereas the right lower limb at the same point is 24.5 cm. Leg length measured from symphysis pubis to end of medial malleoli of the left lower limb is 60 cm, whereas in the right side, it is 57 cm. X-ray of both leg and forearm showed significant bone hypertrophy. To evaluate the cause of headache with cough exacerbation, magnetic resonance imaging (MRI) of the brain, [Figure 4], was done which showed cerebellar tonsillar herniation of more than 12 mm and syringomyelia of the whole length of the spinal cord [Figure 5]. Cross-section of the upper dorsal spine in MRI, [Figure 6], showed almost no to minimal spinal gray matter due to compression by fluid-filled syrinx. Sensory system examination showed diminished pain, temperature, light touch, and vibration sensation of all four limbs, more in lower limbs. However, proprioception and deep pressure seem intact.[3] Examination of motor system showed 4/5 power in both upper and lower limbs with reduced Deep Tendon Reflex (DTR).{Figure 1}{Figure 2}{Figure 3}{Figure 4}{Figure 5}{Figure 6}
Discussion
Short stature, triangular facies, fifth finger clinodactyly, café-au-lait spot, and prominent forehead with asymmetric body habitus constitute major features of Silver–Russell syndrome.[1] Asymmetric limb hypertrophy is a part of hemihypertrophy of Russell–Silver syndrome. Diminished pain, crude touch, temperature, deep pressure, and preservation of proprioception, vibration, and light touch signify central canal syndrome.[3],[4] As the process starts very early in life and progress may be very slow, the funicular pain of central canal dilatation is almost nil. The compression of the corticospinal tract and posterior column is very minimal by syrinx as it occupies the outermost part of the spinal canal. Formation of syrinx in Chiari Type 1 malformation is complex; however, one of the established theories is Gardner's hydrodynamic theory,[5] in which “water hammer “ like transmission of pulsatile cerebrospinal fluid (CSF) pressure hits the central canal during each act of cardiac systole due to partial blockage and obstruction of CSF pathway at foramen magnum by herniated tonsil. The dilatation of the central canal and the progress of syrinx are very slow which perhaps make neural tissue adaptive and less amount of symptoms as compared to the size of syrinx.
The association of Russell–Silver syndrome with Chiari Type 1 malformation is very rare, and only a few cases are reported in literature; our case will make the reader think about a new entity and mandatory evaluation of craniocervical junction by imaging.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
References
| 1 | Jones KL, Jones MC, Campo MD. Russel-Silver syndrome. In: Smiths Recognizable Pattern of Human Malformation. 7th ed. Expert Consult: Elsevier Publications; 2013. p. 128. |
| 2 | Blaser SI, Osborn AG. Chiari 1, section 1: Congenital malformations. In: Diagnostic Imaging Brain. 3rd ed. Expert Consult: Elsevier publications; 2016. p. 8. |
| 3 | Holly LT, Batzdorf U. Chiari malformation and syringomyelia. J Neurosurg Spine 2019;31:619-28. [Last accessed on 2021 Jan 30]. doi: 10.3171/2019.7.SPINE181139. |
| 4 | Mora JR, Rison RA, Beydoun SR. Chiari malformation type I with cervicothoracic syringomyelia masquerading as bibrachial amyotrophy: A case report. J Med Case Rep 2015;9:11. |
| 5 | Gardner WJ. Hydrodynamic mechanism of syringomyelia: Its relationship to myelocele. J Neurol Neurosurg Psychiatry 1965;28:247-59. |
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