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Updated: May 16, 2026

Assessment of Calcium Sparks in Intact Skeletal Muscle Fibers
Published on: February 24, 2014
[An uncommon cause of hypocalcemic convulsion: congenital rickets. Case report]
Duran Karabel1, Musemma Karabel, Ayse Esra Yilmaz
1Departamento de Pediatría, Maternity and Children's Hospital, Siirt, Turquía.
Insights
Maternal vitamin D deficiency can cause congenital rickets, a rare condition leading to seizures in infants. Early diagnosis and intervention are crucial for newborns with this condition.
Area of Science:
- Pediatrics
- Endocrinology
- Nutritional Science
Background:
- Vitamin D deficiency and rickets are significant global health issues, particularly in developing nations.
- Congenital rickets, a rare manifestation, is strongly linked to maternal vitamin D status during pregnancy.
Observation:
- A two-month-old infant presented with seizures and was hospitalized for a pulmonary infection.
- The infant's clinical presentation raised suspicion for underlying metabolic or nutritional disorders.
Findings:
- The infant was diagnosed with congenital rickets, directly attributed to maternal vitamin D deficiency.
- This case highlights the critical role of maternal nutrition in fetal and infant skeletal development.
Implications:
- Highlights the importance of screening pregnant women for vitamin D deficiency to prevent congenital rickets.
- Emphasizes the need for increased awareness and management of vitamin D deficiency in pediatric populations.
- Underscores the potential for severe neurological complications, such as seizures, in infants with undiagnosed rickets.
Abstract:
Vitamin D deficiency and rickets are major health problems in developing countries. Congenital rickets is a rare form of rickets. Maternal vitamin D deficiency is the most important risk factor for vitamin D deficiency and rickets in newborns and early infancy. In this report, we presented a two-month old infant with seizures while hospitalized for pulmonary infection. Finally, congenital rickets due to maternal vitamin D deficiency was diagnosed.
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