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2021•Neurology IndiaRequires access

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

Nisha Batra, Ravi Kant, Kausik Mandal, Kriti Joshi

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Abstract

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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What this paper is about

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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OpenAlex reports 5 citations for this work. Citation counts describe recorded attention and do not establish research quality.

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Available abstract

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.

Key concepts: Medicine, Etiology, Pediatrics, Epilepsy, Dermatology, Pathology, Psychiatry

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A Rare Etiology of Hypocalcemic Seizures in Adulthood: Clues to Diagnosis from Facial Dysmorphism — Research Paper | ScholarLens