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 CASE REPORT
Year : 2021  |  Volume : 69  |  Issue : 1  |  Page : 161--163

A Rare Etiology of Hypocalcemic Seizures in Adulthood: Clues to Diagnosis from Facial Dysmorphism


1 Departments of Endocrinology, All India Institute of Medical Sciences (AIIMS) Rishikesh, Uttarakhand, India
2 General Medicine, All India Institute of Medical Sciences (AIIMS) Rishikesh, Uttarakhand, India
3 Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India

Correspondence Address:
Kriti Joshi
Department of Endocrinology AIIMS Rishikesh, Virbhadra Road, Rishikesh - 249 203, Uttarakhand
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.310108

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We report a 40-year-old male who presented with seizures due to hypocalcemia. Biochemical evaluation revealed the diagnosis of hypoparathyroidism. The symptom complex of dysmorphic facies and intellectual disability along with hypoparathyroidism led to a suspicion of 22q11.2 microdeletion syndrome (22q11.2DS), which was confirmed by multiplex ligation-dependent probe amplification (MLPA) analysis showing 22q11.2.21 microdeletion.






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Online since 20th March '04
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