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Table 1 Clinical data of case reports of congenital myopathy with chylothorax

From: Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature

Study

Authors’ study

Garcia-Angarita, et al. (2009) [ 7 ]

Schröder, et al. (2004) [ 6 ]

Smets (2008) [ 15 ]

Son, et al. (2012) [ 16 ]

Age at presentation

At birth (GA 37 week)

At birth (GA 39 week)

At birth

At birth

At birth, (GA 30 week, non-identical twin A)

Sex

Male

Male

Male

Male

Male

Race

Thai

German

Turkish

Turkish

Korean

Diagnosis

Nemaline myopathy, severe congenital

Nemaline myopathy, severe congenital

Nemaline myopathy (intranuclear rod variant), severe congenital

Myotubular myopathy, severe congenital

Congenital myotonic dystrophy type 1

Gene muatation

ACTA1 gene (c.1127G > C, exon 7), heterozygous

ACTA1 gene (c.222G > T & c.223C > T, exon 3), heterozygous

ACTA1 gene (Asp154Asn, exon 4), heterozygous

MTM1 gene (c.1261-10A > G)

DMPK gene (more than 750 CTG repeats)

Inheritance

De novo

De novo

De novo

X-linked recessive

Autosomal dominant (affected mother)

Chylothorax

Bilateral

Bilateral

Present

Bilateral

Bilateral

Triglyceride level in pleural effusion (mg/dl)

4773

NA

NA

746

495

Cause of chylothorax

Primary pulmonary lymphangiectasia

Not defined

Not defined

Not defined

Not defined

Serum creatine kinase (U/L)

16-25, Low, (normal 30-200 U/L)

Normal

NA

NA

281

Signs and symptoms

Absent spontaneous neonatal movement, respiratory difficulty, fractures of both humeri and femurs, high arch palate

Absent spontaneous neonatal movement, respiratory difficulty, fractures of both humeri and femurs

Generalized hypotonia, respiratory difficulty, right pulmonary hypoplasia

Generalized hypotonia, respiratory difficulty

Generalized hypotonia, respiratory difficulty, triangular face, inverted v-shaped upper lip

Age at death, Cause of death

6 weeks, respiratory failure

8 weeks, respiratory failure

9 weeks, respiratory failure

16 weeks, NA

14 weeks, respiratory failure and pneumonia

  1. GA, gestational age; NA, not available.