Schuurs‐Hoeijmakers syndrome in two patients from Japan
- 27 December 2018
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 179 (3), 341-343
- https://doi.org/10.1002/ajmg.a.9
Abstract
Schuurs‐Hoeijmakers syndrome is a rare disease characterized by intellectual disability and dysmorphic facial features among various physical abnormalities due to PACS1 mutation. To date, 28 patients with a recurrent de novo PACS1 mutation (c.607C > T) have been reported, primarily in Western populations. Here, we describe two Japanese patients with Schuurs‐Hoeijmakers syndrome with a recurrent PACS1 mutation. In addition to the typical clinical symptoms, each patient presented novel clinical phenotypes. One patient presented with involuntary movements and was treated with trihexyphenidyl hydrochloride. We hypothesized that the PACS1 mutation leads to an inherent dopaminergic insufficiency that underlies the developing symptoms along with the neurodevelopmental processes. The second patient was diagnosed with lipomyelomeningocele during an examination for severe constipation at the age of 2 years and 8 months. The diagnosis of lipomyelomeningocele in this patient was delayed due to the lack of cutaneous lesions. As the majority of patients with PACS1 mutation present constipation, underdiagnosis of lipomyelomeningocele is a possibility. As the phenotypic expansion of the patients with Schuurs‐Hoeijmakers syndrome was not fully recognized, additional studies are needed to clarify the clinical spectrum.Keywords
Funding Information
- Japan Agency for Medical Research and Development
This publication has 5 references indexed in Scilit:
- Ocular manifestations of PACS1 mutationJournal of American Association for Pediatric Ophthalmology and Strabismus, 2018
- Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizuresClinical Genetics, 2017
- Clinical delineation of the PACS1‐related syndrome—Report on 19 patientsAmerican Journal of Medical Genetics Part A, 2016
- Lipomyelomeningocele: pathology, treatment, and outcomesNeurosurgical Focus, 2012
- Management of lipomyelomeningocelesJournal of Neurosurgery, 1985