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An Egyptian patient with Schwartz-Jampel syndrome type I and new ocular findings
The Egyptian Journal of Medical Human Genetics xxx (2017) xxx–xxx
Contents lists available at ScienceDirect
The Egyptian Journal of Medical Human Genetics journal homepage: www.sciencedirect.com
Case Report
An Egyptian patient with Schwartz-Jampel syndrome type I and new ocular findings Solaf M. Elsayed ⇑, Radwa Gamal Genetics Unit, Children’s Hospital, Ain Shams University, Egypt
a r t i c l e
i n f o
Article history: Received 12 March 2017 Accepted 4 June 2017 Available online xxxx Keywords: Schwartz-Jampel Myotonia skeletal ocular Retina
a b s t r a c t Schwartz Jampel syndrome is a rare autosomal recessive disease with distinctive clinical features, myotonia and skeletal deformities. Diagnosis is based on clinical findings, electromyogram showing myotonia and radiological findings of platyspondyly, vertebral coronal cleft and metaphyseal and epiphyseal changes of long bones. Ocular manifestation is a part of the syndrome and include blepharospasm, cataract, subluxation of lens and myopia. The disease is caused by mutations of HSPG2 gene at chromosome 1p36.1 causing deficiency of Perlecan protein and manifested as mild childhood type (type IA) and severe congenital type (type IB). The aim of this report is to describe an Egyptian patient with Schwartz Jampel syndrome type IB and retinal pigment epithelial atrophy. As far as our knowledge, this ocular finding was not reported before. Ó 2017 Production and hosting by Elsevier B.V. on behalf of Ain Shams University. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
1. Introduction Schwartz Jampel syndrome (SJS) is a rare autosomal recessive syndrome first described by Oscar Shwartz and Robert Jampel in 1962 in two siblings with skeletal anomalies and myotonia [1] and therefore was described as osteo-chondro-muscular dystrophy or chondrodystrophic myotonia [2]. Patients of SJS have distinctive facial features caused mainly by the severe myotonia and apparent in the characteristic pursed lips and blepharospasm. Other ocular findings include juvenile cataract, lens subluxation and myopia. The aim of this report is to describe an Egyptian patient with SJS type IB and new ocular finding.
2. Case report A 3-year-old girl, the first in birth order of healthy nonconsanguineous Egyptian parents presented to our genetics clinic because of short stature and abnormal facial features that was noticed since birth. Family history revealed no similar cases and no other genetic disorders. The patient was delivered at full term by cesarean section after uncomplicated pregnancy with birth weight of 2.4 kg. She had limitation of movement of all joints Peer review under responsibility of Ain Shams University. ⇑ Corresponding author at: Medical Genetics Center, 27 A Baghdad St., Korba, Cairo, Egypt. E-mail address: [email protected] (S.M. Elsayed).
(which improved on physiotherapy) and bilateral inguinal hernias for which she had surgery at the age of 3 years. Upon examination at presentation, her weight was 8 kg (below the third percentile), length was 71 cm (below 3rd percentile), span was 64.5 cm and her skull circumference was 46 cm (10th percentile). The patient had global developmental delay (the most advanced motor skill was standing with moderate support while communication skills was composed of 50 single syllables), a fixed facial expression with low anterior hairline, hypertelorism, blepharophimosis, low set small ears, pursed lips, high arched palate, overcrowded teeth, micrognathia, short neck with prominent veins, pectus carinatum, kyphoscoliosis, bilateral clinodactyly, and bilateral limited movement in shoulders, elbows, hips and knees, Figs. 1 and 2. Abdominal examination revealed scars of previous bilateral inguinal hernias repair surgery. Neurologic examination showed generalized stiffness of all muscles. Chest, heart and genital examinations were normal. Complete blood count, liver function tests, calcium, phosphorus, alkaline phosphatase were all normal. Creatine phosphokinase (CPK) was 518 U/L (normal: 33–211 U/L). Pelvi-abdominal ultrasonography and Echocardiography showed no abnormalities. Bscan ultrasonography of both eyes revealed vitreous band in vitreous cavity freely mobile on kinetic scan. Visual evoked potentials (VEP) revealed poorly to moderately formed response indicating moderate to severe conduction dysfunction of the pre-chiasmal visual pathway of both eyes. Fundus examination revealed diffuse retinal pigment epithelium atrophy and mottling of the fundus with moderate attenuated vessels and pale optic disc more evident
http://dx.doi.org/10.1016/j.ejmhg.2017.06.001 1110-8630/Ó 2017 Production and hosting by Elsevier B.V. on behalf of Ain Shams University. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
Please cite this article in press as: Elsayed SM, Gamal R. . Egypt J Med Hum Genet (2017), http://dx.doi.org/10.1016/j.ejmhg.2017.06.001
2
S.M. Elsayed, R. Gamal / The Egyptian Journal of Medical Human Genetics xxx (2017) xxx–xxx
Fig. 1. Patient’s facial feature including pursed lips, micrognathia, low set ears, short neck, small chest with pectus carinatum.
on the left eye. Cytogenetic analysis revealed normal female karyotype. Electromyography (EMG) revealed myotonic discharges. Skeletal survey revealed a bell-shaped thoracic cavity with crowding of the ribs. Long bones were short with abnormal remodeling and bowing, irregular metaphysis with decreased bone density. Both iliac bones showed irregular outline with irregular shallow surface of acetabulum and poorly visualization femoral epiphysis and upward subluxation, Fig. 3. The spine showed platyspondyly with multiple vertebral anomalies in the form of coronal cleft and sacral dysplasia. There was also a lumbosacral scoliosis convex to the right, Fig. 4. This case description and figures were reported after parents’ consent.
3. Discussion The main diagnostic features of SJS are the myotonia together with the skeletal manifestations. Myotonia was suspected clinically in our patient because of the lack of facial expression, blepharospasm, pursed lips (due to tonic contractions of facial muscles) and generalized muscles stiffness. Then it was confirmed by the EMG findings of persistent spontaneous activity that wanes at rest. Muscle involvement in SJS is of major concern during anesthesia because of the risk of malignant hyperthermia and difficulties in tracheal intubation (as a result of microstomia and jaw muscle rigidity) [3]. Higher doses of muscle relaxants such as rocuronium may be required to facilitate tracheal intubation, probably because of the lowered degradation rate of acetylcholine [4]. The second diagnostic manifestation is the skeletal abnormalities which was evident in our patient by the short stature, pectus
Fig. 2. aakyphoscoliosis, prominent muscles and short limbsbilateral clinodactyly, and bilateral limited movement in shoulders, elbows, hips and knees,
carinatum, kyphoscoliosis, and joint contractures [5,6] and was confirmed by the characteristic radiological features of platyspondyly, coronal cleft of the vertebrae, kyphoscoliosis, dysplastic hips with dislocated femur and short long bones with metaphyseal and epiphyseal changes [6]. Motor delay is therefore expected in the majority of these patients, however; intellectual disability- like our patient- is reported in only 20% [7]. Ocular manifestations in SJS include narrow palpebral fissures, blepharospasm, microcornea, microphthalmia, lens subluxation, myopia, juvenile cataract, maldevelopment of eye lids and ptosis [8,9]. Unique unreported ocular feature in our patient was the diffuse retinal pigment epithelial atrophy with moderate attenuated vessels detected by fundus examination. Treatment of SJS patient is symptomatic with physical therapy, occupational therapy and surgical correction of ptosis, juvenile cataract and orthopedic manifestation if needed [3,10]. Myotonia may respond to carbamazepine if started in infancy also phenytoin and procainamide [11]. Botulinum toxin injection has reported to have good results for relieving blepharospasm in 2 sisters with SJS [12]. SJS is phenotypically heterogenous. Type 1A is recognized in childhood and has moderate skeletal dysplasia while type 1B is recognized at birth with more severe skeletal manifestation [13]. Our patient was more typical to type 1B. Both types are autosomal recessive and caused by mutation HSPG2 gene at 1p36.1 encoding Perlecan protein [13], a ubiquitous heparan sulfate proteoglycan that is secreted into basement membranes [14]. Perlecan in vitro
Please cite this article in press as: Elsayed SM, Gamal R. . Egypt J Med Hum Genet (2017), http://dx.doi.org/10.1016/j.ejmhg.2017.06.001
S.M. Elsayed, R. Gamal / The Egyptian Journal of Medical Human Genetics xxx (2017) xxx–xxx
3
Fig. 3. Chest and lower limbs X -ray showing a bell-shaped thoracic cavity with crowding of the ribs, shortening of the long bones with abnormal remodeling, abnormal shape of the iliac bones with irregular outline and irregular shallow surface of acetabulum. Also there is non -visualization of the femoral epiphysis with developmental dysplasia of the hip and upward femur subluxation. Irregular metaphysis with decreased bone density are also noted.
binds to acetylcholinesterase, and postulated that the perlecandystroglycan complex may function as an acceptor molecule for acetylcholinesterase at the neuromuscular junction [15]. Mutation in HSPG2 gene may result in reduced clustering of acetylcholinesterase at the neuromuscular junction and therefore higher concentration of acetylcholine enhancing a neuro-excitatory activity and myotonic discharge. However, this deficiency was not associated with spontaneous activity at rest on EMG in the diaphragm, suggesting that there are additional factors that are required to generate the activity seen in SJS [16]. Gastrointestinal bleeding has been recently reported in one patient with SJS and this was explained by that Perlecan has an important role in the stability of vascular endothelium and its deficiency results in reduction of vascular endothelium relaxation and basal membrane instability and eventually alteration of proper blood supply to the gastrointestinal tract [17]. Silverman-Handmaker type of dyssegmental dysplasia is a lethal allelic disorder to SJS with autosomal recessive inheritance. It is characterized by micromelia, micrognathia, cleft palate, joint contractures and complete absence of perlecan [18]. Although the same gene is involved in both diseases, it is considered as a different entity because the significant differences of the shape and size of the vertebral body (anisospondyly), the presence of cleft palate and because of the similarity of other segmental disorders like Rolland-Desbuquois type of dyssegmental dwarfism [19]. To conclude, SJS is a rare autosomal recessive disease involving both skeletal muscles and skeletal system with characteristic ocular manifestation of blepharospasm, cataract, subluxation of lens and in this report, retinal pigmental atrophy.
Fig. 4. Lateral view of the spine shows platyspondyly with multiple vertebral anomalies and lumbosacral kyphosis.
Conflict of interest The authors declared no potential conflicts of interests with respect to the authorship and/or publication of this article. References [1] Schwartz O, Jampel RS. Congenital blepharophimosis associated with a unique generalized myopathy. Arch Ophthal 1962;68:52–7. [2] Pascuzzi RM. Schwartz-Jampel Syndrome. Semin Neurol 1991;11:267–73. [3] Viljoen D, Beighton P. Schwartz-Jampel syndrome (chondrodystrophic myotonia). J Med Genet 1992;29:58–62. [4] Eikermann M, Bredendiek M, Schaper J, Hovel M, Peters J. Resistance to rocuronium in a child with Schwartz-Jampel syndrome type 1B. Neuropediatrics 2002;33:43–6. [5] Kozlowski K, Wise G. Spondylo-epi-metaphyseal dysplasia with myotonia. A radiographic study. Radiol Diagn 1974;15:817–24. [6] Horan F, Beighton P. Orthopaedic aspects of the SchwartzJampel syndrome. Bone joint Surg 1975;57:542–4. [7] Chandra SR, Issac TG, Shivaram S. Schwartz-Jampel syndrome. J Pediatr Neurosci 2015;10:169–71. [8] Lucci LM, Yen MT, Anderson RL, Hwang IP, Black RE. Orbicularis myectomy with levator advancement in Schwartz-Jampel syndrome. Am J Ophthalmol 2001;132:799–801. [9] Bastola P. Schwartz-Jampel syndrome, vol. 8. Kathmandu Univ Med J(KUMJ); 2010. p. 348–51.
Please cite this article in press as: Elsayed SM, Gamal R. . Egypt J Med Hum Genet (2017), http://dx.doi.org/10.1016/j.ejmhg.2017.06.001
4
S.M. Elsayed, R. Gamal / The Egyptian Journal of Medical Human Genetics xxx (2017) xxx–xxx
[10] Farrell SA, Davidson RG, Thorp P. Neonatal manifestations of Schwartz-Jampel syndrome. Am J Med Genet 1987;27:799–805. [11] Squires LA, Prangley J. Neonatal diagnosis of Schwartz-Jampel syndrome with dramatic response to carbamazepine. Ped Neurol 1996;15:172–4. [12] Vargel I, Canter HI, Topaloglu H, Erk Y. Results of botulinum toxin: an application of blepharsospasm Shwartz jampel syndrome. J Craniofac Surg 2006;17(4):656–60. [13] Giedion A, Boltshauser E, Briner J, Eich G, Exner G, Fendel H, et al. Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia. Eur J Pediatr 1997;156:214–23. [14] Nicole S, Davoine CS, Topaloglu H, Cattolico L, Barral D, Beighton P, et al. Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia). Nat Genet 2000;26:480–3.
[15] Peng HB, Xie H, Rossi SG, Rotundo RL. Acetylcholinesterase clustering at the neuromuscular junction involves perlecan and dystroglycan. J Cell Biol 1999;145:911–21. [16] Stum M, Girard E, Bangratz M, Bernard V, Herbin M, Vignaud A, et al. Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia. Hum Mol Genet 2008;17:3166–79. _ Karaog˘lu P, Yisß U, Kurul SH. Schwartz-Jampel syndrome with [17] Polat I, gastroduodenal bleeding. J Pediatr Neurosci 2016;11:255–7. [18] Arikawa-Hirasawa E, Le AH, Nishino I, Nonaka I, Ho NC, Francomano CA, et al. Structural and functional mutations of the perlecan gene cause SchwartzJampel syndrome, with myotonic myopathy and chondrodysplasia. Am J Hum Genet 2002;70:1368–75. [19] Fasanelli S, Kozlowski K, Reiter S, Sillence D. Dyssegemntal dysplasia (report of two cases with a review of literature. Skeletal Radiol 1985;14:173–7.
Please cite this article in press as: Elsayed SM, Gamal R. . Egypt J Med Hum Genet (2017), http://dx.doi.org/10.1016/j.ejmhg.2017.06.001
Contents lists available at ScienceDirect
The Egyptian Journal of Medical Human Genetics journal homepage: www.sciencedirect.com
Case Report
An Egyptian patient with Schwartz-Jampel syndrome type I and new ocular findings Solaf M. Elsayed ⇑, Radwa Gamal Genetics Unit, Children’s Hospital, Ain Shams University, Egypt
a r t i c l e
i n f o
Article history: Received 12 March 2017 Accepted 4 June 2017 Available online xxxx Keywords: Schwartz-Jampel Myotonia skeletal ocular Retina
a b s t r a c t Schwartz Jampel syndrome is a rare autosomal recessive disease with distinctive clinical features, myotonia and skeletal deformities. Diagnosis is based on clinical findings, electromyogram showing myotonia and radiological findings of platyspondyly, vertebral coronal cleft and metaphyseal and epiphyseal changes of long bones. Ocular manifestation is a part of the syndrome and include blepharospasm, cataract, subluxation of lens and myopia. The disease is caused by mutations of HSPG2 gene at chromosome 1p36.1 causing deficiency of Perlecan protein and manifested as mild childhood type (type IA) and severe congenital type (type IB). The aim of this report is to describe an Egyptian patient with Schwartz Jampel syndrome type IB and retinal pigment epithelial atrophy. As far as our knowledge, this ocular finding was not reported before. Ó 2017 Production and hosting by Elsevier B.V. on behalf of Ain Shams University. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
1. Introduction Schwartz Jampel syndrome (SJS) is a rare autosomal recessive syndrome first described by Oscar Shwartz and Robert Jampel in 1962 in two siblings with skeletal anomalies and myotonia [1] and therefore was described as osteo-chondro-muscular dystrophy or chondrodystrophic myotonia [2]. Patients of SJS have distinctive facial features caused mainly by the severe myotonia and apparent in the characteristic pursed lips and blepharospasm. Other ocular findings include juvenile cataract, lens subluxation and myopia. The aim of this report is to describe an Egyptian patient with SJS type IB and new ocular finding.
2. Case report A 3-year-old girl, the first in birth order of healthy nonconsanguineous Egyptian parents presented to our genetics clinic because of short stature and abnormal facial features that was noticed since birth. Family history revealed no similar cases and no other genetic disorders. The patient was delivered at full term by cesarean section after uncomplicated pregnancy with birth weight of 2.4 kg. She had limitation of movement of all joints Peer review under responsibility of Ain Shams University. ⇑ Corresponding author at: Medical Genetics Center, 27 A Baghdad St., Korba, Cairo, Egypt. E-mail address: [email protected] (S.M. Elsayed).
(which improved on physiotherapy) and bilateral inguinal hernias for which she had surgery at the age of 3 years. Upon examination at presentation, her weight was 8 kg (below the third percentile), length was 71 cm (below 3rd percentile), span was 64.5 cm and her skull circumference was 46 cm (10th percentile). The patient had global developmental delay (the most advanced motor skill was standing with moderate support while communication skills was composed of 50 single syllables), a fixed facial expression with low anterior hairline, hypertelorism, blepharophimosis, low set small ears, pursed lips, high arched palate, overcrowded teeth, micrognathia, short neck with prominent veins, pectus carinatum, kyphoscoliosis, bilateral clinodactyly, and bilateral limited movement in shoulders, elbows, hips and knees, Figs. 1 and 2. Abdominal examination revealed scars of previous bilateral inguinal hernias repair surgery. Neurologic examination showed generalized stiffness of all muscles. Chest, heart and genital examinations were normal. Complete blood count, liver function tests, calcium, phosphorus, alkaline phosphatase were all normal. Creatine phosphokinase (CPK) was 518 U/L (normal: 33–211 U/L). Pelvi-abdominal ultrasonography and Echocardiography showed no abnormalities. Bscan ultrasonography of both eyes revealed vitreous band in vitreous cavity freely mobile on kinetic scan. Visual evoked potentials (VEP) revealed poorly to moderately formed response indicating moderate to severe conduction dysfunction of the pre-chiasmal visual pathway of both eyes. Fundus examination revealed diffuse retinal pigment epithelium atrophy and mottling of the fundus with moderate attenuated vessels and pale optic disc more evident
http://dx.doi.org/10.1016/j.ejmhg.2017.06.001 1110-8630/Ó 2017 Production and hosting by Elsevier B.V. on behalf of Ain Shams University. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
Please cite this article in press as: Elsayed SM, Gamal R. . Egypt J Med Hum Genet (2017), http://dx.doi.org/10.1016/j.ejmhg.2017.06.001
2
S.M. Elsayed, R. Gamal / The Egyptian Journal of Medical Human Genetics xxx (2017) xxx–xxx
Fig. 1. Patient’s facial feature including pursed lips, micrognathia, low set ears, short neck, small chest with pectus carinatum.
on the left eye. Cytogenetic analysis revealed normal female karyotype. Electromyography (EMG) revealed myotonic discharges. Skeletal survey revealed a bell-shaped thoracic cavity with crowding of the ribs. Long bones were short with abnormal remodeling and bowing, irregular metaphysis with decreased bone density. Both iliac bones showed irregular outline with irregular shallow surface of acetabulum and poorly visualization femoral epiphysis and upward subluxation, Fig. 3. The spine showed platyspondyly with multiple vertebral anomalies in the form of coronal cleft and sacral dysplasia. There was also a lumbosacral scoliosis convex to the right, Fig. 4. This case description and figures were reported after parents’ consent.
3. Discussion The main diagnostic features of SJS are the myotonia together with the skeletal manifestations. Myotonia was suspected clinically in our patient because of the lack of facial expression, blepharospasm, pursed lips (due to tonic contractions of facial muscles) and generalized muscles stiffness. Then it was confirmed by the EMG findings of persistent spontaneous activity that wanes at rest. Muscle involvement in SJS is of major concern during anesthesia because of the risk of malignant hyperthermia and difficulties in tracheal intubation (as a result of microstomia and jaw muscle rigidity) [3]. Higher doses of muscle relaxants such as rocuronium may be required to facilitate tracheal intubation, probably because of the lowered degradation rate of acetylcholine [4]. The second diagnostic manifestation is the skeletal abnormalities which was evident in our patient by the short stature, pectus
Fig. 2. aakyphoscoliosis, prominent muscles and short limbsbilateral clinodactyly, and bilateral limited movement in shoulders, elbows, hips and knees,
carinatum, kyphoscoliosis, and joint contractures [5,6] and was confirmed by the characteristic radiological features of platyspondyly, coronal cleft of the vertebrae, kyphoscoliosis, dysplastic hips with dislocated femur and short long bones with metaphyseal and epiphyseal changes [6]. Motor delay is therefore expected in the majority of these patients, however; intellectual disability- like our patient- is reported in only 20% [7]. Ocular manifestations in SJS include narrow palpebral fissures, blepharospasm, microcornea, microphthalmia, lens subluxation, myopia, juvenile cataract, maldevelopment of eye lids and ptosis [8,9]. Unique unreported ocular feature in our patient was the diffuse retinal pigment epithelial atrophy with moderate attenuated vessels detected by fundus examination. Treatment of SJS patient is symptomatic with physical therapy, occupational therapy and surgical correction of ptosis, juvenile cataract and orthopedic manifestation if needed [3,10]. Myotonia may respond to carbamazepine if started in infancy also phenytoin and procainamide [11]. Botulinum toxin injection has reported to have good results for relieving blepharospasm in 2 sisters with SJS [12]. SJS is phenotypically heterogenous. Type 1A is recognized in childhood and has moderate skeletal dysplasia while type 1B is recognized at birth with more severe skeletal manifestation [13]. Our patient was more typical to type 1B. Both types are autosomal recessive and caused by mutation HSPG2 gene at 1p36.1 encoding Perlecan protein [13], a ubiquitous heparan sulfate proteoglycan that is secreted into basement membranes [14]. Perlecan in vitro
Please cite this article in press as: Elsayed SM, Gamal R. . Egypt J Med Hum Genet (2017), http://dx.doi.org/10.1016/j.ejmhg.2017.06.001
S.M. Elsayed, R. Gamal / The Egyptian Journal of Medical Human Genetics xxx (2017) xxx–xxx
3
Fig. 3. Chest and lower limbs X -ray showing a bell-shaped thoracic cavity with crowding of the ribs, shortening of the long bones with abnormal remodeling, abnormal shape of the iliac bones with irregular outline and irregular shallow surface of acetabulum. Also there is non -visualization of the femoral epiphysis with developmental dysplasia of the hip and upward femur subluxation. Irregular metaphysis with decreased bone density are also noted.
binds to acetylcholinesterase, and postulated that the perlecandystroglycan complex may function as an acceptor molecule for acetylcholinesterase at the neuromuscular junction [15]. Mutation in HSPG2 gene may result in reduced clustering of acetylcholinesterase at the neuromuscular junction and therefore higher concentration of acetylcholine enhancing a neuro-excitatory activity and myotonic discharge. However, this deficiency was not associated with spontaneous activity at rest on EMG in the diaphragm, suggesting that there are additional factors that are required to generate the activity seen in SJS [16]. Gastrointestinal bleeding has been recently reported in one patient with SJS and this was explained by that Perlecan has an important role in the stability of vascular endothelium and its deficiency results in reduction of vascular endothelium relaxation and basal membrane instability and eventually alteration of proper blood supply to the gastrointestinal tract [17]. Silverman-Handmaker type of dyssegmental dysplasia is a lethal allelic disorder to SJS with autosomal recessive inheritance. It is characterized by micromelia, micrognathia, cleft palate, joint contractures and complete absence of perlecan [18]. Although the same gene is involved in both diseases, it is considered as a different entity because the significant differences of the shape and size of the vertebral body (anisospondyly), the presence of cleft palate and because of the similarity of other segmental disorders like Rolland-Desbuquois type of dyssegmental dwarfism [19]. To conclude, SJS is a rare autosomal recessive disease involving both skeletal muscles and skeletal system with characteristic ocular manifestation of blepharospasm, cataract, subluxation of lens and in this report, retinal pigmental atrophy.
Fig. 4. Lateral view of the spine shows platyspondyly with multiple vertebral anomalies and lumbosacral kyphosis.
Conflict of interest The authors declared no potential conflicts of interests with respect to the authorship and/or publication of this article. References [1] Schwartz O, Jampel RS. Congenital blepharophimosis associated with a unique generalized myopathy. Arch Ophthal 1962;68:52–7. [2] Pascuzzi RM. Schwartz-Jampel Syndrome. Semin Neurol 1991;11:267–73. [3] Viljoen D, Beighton P. Schwartz-Jampel syndrome (chondrodystrophic myotonia). J Med Genet 1992;29:58–62. [4] Eikermann M, Bredendiek M, Schaper J, Hovel M, Peters J. Resistance to rocuronium in a child with Schwartz-Jampel syndrome type 1B. Neuropediatrics 2002;33:43–6. [5] Kozlowski K, Wise G. Spondylo-epi-metaphyseal dysplasia with myotonia. A radiographic study. Radiol Diagn 1974;15:817–24. [6] Horan F, Beighton P. Orthopaedic aspects of the SchwartzJampel syndrome. Bone joint Surg 1975;57:542–4. [7] Chandra SR, Issac TG, Shivaram S. Schwartz-Jampel syndrome. J Pediatr Neurosci 2015;10:169–71. [8] Lucci LM, Yen MT, Anderson RL, Hwang IP, Black RE. Orbicularis myectomy with levator advancement in Schwartz-Jampel syndrome. Am J Ophthalmol 2001;132:799–801. [9] Bastola P. Schwartz-Jampel syndrome, vol. 8. Kathmandu Univ Med J(KUMJ); 2010. p. 348–51.
Please cite this article in press as: Elsayed SM, Gamal R. . Egypt J Med Hum Genet (2017), http://dx.doi.org/10.1016/j.ejmhg.2017.06.001
4
S.M. Elsayed, R. Gamal / The Egyptian Journal of Medical Human Genetics xxx (2017) xxx–xxx
[10] Farrell SA, Davidson RG, Thorp P. Neonatal manifestations of Schwartz-Jampel syndrome. Am J Med Genet 1987;27:799–805. [11] Squires LA, Prangley J. Neonatal diagnosis of Schwartz-Jampel syndrome with dramatic response to carbamazepine. Ped Neurol 1996;15:172–4. [12] Vargel I, Canter HI, Topaloglu H, Erk Y. Results of botulinum toxin: an application of blepharsospasm Shwartz jampel syndrome. J Craniofac Surg 2006;17(4):656–60. [13] Giedion A, Boltshauser E, Briner J, Eich G, Exner G, Fendel H, et al. Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia. Eur J Pediatr 1997;156:214–23. [14] Nicole S, Davoine CS, Topaloglu H, Cattolico L, Barral D, Beighton P, et al. Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia). Nat Genet 2000;26:480–3.
[15] Peng HB, Xie H, Rossi SG, Rotundo RL. Acetylcholinesterase clustering at the neuromuscular junction involves perlecan and dystroglycan. J Cell Biol 1999;145:911–21. [16] Stum M, Girard E, Bangratz M, Bernard V, Herbin M, Vignaud A, et al. Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia. Hum Mol Genet 2008;17:3166–79. _ Karaog˘lu P, Yisß U, Kurul SH. Schwartz-Jampel syndrome with [17] Polat I, gastroduodenal bleeding. J Pediatr Neurosci 2016;11:255–7. [18] Arikawa-Hirasawa E, Le AH, Nishino I, Nonaka I, Ho NC, Francomano CA, et al. Structural and functional mutations of the perlecan gene cause SchwartzJampel syndrome, with myotonic myopathy and chondrodysplasia. Am J Hum Genet 2002;70:1368–75. [19] Fasanelli S, Kozlowski K, Reiter S, Sillence D. Dyssegemntal dysplasia (report of two cases with a review of literature. Skeletal Radiol 1985;14:173–7.
Please cite this article in press as: Elsayed SM, Gamal R. . Egypt J Med Hum Genet (2017), http://dx.doi.org/10.1016/j.ejmhg.2017.06.001