Atypical Cyanotic Breath-Holding Spells in an Infant With 16p11.2 Microdeletion Syndrome.
- Resource Type
- Case Study
- Authors
- Bhat, Jayalakshmi; Martinez, Jose; Maertens, Paul,
- Source
- Clinical Pediatrics; Mar2018, Vol. 57 Issue 3, p365-367, 3p
- Subject
- Spasms
Seizures (Medicine)
Arrhythmia
Chromosome abnormalities
Cyanosis
Echocardiography
Fecal occult blood tests
Hypomagnesemia
Iron
Nervous system abnormalities
Tetralogy of Fallot
Genetic testing
Long QT syndrome
Breath holding
Craniofacial abnormalities
Prevention
- Language
- ISSN
- 00099228
A case study is presented of a 4-month-old white male infant presented with recurrent episodes of seizure-like activities. Continuous video electroencephalogram, magnetic resonance imaging and cerebrospinal fluid analysis were normal; physical examination revealed macrocephaly with sparse hair; and he was diagnosed of 16p11.2 microdeletion syndrome with a nonepileptic paroxysmal disorder related to breath-holding spells.