Osteopathia striata Voorhoeve with cranial sclerosis is a rare X-linked dominant inherited
bone dysplasia, characterized by longitudinal striations of long bones and cranial
sclerosis. Patients can be asymptomatic or present with typical facial dysmorphism,
sensory defects, internal organs anomalies, growth and mental retardation, depending
on the severity of the disease. The WTX gene has been recently identified as the disease
causing gene.
We present here the case of a 13 year old girl with osteopathia striata exhibiting
bilateral sensorineural hearing loss, microcephaly with mental retardation, hyperopia,
astigmatisms and strabismus. The mother also suffers from osteopathia striata and
sensorineural hearing loss however not as severe. A WTX gene mutation is suspected.
Due to her mental retardation the girl's vocabulary was limited. However over the
last month her pronunciation grew sloppy and her vocabulary seemed even more restricted.
Clinical evaluation showed functional deafness on the left ear and severe sensorineural
hearing loss on the right ear. CT and MRI diagnostic showed sclerosis of the petrous
bone on both sides with narrowing of the inner ear canal.
Cochlea implantation was performed on the left ear first and showed good results with
hearing gain between 20 and 30dB. Speech recognition (Göttinger Children Test II closed)
was 30% at 65dB HL after 1 year also due to the restricted vocabulary of the patient.
With progressive hearing loss despite hearing aid on the right side cochlear implantation
was performed about one and a half years after the left side.
This case is, to our knowledge, the first describing bilateral cochlear implantation
in a case of Osteopathia striata with cranial sclerosis. Despite mental retardation
the patients benefit was immense.
