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BEAULIEU BOYCOTT INNES SYNDROME (BBIS)

Elamin Saeed Mohamed Mahmoud, Abdullah Khalid Algahtani, Yazeed Mohammed Alrabah, Abdulaziz Abdulrahman Alshudayyid, Hayam Hussien Abdalla Ahmed

Background: An autosomal recessive neurodevelopmental disorder known as Beaulieu Boycott Innes syndrome (BBIS). The patient can present with dysmorphic facial features (tall forehead,shortupslanting palpebral fissures, deep-set eyes, and a long nose with overhanging columella.), delayed development, and moderate to severe intellectual disability Case presentation: five months old baby boy from a Saudi consanguineous parents, a product of a cesarean section due to oligohydramnios at full term, with a birth weight of 2.2 kg, the baby is known to have failure to thrive in addition to global developmental delay, dysmorphic facial features, microcephaly, cleft palate, and congenital heart disease, the baby also has hx of feeding intolerance of both oral and NGT, in the form of vomiting and aspirations which caused him recurrent chest infections, for that the patient is on TPN, and despite receiving the maximum calories the weight gain is slow Conclusion: Beaulieu-Boycott-Innes syndrome (BBIS) is a very rare genetic disease caused by homozygous or compound heterozygous mutation in the THOC6 gene (615403) on chromosome 16p13. Keywords: neurodevelopmental disorder; BBIS; genetic disease.

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