Impaired Control of Respiration as Crucial Evidence for Pitt-Hopkins Syndrome

Aims: Hyperventilation followed by apnean is one criterium for the diagnosis of a Pitt-Hopkins-Syndrom.

Methods: By the means of two casuistics, the attention is being drawn to Pitt-Hopkins syndrome, a disorder which is likely to be unterdiagnosed. Genetic testing for Pitt-Hopkins syndrome has been available since 2007. This video shows two children, a boy and a girl, whose development was primarily retarded in all aspects. They additionally presented minor dismorphic features.

Results: In the later course, both chidren developed recurrent phases of hyperventilation and apnea followed by atonic seizure-like patterns, which may imply an epileptic disorder taking the pathologic EEG findings also into consideration. Antiepileptic medication was only partially effective. Neither was there molecular genetic evidence for Rett nor for Angelman syndrome. An MRI scan eliminated Joubert syndrome as a differential diagnosis. Pitt-Hopkins syndrome was identified by molecular genetic testing.

Conclusion: Pitt-Hopkins syndrome is an important differential diagnosis in children with severe global developmental disability, lack of speech development and phases of hyperventilation.

hyperventilation - apnean - pitt-hopkins-syndrom