Bilateral cochlear implantation in a patient with osteopathia striata voorhoeve and cranial sclerosis

Objective: Osteopathia Striata with Cranial Sclerosis (OS-CS) is a rare form of X-linked dominant sclerosing bone dysplasia. The estimated prevalence of OS-CS is less than 1 in 1,000,000 in the general population with a little over 100 reported cases so far. Up to half of the patients suffer from hearing loss. Hearing loss is usually conductive rather than mixed or sensorineural in patients with OS-CS sclerosis. Herein, we report our experience with a patient who although initially had a conductive hearing loss, later developed sensorineural hearing loss on both sides and was treated with bilateral cochlear implantation. Patient: Thirteen-year-old female patient suffering from Osteopathia striata with cranial sclerosis and functional deafness in the left ear and a high-grade sensorineural hearing loss in the right ear. Intervention: Bilateral cochlear implantation Main outcome measures: Postoperative hearing gain, clinical outcome, audiological examination. Results: The patient showed good hearing gain of 30 dB on the left side and between 30 dB and 40 dB on the right side. Conclusions: Despite the cranial sclerosis, cochlear implantation is a viable option in improving life quality of patients with Osteopathia striata. Nevertheless, it should be noted that in such cases, there is a possibility of progressive sclerosis leading to further narrowing of the internal auditory canal or even complete closure thereby damaging the auditory nerve irreversibly. Keywords: Purple urine bag syndrome (PUBS); purple discolouration; urinary tract infection (UTI); long-term catheterization.

Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis

Osteopathia striata with cranial sclerosis (OSCS) is an X-linked dominant condition characterised by metaphyseal striations, macrocephaly, cleft palate, and developmental delay in affected females. Males have a more severe phenotype with multi-organ malformations, and rarely survive. To date, only frameshift and nonsense variants in exon 2, the single coding exon of AMER1, or whole gene deletions have been reported to cause OSCS. In this study, we describe two families with phenotypic features typical of OSCS. Exome sequencing and multiplex ligation-dependent probe amplification (MLPA) did not identify pathogenic variants in AMER1. Therefore, genome sequencing was employed which identified two deletions containing the non-coding exon 1 of AMER1 in the families. These families highlight the importance of considering variants or deletions of upstream non-coding exons in conditions such as OSCS, noting that often such exons are not captured on probe or enrichment-based platforms because of their high G/C content.

Osteopathia Striata with Cranial Sclerosis: A Face-to-Radiograph-to-Gene Diagnosis

Osteopathia striata with cranial sclerosis is an X-linked dominant bone dysplasia with osteosclerosis. It should be suspected in girls with macrocephaly, intellectual disability with unique facial dysmorphic features. We described the clinical and radiological profile of a patient with this rare disorder. A novel heterozygous variant was identified in the AMER1 gene which leads to premature truncation of the AMER1 protein. Facial gestalt recognition using artificial intelligence and radiographic features were used to narrow the differential diagnosis.