What is the prevalence of seizures in Pitt-Hopkins syndrome?

Updated: May 30, 2019
  • Author: David Y Ko, MD; Chief Editor: Selim R Benbadis, MD  more...
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Pitt-Hopkins syndrome is classically caused by mutations in the TCF4 gene, although several forms of Pitt-Hopkins–like syndrome have been described. Patients with Pitt-Hopkins syndrome have severe intellectual disability, microcephaly, and little or no speech. They also have an unusual breathing pattern characterized by intermittent hyperventilation followed by periods of apnea.

Patients with Pitt-Hopkins also have distinctive facies, which may not be apparent in early childhood. These features include microcephaly with a coarse facial appearance, deeply set eyes, upslanting palpebral fissures, a broad and beaked nasal bridge with a downturned nasal tip, a wide mouth and fleshy lips, and widely spaced teeth. There is also a tendency toward prognathism.

Seizures are seen in this syndrome, with one study reporting a frequency of 20%. [17] Earlier studies suggested that around 50% of patients with Pitt-Hopkins have seizures.

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