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Feil Syndrome: a Rare Clinical Case and Literature Review

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Feil Syndrome: a Rare Clinical Case and Literature Review Hirurgia Pozvonochnika 2021;18(1):6–13 E.V. Petrova et al., 2021 Staged surgical treatment of brachioplexopathy in an adolescent with Klippel – Feil syndrome: a rare clinical case and literature review E.V. Petrova1, O.E. Agranovich1, M.V. Savina1, E.L. Gabbasova1, V.P. Snishchuk1–3, A.Yu. Mushkin2, 4 1H. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma Surgery, St. Petersburg, Russia 2St. Petersburg Research Institute of Phthisiopulmonology, St. Petersburg, Russia 3Leningrad Regional Children’s Clinical Hospital, St. Petersburg, Russia 4Pavlov First Saint Petersburg State Medical University, St. Petersburg, Russia Klippel – Feil syndrome is a congenital malformation, the leading component of which is a violation of segmentation of the cervical ver- tebral bodies. The syndrome can be combined with other skeletal anomalies: skull asymmetry, scoliosis, high shoulder blades, and cervi- cal ribs. Treatment of the syndrome is usually symptomatic; indications for surgical treatment are progressive neurological disorders and persistent pain syndrome, which usually develop due to instability of unblocked segments, or neurogenic pain. A clinical case of treatment of a 17-year-old patient with Klippel – Feil syndrome who developed a picture of severe upper limb monoparesis during three years due to compression of the brachial plexus associated with cervical ribs is presented. Decompression of the brachial plexus was performed, which led to rapid relief of pain syndrome and gradual partial regression of motor disorders. Due to incomplete restoration of the gripping func- tion, tendon-muscle plasty of the right hand was performed, which significantly improved the possibility of self-care. The results of radia- tion and staged neurophysiological studies are described, as well as a review of the literature on the Klippel – Feil syndrome. Key Words: Klippel-Feil syndrome, brachial plexus, plexopathy, cervical ribs, surgical treatment. Please cite this paper as: Petrova EV, Agranovich OE, Savina MV, Gabbasova EL, Snishchuk VP, Mushkin AYu. Staged surgical treatment of brachioplexopa- thy in an adolescent with Klippel – Feil syndrome: a rare clinical case and literature review. Hir. Pozvonoc. 2021;18(1):6–13. In Russian. DOI: http://dx.doi.org/10.14531/ss2021.1.6-13. Klippel – Feil syndrome (KFS) is a con- Some patients with KFS (10–15 %) At the age of 13 years, the patient genital spine malformation whose have cervical ribs, which may also cause developed hearing loss. An audiogram leading component is improper seg- neurological symptoms caused by the showed grade 3 mixed hearing loss in mentation of the cervical vertebral brachial plexus involvement [6]. The the right ear. At the same age, the patient bodies. This syndrome is characterized unique nature of clinical manifesta- started experiencing gradually progress- by the typical triad of clinical signs: tions and treatment used in these cases ing muscle weakness in the right hand short neck, restricted neck movement allowed us to present our case report. and alteration in its muscle contour. Nei- (first of all, rotation), and low hair- A male patient S. was first admitted ther episodes of numbness in the hand line at the back of the head (the so- to clinical center at the age of 17 years. nor color changes were observed. Ortho- called pterygium-like effect or webbed He complained of restricted mobility of pedic examination revealed no indica- neck) [1]. Another typical feature of the cervical and thoracic spine, spinal tions for surgical treatment; the symp- KFS involves a variety of concomi- deformity, hearing loss in the right ear, toms were considered to be caused by tant abnormalities of the skeleton (the and muscle weakness in the right hand the concomitant spinal cord pathology viscerocranium, scapulae, thoracic and gradually progressing over the past three (see below). lumbar vertebrae, and ribs), as well as years. Examination of the patient at the age a combination of aesthetic, orthopedic, When being a newborn, the patient of 17 years showed that his head was and neurological complications. The was diagnosed with uranostaphyloschi- tilted in the antero-leftward direction. reasons for neurological disturbances sis and underwent an uraniscoplasty sur- The range of motion in the cervical spine in patients with KFS usually include the gery at the age of 6 years. Child’s motor in the sagittal, frontal, and horizontal concomitant congenital pathology of the and speech development was normal. He planes was no more than 5°. The patient spinal cord (syringomyelia, syringobulbia, had no head injuries, seizures, or synco- had significant facial asymmetry and low split cord malformation, and cysts) pal episodes. The patient was diagnosed hairline at the back of his head; chest and spinal stenosis at the level of the with KFS at the age of 4 years according excursion and mobility of the thoracic craniovertebral junction or an interblock to typical clinical signs; the diagnosis was spine were limited; the patient’s trunk segment with preserved mobility [2–5]. verified radiologically. was shifted to the left in the frontal plane 6 Spine deformities Hirurgia Pozvonochnika 2021;18(1):6–13 E.V. Petrova et al. Staged surgical treatment of brachioplexopathy in an adolescent with Klippel – Feil syndrome (Fig. 1a, b). The patient had S-shaped cer- ger flexion was 3. Deep, surface, and pain in M response from the m. extensor indi- vicothoracic scoliosis, as well as elevated sensibility was preserved. cis proprii. right shoulder girdle and scapula. The Palpation revealed an osseous struc- Needle EMG of m. trapezius (inner- upper extremities had an equal length; ture in the supraclavicular area; the pal- vation of the C2–C4 segments) and no abnormalities were revealed for the pation attempt caused sharp pain radiat- m. paraspinalis (C7) revealed no left upper extremity. The lower extrem- ing to the right hand. abnormalities on the right side. There ities had an equal length; full range of Additional examination was carried were signs of complete denervation of passive and active motion in the hip and out. Stimulation electroneuromyogra- m. abductor pollicis brevis (segmental ankle joints was preserved. The neutral phy (ENMG) of the upper limbs was innervation of C8–T1), existing severe heel position was preserved; no abnor- performed using a NeuroMVP-4 device. denervation changes with signs of mini- mal plantar reflexes were identified. No Excitability and conduction in sensory mally preserved residual innervation of pelvic organ dysfunction was revealed. and motor fibers of the upper limbs, as m. abductor digiti minini (C8–T1) and Status localis. Active and passive well as conduction in spinal roots, were m. ext. digitorum communis (С7–С8) on abduction of the shoulder joint, 120°; studied using the f-wave approach. Nee- the right side, and mild chronic denerva- range of motion for shoulder flexion, dle electromyography (EMG) was also tion/reinnervation changes in m. biceps 180°; range of motion for the elbow joint performed. brachii and m. deltoideus (С5–С6) on was physiologically normal. Neurologi- Stimulation of sensory fibers of the the right side. The EMG data were indica- cal examination revealed flaccid mono- median, ulnar, and radial nerves in the tive of severe disturbance of the middle paresis affecting the right side manifest- right hand elicited no sensory response. trunk (C7) and, to a greater extent, the ing itself as moderate forearm hypotro- Right-sided stimulation of the lateral inferior trunk (C8–T1) of the brachial phy, severe hypotrophy of interosseous cutaneous nerve of forearm reduced plexus (Fig. 2d) on the right side, with muscles of the hand and the thenar potential amplitude eightfold compared an emphasis on the disturbances in eminence; active extension in the wrist to that for the left hand (2 µV for the the innervation zone of the T1 nerve joint was limited; ape hand deformity of right hand vs. 16 µV for the left hand) root and signs of existing denervation the right hand was observed (Fig. 1c, d); and the speed of nerve impulse conduc- changes in muscles of the right fore- active extension of fingers on the right tion down to 30 m/s. Stimulation of the arm and hand, complete denervation hand was minimal, being possible only shoulder girdle at Erb’s point elicited a of m. abductor pollicis brevis; severe during wrist extension; function of the normal M response from m. deltoideus damage to sensory fibers, and mild opposable thumb was absent; active flex- and m. biceps brahii on the right side. extent of damage to motor fibers of ion was limited; bilateral hand grip was No M response from m. abductor pol- the superior trunk (C5–C6) of the bra- absent; interdigital, cylindrical, and hook licis brevis was detected after stimula- chial plexus on the right side, without grasp was preserved; score for muscle tion of motor fibers of the median nerve; loss of functional activity of m. biceps strength in the proximal regions and stimulation of the ulnar nerve resulted in brachii and m. deltoideus on the right forearm was 5; score for opposition and 82% reduction of the M response from side. ENMG revealed no signs of damage flexion of the thumb was 1–2; score for m abductor digiti minini compared to to motor neurons of the spinal cord and finger extension was 1; and score for fin- that for the left hand; and stimulation of motor nerve roots at the C2–C4 level or the radial nerve resulted in 91 % decline а b c d Fig. 1 The 17-year-old patient S. having Klippel – Feil syndrome (see explanation in the text) 7 Spine deformities Hirurgia Pozvonochnika 2021;18(1):6–13 E.V. Petrova et al. Staged surgical treatment of brachioplexopathy in an adolescent with Klippel – Feil syndrome the caudal direction, the vertebral bod- ies and lateral masses of five vertebrae were blocked leading to straightening of normal cervical lordosis and formation of the right-sided scoliosis curve (19°; Fig.
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