Sanjad-Sakati Syndrome in Sudanese children

Area of Science:

• Genetics
• Pediatrics
• Endocrinology

Background:

• Sanjad-Sakati syndrome (SSS) is a rare autosomal recessive disorder.
• Characterized by hypoparathyroidism, growth retardation, and dysmorphic features.
• Previously documented cases outside of the Middle East are scarce.

Purpose of the Study:

• To report the initial cases of Sanjad-Sakati syndrome diagnosed in Sudan.
• To describe the clinical presentation and familial context of these patients.
• To emphasize the importance of recognizing SSS in pediatric populations with hypocalcemia.

Main Methods:

• Case series reporting on four infants (3 female, 1 male) from four unrelated consanguineous families.
• Clinical evaluation included assessment of growth, dysmorphic features, and biochemical testing for parathyroid hormone levels.
• Review of family history for similar unexplained infant deaths.

Main Results:

• All four patients presented in early infancy with recurrent hypocalcemic seizures.
• Severe growth retardation and distinct dysmorphic facial features were consistently observed.
• All patients exhibited low parathyroid hormone levels, confirming hypoparathyroidism.
• Affected families were of Arab descent and consanguineous.
• Eight siblings from these families had died with similar symptoms, undiagnosed.

Conclusions:

• This report expands the geographic and ethnic spectrum of Sanjad-Sakati syndrome.
• The findings underscore the critical need for early diagnosis of SSS in infants presenting with hypocalcemia and developmental issues.
• Increased awareness and diagnostic capabilities are crucial for affected families in Sudan and similar regions.