Epileptic spasms in CDKL5 deficiency disorder: Delayed treatment and poor response to first-line therapies.

Objective: We aimed to assess the treatment response of infantile-onset epileptic spasms (ES) in CDKL5 deficiency disorder (CDD) vs other etiologies.

Methods: We evaluated patients with ES from the CDKL5 Centers of Excellence and the National Infantile Spasms Consortium (NISC), with onset from 2 months to 2 years, treated with adrenocorticotropic hormone (ACTH), oral corticosteroids, vigabatrin, and/or the ketogenic diet. We excluded children with tuberous sclerosis complex, trisomy 21, or unknown etiology with normal development because of known differential treatment responses.

Intractable nodulocystic acne in a patient with trisomy 13.

We report the case of a boy with trisomy 13 who developed severe nodulocystic acne with sinus tract formation that has been unresponsive to multiple courses of systemic antibiotics and isotretinoin.