Balkan Journal of Medical Genetics

SEVERE FORM OF SALIH MYOPATHY CAUSED BY COMBINATION OF TWO HETEROZYGOUS TTN MUTATIONS
Milojković M, Jarić M, Stojanović V, Barišić N, Kavečan I
*Corresponding Author: Assistant Milica Milojkovic, MD, PhD, Institute for Child and Youth Health Care of Vojvodina, Hajduk Veljkova 10, 21000 Novi Sad, Serbia; e-mail: milica.milojkovic@mf.uns.ac.rs
page: 73

DISCUSSION

Salih myopathy is relatively new entity, so it is dif- ficult for clinicians to distinguish congenital titinopathies from congenital myopathies associated with other genes (7,8). With that in mind, the diagnostic approach excluded some of the more common causes of hypotonia in children and suspected a rare cause. Salih myopathy is characterized by muscle weak- ness, hypotonia that manifests itself in the neonatal period or early childhood. According to Hackam et al., affected children walk between the ages of 20 months and 4 years, with a tendency for motor functions to improve (3). In contrast, our reported child is 2 years old, without spon- taneous movements, with the same motor functions as at birth, and is dependent on invasive respiratory support. Contractures and deformities of the foot are common in patients with titinopathies, localized distally and affect- ing more than two joints, appearing in the first decade of life (7, 9). Unlike joint contractures and foot deformities, multiple fractures are rare. According to data from the lit- erature, fractures were described only in two patients until now (10). So far, there are no reported multiple fractures in the neonatal period as our patient had. Cases are described where mechanical support was needed only at birth and with further progression of the disease. This was performed intermittently only during the night (10). Unlike patients found in the literature, our patient has been on invasive respiratory support from birth. According to data from the literature, dilated cardio- myopathy can occur in patients at the age of 4 months, but most often between 5 and 16 years of age (11,12,13). The echocardiographic examination of our patient is still normal. There are no specific laboratory and radiological find- ings that can be used to diagnose Salih myopathy. Creatine kinase may be at the upper limit of normal or elevated (generally 1.5-7x elevated) (3). Similarly, creatine kinase in our case was initially elevated, 1.7x above the upper limit, and later normal. In the literature, EMNG findings of patients are reported, indicating a polyphasic potential of low amplitude of short duration (3). The same finding was obtained in our patient. The findings of muscle biopsies in patients with ti- tinopathies are pathological. The changes that can be ob- served are increased fiber size variation, centrally placed cores and cores with additional structural abnormalities (10). In Salih myopathy, electron microscopy of skeletal muscles reveals multiple foci of sarcomere disruption and mitochondrial depletion (3). In our patient’s muscle biopsy, no pathognomonic changes were registered to the extent that they were diagnostic. The intellectual development of children with Salih myopathy is usually normal (3). Our patient is conscious, establishes social contact, and a psychological examina- tion shows gross retardation in psychomotor development, most likely because of severe perinatal asphyxia (MRI), most likely due to severe congenital hypotonia.

Number 27 VOL. 27 (2), 2024	Number 27 VOL. 27 (1), 2024
Number 26 Number 26 VOL. 26(2), 2023 All in one	Number 26 VOL. 26(2), 2023
Number 26 VOL. 26, 2023 Supplement	Number 26 VOL. 26(1), 2023
Number 25 VOL. 25(2), 2022	Number 25 VOL. 25 (1), 2022
Number 24 VOL. 24(2), 2021	Number 24 VOL. 24(1), 2021
Number 23 VOL. 23(2), 2020	Number 22 VOL. 22(2), 2019
Number 22 VOL. 22(1), 2019	Number 22 VOL. 22, 2019 Supplement
Number 21 VOL. 21(2), 2018	Number 21 VOL. 21 (1), 2018
Number 21 VOL. 21, 2018 Supplement	Number 20 VOL. 20 (2), 2017
Number 20 VOL. 20 (1), 2017	Number 19 VOL. 19 (2), 2016
Number 19 VOL. 19 (1), 2016	Number 18 VOL. 18 (2), 2015
Number 18 VOL. 18 (1), 2015	Number 17 VOL. 17 (2), 2014
Number 17 VOL. 17 (1), 2014	Number 16 VOL. 16 (2), 2013
Number 16 VOL. 16 (1), 2013	Number 15 VOL. 15 (2), 2012
Number 15 VOL. 15, 2012 Supplement	Number 15 Vol. 15 (1), 2012
Number 14 14 - Vol. 14 (2), 2011	Number 14 The 9th Balkan Congress of Medical Genetics
Number 14 14 - Vol. 14 (1), 2011	Number 13 Vol. 13 (2), 2010
Number 13 Vol.13 (1), 2010	Number 12 Vol.12 (2), 2009
Number 12 Vol.12 (1), 2009	Number 11 Vol.11 (2),2008
Number 11 Vol.11 (1),2008	Number 10 Vol.10 (2), 2007
Number 10 10 (1),2007	Number 9 1&2, 2006
Number 9 3&4, 2006	Number 8 1&2, 2005
Number 8 3&4, 2004	Number 7 1&2, 2004
Number 6 3&4, 2003	Number 6 1&2, 2003
Number 5 3&4, 2002	Number 5 1&2, 2002
Number 4 Vol.3 (4), 2000	Number 4 Vol.2 (4), 1999
Number 4 Vol.1 (4), 1998	Number 4 3&4, 2001
Number 4 1&2, 2001	Number 3 Vol.3 (3), 2000
Number 3 Vol.2 (3), 1999	Number 3 Vol.1 (3), 1998
Number 2 Vol.3(2), 2000	Number 2 Vol.1 (2), 1998
Number 2 Vol.2 (2), 1999	Number 1 Vol.3 (1), 2000
Number 1 Vol.2 (1), 1999	Number 1 Vol.1 (1), 1998

About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact