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

CASE REPORT

In this manuscript we describe a 2-year-old Roma origin girl who was diagnosed with Salih myopathy. She is the fourth child of nonconsanguineous parents. The second child from the same parents was born in severe perinatal asphyxia, with hypotonia, congenital heart defect (partial anomalous inflow of the pulmonary veins) and multiple joint contractures and died in the 5th month of life before a definitive diagnosis was made. Our patient is from a regularly monitored pregnancy, but oligohydramnios was noted near the end of the pregnancy which was terminated by caesarean section at 38+ 5/7 weeks of gestation. The baby was born in severe perinatal asphyxia (Apgar score 2/2). The somatometric parameters at birth were as fol- lows: BW 3090 g (50.p), BL 50 cm (50.p), HC 37 cm (>99.p). After birth she was cyanotic, bradycardic, without spontaneous breaths and movement, with global hypotonia and hypermobility of the elbows, hips and ankles and deformity of foot (equinovarus). Upon first examination, the following was observed: macrocephaly, short nose, low set ears, low set hairline, up-slanting palpebral fissures, excess skin at the back of the neck. On the radiographic image of the locomotor system, multiple fractures of the long bones were established (fracture of the body of the left humerus, the body of both femurs and the right tibia in the proximal part). She was referred to the Department of Intensive Care and Therapy immediately after birth due to respiratory failure. She required endotracheal intubation and since then the child has been on mechanical ventilation without the possibility of cessation, while maintaining a neurological finding dominated by global hypotonia and poor spontaneous movements. Fractures of long bones were treated with immobilization. No new fractures were registered during further hospitalization. Due to signs of global muscular hypotonia and a posi- tive family history of congenital hypotonia, a laboratory, metabolic, neuroradiological and genetic evaluation have been conducted. The findings are shown in Table 1. According to clinical manifestations, conducted ex- aminations, including genetic testing, a diagnosis of Salih myopathy was made. A segregation analysis was done for the parents and a heterozygous genetic variant c.15218- 2A>G in the TTN gene was detected in the child’s mother, and a heterozygous genetic variant c.56572C>T (p.Arg18858Ter) in the TTN gene was detected in the child’s father.

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