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Introduction
Escobar Syndrome (ES) is an autosomal recessive non-lethal clinical variant of multiple pterygium
syndrome that is diagnosed early with pterygia located in axillary, antecubital, popliteal and joints such as
neck, flexion contractures, intrauterine growth deficiency, and distinct facial features. Pterygium becomes
more obvious in time leading to fixed contractures.
Respiratory problem is among the significant problem in the neonatal period that can be related to RDS in
premature newborns and pulmonary hypoplasia which can lead to respiratory distress, a life-threatening
complication. Hence, respiratory issues should be treated with early and strict observation or intervention,
if needed.
Summary
A one-month LBW preterm male presented with difficulty of breathing
with no fever since 2 weeks before admission. There was no
breathing problems or cyanosis at birth. Patient is the 3rd child with a
history of miscarriage on first pregnancy and family history of multiple
miscarriages but no information regarding previous sibling. On
examination, patient was malnourished, dysmorphic face with short &
webbed neck, pansystolic murmur, multiple congenital anomalies
such as triangular face, antimongoloid slant eyes, high nasal bridge,
abnormal large low set ears, micrognathia, camptodactyly, and limited
mobility of elbows and knees. Echocardiography showed moderate
VSD, small PDA, and supravalvular PS hence captopril was initiated.
Chest x-ray confirmed infiltrate and small chest size. Figure 1. antimongoloid
Based on dyspnea, leukocytosis (20.540), and pulmonary infiltrate, slant eyes, low set
pneumonia was diagnosed and meropenem was initiated. Based on
ears,short webbed neck
bronchoscopy, patient had laringomalacia type 3 and left main
bronchial stenosis. Because of financial issues, no genetic testing
was conducted but was clinically suspected as Escobar Syndrome by
genetic specialist.
No improvement of dyspnea and retraction seen in first week showed
failure response to initial antibiotics and regimen was adjusted to
ampicillin and , later on, cefoperazone sulbactam, but there was no
improvement and the patient passed away after 18 days of care due
to septic shock. Figure 2. camptodactyly,
webbed neck
Learning Point
Although ES is a non-lethal variant, but patient with small chest size
must be strictly observed for respiratory problems. Respiratory
problem including pneumonia plus episodes of dyspnea and apnea
can lead to significant morbidity as well as death in first year of life in
approximately 6% of patient hence the need for early and strict
observation.
Treatment is based on the defects and comorbidities, in this case,
pneumonia, therefore physiotherapy and infection control are the
main treatments. Multiple comorbidities, congenital defects, and
severe infection resulted in failure to control infection in this patient. Figure 3. Popliteal
pterygium
Source :
1. Hoffmann K, Muller J, Stricker S, Megarbane A, Rajab A, Lindner T et al. Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acteylcholine
Receptor Fetal gamma subunit. The American Journal of Human Genetics. 2006;79(2):303-312
2. Dorum B, Ozkan H, Koksal N. Escobar syndrome : non-lethal multiple pterygium syndrome case report. Medicine Science| International Medical Journal. 2017;:1.
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