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Status epilepticus in a child with Sanjad Sakati syndrome

Rajniti Prasad1, Chhaya Kumari, Om Prakash Mishra

  • 1Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India.

BMJ Case Reports
|February 5, 2013
PubMed

Insights

Sanjad Sakati syndrome, a rare genetic disorder, can cause seizures and developmental delays. Early diagnosis and treatment with calcium and calcitriol can lead to complete recovery in affected children.

Area of Science:

  • Pediatric Neurology
  • Medical Genetics
  • Endocrinology

Background:

  • Sanjad Sakati syndrome (SSS) is a rare autosomal recessive disorder.
  • Characterized by intellectual disability, growth retardation, hypoparathyroidism, and basal ganglia calcification.
  • Often presents in childhood with neurological complications.

Observation:

  • A 6-year-old boy presented with status epilepticus.
  • Clinical features included facial dysmorphism, growth, and mental retardation.
  • Cranial tomography revealed bilateral calcification of basal ganglia.

Findings:

  • Laboratory investigations showed hypocalcemia and hypoparathyroidism.
  • These findings, combined with imaging, were consistent with Sanjad Sakati syndrome.
  • The patient experienced a complete recovery following treatment.

Implications:

  • Highlights the importance of recognizing Sanjad Sakati syndrome in children with characteristic features.
  • Demonstrates the efficacy of prompt management of hypocalcemia in preventing severe neurological sequelae.
  • Emphasizes the need for multidisciplinary care for patients with rare genetic disorders.

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