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First Case Report of Smith – Magenis Syndrome (SMS) Among the Arab Community in Nazareth

View Article: PubMed Central - PubMed

ABSTRACT

Smith–Magenis syndrome (SMS0) is a complex and rare genetic multisystem disorder characterized by a variable pattern of cognitive deficits accompanied by a1 distinctive behavioral phenotype. SMS is characterized by subtle facial dysmorphology, short stature, sleep disturbances, and neurobehavioral abnormalities. Little is known about the manifestation of his unique case among Arab population and its strategic treatment.

This study comes to present a case of SMS in an Arab newborn male who was born in spontaneous delivery on June 29, 2015, with tachypnea, tracheomalacia, and mild hypotonia. The newborn was admitted on the Neonatal Intensive Care Unit (NICU), and various laboratory examinations and clinical examinations were performed.

Throughout his hospitalization, feeding difficulties appeared and thus a peripheral venous catheter was inserted in the left leg.

After 22 days of follow-up and hospitalizations, the patient status improved and he was discharged with recommendations to be in follow up in pediatric outpatient clinic.

However, notwithstanding the different investigations, intermittent tachypnea continued at a rate of 72 to 77 breaths/min. Search for diagnosis begin intensively owing to persistence of tachypnia, mild hypotonia, feeding difficulties, sleep disturbances, and mild dysmorphic facial features. Suspicions of genetic abnormalities were considered and blood samples were sent for chromosome analysis and for fluorescent in situ hybridization (FISH) testing.

The genetic results revealed the following: cytogenetic findings: 46, XY, del(17)(p11.2) and the FISH results: del(17)(p11.2p11.2) (D17S29). The chromosome diagnosis revealed an interstitial deletion of 17p11.2 and the diagnosis of the SMS was confirmed.

Accurate clinical diagnosis, therapeutic assessments and a holistic management plans, including multidiscipline therapeutic strategies, periodic neuro-developmental assessments, and an early intervention programs, are recommended.

However, cytogenetic analysis or FISH using an RAI1-specific probe is the most frequently used technique for DS. Sleep and behavioral disturbances treatment include a combination of the daytime dose of acebutolol with an evening oral dose of melatonin. Melatonin as chronobiotic, antioxidant, and analgesic agent showed to be effective in different primary sleep disorders and in those associated with neurobehavioral disorders. Based on the beneficial effect of melatonin, it will be useful to use serum levels of melatonin as a follow-up test.

No MeSH data available.


Related in: MedlinePlus

Metaphase fluorescent in situ hybridization (FISH) using the probe in the Smith–Magenis syndrome (SMS, OMIM 182290). The red area shows the control the green gene responsible for SMS. FISH = fluorescent in situ hybridization, SMS = Smith–Magenis syndrome.
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Figure 1: Metaphase fluorescent in situ hybridization (FISH) using the probe in the Smith–Magenis syndrome (SMS, OMIM 182290). The red area shows the control the green gene responsible for SMS. FISH = fluorescent in situ hybridization, SMS = Smith–Magenis syndrome.

Mentions: However, notwithstanding all these investigations, intermittent tachypnea continued at a rate of 72 to 77 breaths/min. Owing to persistence of tachypnia, mild hypotonia, feeding difficulties, sleep disturbances, and mild dysmorphic facial features observed clearly such as a flat, broad nasal bridge and small mandible, suspicion of genetic abnormalities were considered and blood samples were sent for chromosome analysis and for FISH testing (Figure 1). The genetic exam revealed the following results:


First Case Report of Smith – Magenis Syndrome (SMS) Among the Arab Community in Nazareth
Metaphase fluorescent in situ hybridization (FISH) using the probe in the Smith–Magenis syndrome (SMS, OMIM 182290). The red area shows the control the green gene responsible for SMS. FISH = fluorescent in situ hybridization, SMS = Smith–Magenis syndrome.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4998242&req=5

Figure 1: Metaphase fluorescent in situ hybridization (FISH) using the probe in the Smith–Magenis syndrome (SMS, OMIM 182290). The red area shows the control the green gene responsible for SMS. FISH = fluorescent in situ hybridization, SMS = Smith–Magenis syndrome.
Mentions: However, notwithstanding all these investigations, intermittent tachypnea continued at a rate of 72 to 77 breaths/min. Owing to persistence of tachypnia, mild hypotonia, feeding difficulties, sleep disturbances, and mild dysmorphic facial features observed clearly such as a flat, broad nasal bridge and small mandible, suspicion of genetic abnormalities were considered and blood samples were sent for chromosome analysis and for FISH testing (Figure 1). The genetic exam revealed the following results:

View Article: PubMed Central - PubMed

ABSTRACT

Smith–Magenis syndrome (SMS0) is a complex and rare genetic multisystem disorder characterized by a variable pattern of cognitive deficits accompanied by a1 distinctive behavioral phenotype. SMS is characterized by subtle facial dysmorphology, short stature, sleep disturbances, and neurobehavioral abnormalities. Little is known about the manifestation of his unique case among Arab population and its strategic treatment.

This study comes to present a case of SMS in an Arab newborn male who was born in spontaneous delivery on June 29, 2015, with tachypnea, tracheomalacia, and mild hypotonia. The newborn was admitted on the Neonatal Intensive Care Unit (NICU), and various laboratory examinations and clinical examinations were performed.

Throughout his hospitalization, feeding difficulties appeared and thus a peripheral venous catheter was inserted in the left leg.

After 22 days of follow-up and hospitalizations, the patient status improved and he was discharged with recommendations to be in follow up in pediatric outpatient clinic.

However, notwithstanding the different investigations, intermittent tachypnea continued at a rate of 72 to 77 breaths/min. Search for diagnosis begin intensively owing to persistence of tachypnia, mild hypotonia, feeding difficulties, sleep disturbances, and mild dysmorphic facial features. Suspicions of genetic abnormalities were considered and blood samples were sent for chromosome analysis and for fluorescent in situ hybridization (FISH) testing.

The genetic results revealed the following: cytogenetic findings: 46, XY, del(17)(p11.2) and the FISH results: del(17)(p11.2p11.2) (D17S29). The chromosome diagnosis revealed an interstitial deletion of 17p11.2 and the diagnosis of the SMS was confirmed.

Accurate clinical diagnosis, therapeutic assessments and a holistic management plans, including multidiscipline therapeutic strategies, periodic neuro-developmental assessments, and an early intervention programs, are recommended.

However, cytogenetic analysis or FISH using an RAI1-specific probe is the most frequently used technique for DS. Sleep and behavioral disturbances treatment include a combination of the daytime dose of acebutolol with an evening oral dose of melatonin. Melatonin as chronobiotic, antioxidant, and analgesic agent showed to be effective in different primary sleep disorders and in those associated with neurobehavioral disorders. Based on the beneficial effect of melatonin, it will be useful to use serum levels of melatonin as a follow-up test.

No MeSH data available.


Related in: MedlinePlus