Abstract | BACKGROUND: CASE: Herein, we report the characteristics of a 6-year-old Turkish girl with a diagnosis of SMARD1 confirmed by homozygous c.1738G > A (p.Val580Ile) missense IGHMBP2 variant. She had unusual features such as vocal cord paralysis, nystagmus, and lack of congenital foot deformities besides typical findings including hypotonia, respiratory distress, and diaphragmatic weakness in the early infantile period. Epileptic seizures, cognitive impairment, and brain magnetic resonance imaging (MRI) abnormalities were other, unexpected, features which developed during the course of the disorder possibly due to several hypoxic episodes. CONCLUSIONS:
SMARD1 should be kept in mind in hypotonic infants with diaphragmatic weakness and respiratory failure during the early infantile period, even in the presence of unexpected findings including vocal cord paralysis, nystagmus, epileptic seizures, and brain MRI abnormalities.
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Authors | Serdar Pekuz, Yiğithan Güzin, Serdar Sarıtaş, Özgür Kırbıyık, Aycan Ünalp, Ünsal Yılmaz |
Journal | The Turkish journal of pediatrics
(Turk J Pediatr)
Vol. 64
Issue 2
Pg. 364-374
( 2022)
ISSN: 2791-6421 [Electronic] Turkey |
PMID | 35611426
(Publication Type: Case Reports)
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Chemical References |
- DNA-Binding Proteins
- IGHMBP2 protein, human
- Transcription Factors
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Topics |
- Child
- DNA-Binding Proteins
(genetics)
- Female
- Humans
- Infant
- Infant, Newborn
- Muscle Hypotonia
(genetics)
- Muscle Weakness
(genetics)
- Muscular Atrophy, Spinal
- Premature Birth
- Respiratory Distress Syndrome, Newborn
(diagnosis, genetics)
- Respiratory Insufficiency
(genetics)
- Seizures
- Transcription Factors
(genetics)
- Vocal Cord Paralysis
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