Pes Kavus ve Charcot Marie Tooth Hastalığı: Olgu Sunumu ve Literatürün Gözden Geçirilmesi Pes Cavus and Charcot Marie Tooth Disease: A Case Report and Brief Review of the Literature Pes Cavus and Charcot Marie Tooth Disease / Pes Kavus ve Charcot Marie Tooth Hastalığı Levent Ediz1, Özcan Hız1, Mehmet Fethi Ceylan2, Murat Toprak1, Yasemin Özkan1 1Department of Physical Medicine And Rehabilitation, 2Department of Orthopaedics, Yüzüncü Yıl University Medical Faculty, Van, Turkey. Özet Abstract Charcot-Marie-Tooth (CMT) hastalığı hem genetik hem de klinik Charcot-Marie-Tooth (CMT) is a disease that is highly heteroge- olarak oldukça heterojen bir hastalıktır. Tanı için klinik ve elek- neous, both clinically and genetically. Clinical and electrophysiologi- trofizyolojik veriler esastır. CMT li çocuklar erken yaştan itibaren cal data are essential for diagnosis. Children with CMT experience edinilmiş ayak zayıflığı, kontraktür ve deformiteler (pes kavus ve acquired foot weakness, contracture and deformity (pes cavus and çekiç parmaklar) geliştirebilirler. CMT de ayak ve ayak bileğini hammer toes) from an early age. Early intervention targeting the hedef alan erken girişimler uzun dönem özürlülüğü önleyebilir. foot and ankle may prevent long-term disability in CMT. Here we Burada biz sonradan edinilmiş pes kavuslu ve çekiç parmaklı bir present a CMT patient with acquired pes cavus and hammer toes CMT hastasını sunmakta ve kısaca CMT nin tanısı, tedavisi ve re- and review the literature briefly for diagnosis, treatment, and re- habilitasyonu için literatür taraması yapmaktayız. Sonuç olarak biz habilitation of CMT. As a result we conclude that CMT should also sonradan edinilmiş pes kavus ve çekiç parmağın ayırıcı tanısında come into mind in the differential diagnosis of acquired pes cavus CMT nin de akla gelmesi kanısındayız. and hammer toes. Anahtar Kelimeler Keywords Pes Kavus, Çekiç Parmak, Charcot Marie Tooth Hastalığı. Pes Cavus, Hammer Toe, Charcot Marie Tooth Disease. DOI: 10.4328/JCAM.293 Received: 22.06.2010 Accepted: 12.07.2010 Printed: 01.09.2011 J Clin Anal Med 2011;2(3):149-5 1 Corresponding Author: Özcan Hız, Yüzüncü Yıl University Medical Faculty, Department of Physical Medicine And Rehabilitation, Van, 65100, Turkey. Phone:+905053696340 · E-mail: [email protected] 140 | Journal of Clinical and Analytical Medicine Journal of Clinical and Analytical Medicine | 149 Pes Cavus and Charcot Marie Tooth Disease / Pes Kavus ve Charcot Marie Tooth Hastalığı Introduction IntroductionExamination revealed bilateral pes cavus, hammer toes (FigureExamination revealed bilateral pes cavus, hammer toes (Figure The hereditary motor and sensory neuropathies (HMSN) alsoThe hereditary1a, 1b) andmotor poor and grip sensory strength, neuropathies with thinning (HMSN) of the left also hand 1a,and 1b) and poor grip strength, with thinning of the left hand and called Charcot-Marie-Tooth disease (CMT) describe a spectrumcalled of Charcot-Marie-Toothdistal forearm musculature. disease (CMT)He had describereduced astrength spectrum in ofthe lowerdistal forearm musculature. He had reduced strength in the lower slowly progressive inherited disorders affecting peripheral motorslowly progressiveextremities, inheritedatrophy ofdisorders the intrinsic affecting left handperipheral muscles, motor decreased extremities, atrophy of the intrinsic left hand muscles, decreased and sensory nerves. The underlying pathophysiology is a specificand sensory deep nerves.tendon reflexesThe underlying in the lowerpathophysiology extremities, isand a specificdifficulty deepwalk- tendon reflexes in the lower extremities, and difficulty walk- mutation in one of several myelin genes that results in compromisemutation ing in onone his of severalheels. Sensationmyelin genes was that diminished results in in compromise the left hand ingand on his heels. Sensation was diminished in the left hand and of the myelin integrity [1]. It is classified according to clinical offea the- myelinfeet to integrity temperature, [1]. It pinprick, is classified and accordingvibration. toTone clinical was feanormal- feet in to temperature, pinprick, and vibration. Tone was normal in tures, genetic inheritance, and electrophysiological and histopathotures,- geneticthe upper inheritance, extremities and butelectrophysiological was increased at theand ankles.histopatho He -had thedif- upper extremities but was increased at the ankles. He had dif- logical findings. The Dyck classification developed in the logical1970s findings.ficulty maintaining The Dyck balance.classification Upon neurologicaldeveloped in examination, the 1970s thereficulty maintaining balance. Upon neurological examination, there subdivided the HMSN (CMT) into types 1 through 7 based uponsubdivided was themild HMSN weakness (CMT) (4/5) into in kneetypes flexion1 through and 7 extension,based upon and anklewas mild weakness (4/5) in knee flexion and extension, and ankle the clinical and electrophysiologic features [2]. The prevalencethe of clinical dorsoflexion and electrophysiologic and planter flexion features were [2]. 3/5, The and prevalence left hand ofdorsiflexion dorsoflexion and planter flexion were 3/5, and left hand dorsiflexion CMT ranges from a rate of 8–41 per 100,000 people dependingCMT on rangeswas 1/5. from Atrophy a rate ofwas 8–41 noted per in 100,000 intrensic people feet, left depending hand and on peroneal was 1/5. Atrophy was noted in intrensic feet, left hand and peroneal the geographical region of origin [3]. The most common subtypesthe geographical muscle groups. region Nerve of origin conduction [3]. The velocity most common measurements subtypes disclosed muscle groups. Nerve conduction velocity measurements disclosed are CMT1 (demyelinating with autosomal dominant transmission)are CMT1 marked (demyelinating slowing in bothwith theautosomal left radial dominant and left transmission)median and the bilatmarked- slowing in both the left radial and left median and the bilat- and CMT2 (axonal and usually dominant). CMT1A is the mostand CMT2eral tibial(axonal nerves. and usuallyThe left dominant). radial sensory, CMT1A left medianis the mostsensory, eralleft tibial nerves. The left radial sensory, left median sensory, left common subgroup which results from the duplication of a genomiccommon ulnar subgroup sensory, which and resultsbilateral from sural the sensory duplication latencies of a genomicwere prolonged, ulnar sensory, and bilateral sural sensory latencies were prolonged, fragment that encompasses the PMP22 gene on chromosomefragment 17 with that decreased encompasses amplitudes the PMP22 (demyelinating gene on chromosomeform with low 17 NCVs.). with decreased amplitudes (demyelinating form with low NCVs.). [4]. CMT1A affects 60 to 80% of the general CMT population [4].[5]. CMT1AInvestigation affects 60 with to 80% electromyography of the general CMTrevealed population minimal [5]. voluntary Investigation with electromyography revealed minimal voluntary The wide range of foot/ankle manifestations in CMT1A compliThe- wideactivity range in of the foot/ankle foot intrensec manifestations muscles bilaterally in CMT1A and compli left hand- musactivity- in the foot intrensec muscles bilaterally and left hand mus- cates the assessment, diagnosis and therapy. Children with CMT1Acates thecles. assessment, There was diagnosis no evidence and therapy.of conduction Children block. with We CMT1A diagnosed cles. the There was no evidence of conduction block. We diagnosed the experience foot weakness, contracture and deformity, pes cavusexperience patient foot as weakness, HSMN (CMT) contracture according and to deformity, the clinical pes and cavuselectrophysi patient- as HSMN (CMT) according to the clinical and electrophysi- from an early age [6]. The disease is characterized by weakness fromand an ologicalearly age findings. [6]. The disease is characterized by weakness and ological findings. atrophy of the distal muscle groups of the limbs, gait disturbance,atrophy of the distal muscle groups of the limbs, gait disturbance, impaired sensation in the hands and feet, decreased and/or absentimpaired Discussion sensation in the hands and feet, decreased and/or absent Discussion deep tendon reflexes, and skeletal deformities such as pes cavusdeep and tendonThe pesreflexes, cavus andfoot skeletal appears deformities in childhood such as as a pescomplex cavus deformity.and The pes cavus foot appears in childhood as a complex deformity. hammer toes. Sensory loss of all modalities is seen [7]. Pes cavushammer While toes. Sensorythe etiology loss mayof all occasionally modalities isbe seen idiopathic, [7]. Pes its cavus appearance While the etiology may occasionally be idiopathic, its appearance is thought to be an almost universal manifestation of CMT1A, paris thought- is oftento be anthe almost initial universal manifestation manifestation of a progressive of CMT1A, neuromuscular par- is often the initial manifestation of a progressive neuromuscular ticularly in older children and adults [6,8]. In previous studies, ticularlypes disorder. in older Thechildren deformity and adults presents [6,8]. significant In previous difficulties studies, pes both thedisorder. pa- The deformity presents significant difficulties both the pa- cavus was apparent in early childhood in only 11-33 % of cases,cavus but wastient apparent and the in physiotherapy early childhood stuff. in only The 11-33symptomatic % of cases, pes butcavus foottient and the physiotherapy stuff. The symptomatic pes cavus foot it increased to 62.5-80%