CAPOS syndrome is an autosomal dominant neurological disorder caused by mutations in the ATP1A3 gene. Initial symptoms, often fever-induced, include recurrent acute ataxic encephalopathy in childhood, featuring cerebellar ataxia, optic atrophy, areflflexia, sensorineural hearing loss, and in some cases, pes cavus. This report details a case of CAPOS syndrome resulting from a maternal ATP1A3 gene mutation. Both the child and her mother exhibited symptoms post-febrile induction,including severe sensorineural hearing loss in both ears, ataxia, areflexia, and decreased vision. Additionally, the patient's mother presented with pes cavus. Genetic testing revealed a c. 2452G>A（Glu818Lys） heterozygous mutation in theATP1A3 gene in the patient . This article aims to enhance clinicians' understanding of CAPOS syndrome, emphasizing the case's clinical characteristics, diagnostic process, treatment, and its correlation with genotypeic findings.
Humans ; Child ; Female ; Cerebellar Ataxia/diagnosis* ; Talipes Cavus ; Hearing Loss, Sensorineural/diagnosis* ; Optic Atrophy/diagnosis* ; Mutation ; Phenotype ; Sodium-Potassium-Exchanging ATPase/genetics* ; Foot Deformities, Congenital ; Reflex, Abnormal

Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. Recently, a new form of severe deafness, microtia (small ear) and small teeth, without the appearance of eye abnormalities, was also reported. In this report, we describe a 1-year-old girl presenting with ptosis of the left upper eyelid, right auricular deformity, high-arched palate, delayed dentition, simian line on the right hand, microcephaly, and developmental delay. In this patient, we identified a deletion in the chromosome 11q13.2-q13.3 (2.75 Mb) region by using an array-comparative genomic hybridization analysis. The deletion in chromosome 11q13 results in a syndrome characterized by variable clinical manifestations. Some of these manifestations involve craniofacial dysmorphology and require a functional workup for hearing, ophthalmic examinations, and long-term dental care.
Coloboma ; Congenital Abnormalities ; Congenital Microtia ; Deafness ; Dental Care ; Dentition ; Eye Abnormalities ; Eyelids ; Female ; Hand ; Hearing ; Hearing Loss ; Hearing Loss, Sensorineural ; Humans ; Microcephaly ; Nucleic Acid Hybridization ; Palate ; Tooth ; Tooth Abnormalities

Inner ear malformations are anomalies linking to development insults at different periods of embryogenesis,which are common causes of congenital sensorineural hearing loss. The evaluation of pediatric sensorineural hearing loss mostly depends on high-resolution computed tomography and magnetic resonance imaging, which can excellently depict the temporal bones and inner ear malformations.
Ear, Inner ; abnormalities ; diagnostic imaging ; embryology ; Hearing Loss, Sensorineural ; congenital ; Humans ; Magnetic Resonance Imaging ; Temporal Bone ; abnormalities ; diagnostic imaging ; Tomography, X-Ray Computed

OBJECTIVE: To investigate imaging and audiology features of temporal bone and analyze the classification and prevalence of inner ear abnormalities in children with sensorineural hearing loss. METHOD: Children who were diagnosed with sensorineural hearing loss were examined by high resolution CT and the inner ear fluid of MRI. And each chart was retrospectively reviewed to determine the imaging and audiology features. RESULT: There were 125 patients(232 ears) found with inner ear malformation in 590 children with SNHL. About 21.71% of the inner ear malformation occurred in severe and profound hearing loss ears, and 12.85% occurred in r moderate hearing loss ears. The inner ear malformation rate in normal hearing ears were 13.59%. CONCLUSION CT and MRI examinations of temporal bone are important diagnostic tools to indentify inner ear malformations. Inner ear malformations are almost bilateral and hearing loss are profoud. Cochleo-vestibular malformations and large vestibular aqueduct are the 2 most frequent deformities. Among the children with SNHL, deformity rate in the severe and profound hearing loss ears is higher than that in moderate hearing loss ear. Inner ear malformations can exist in people with normal hearing.
Audiology ; Child ; Ear, Inner ; abnormalities ; Hearing Loss, Sensorineural ; congenital ; pathology ; Humans ; Magnetic Resonance Imaging ; Prevalence ; Retrospective Studies ; Temporal Bone ; Tomography, X-Ray Computed ; Vestibular Aqueduct ; abnormalities

To analyze congenital sensorineural hearing loss combined with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). For the case of cochlear implantation to child with congenital sensorineural deafness combined BPES, accomplish routine examination and assessment, combining with literature to analyze the clinical diagnosis of this disease and its significance. Sensorineural hearing loss is a common congenital diseases with neonatal incidence of 1 per thousand - 3 per thousand, 50%-70% of deafness is associated with genetic factors, the incidence of congenital sensorineural hearing loss combined with eye disease is about 40%-60%, mainly reflected in ametropia and retinopathy. BPES's main clinical manifestations is blepharophimosis, ptosis, epicanthus inversus, and telecanthus. BPES is a rare autosomal dominant disease caused by FOXL 2 gene mutation, sometimes associated with retarded growth, delayed development, congenital heart disease, and microcephaly. Suffering from both sensorineural hearing loss and BPES is rare in reported literature. This case is diagnosed by clinical examination, without visual impairment. Facial nerve dysplasia has been found during the surgery. For congenital deafness patients with eye disease or other diseases, timely and correct diagnosis has important clinical significance, which can improve the diagnostic rate and make it coming true to early intervention, and then, effectively improve the quality of the patients. There are few literature reports, of patients with two kinds of genetic diseases. Our inference is that the cases are rare or the patients has visited different departments and ignored the other systems' signs. Therefore, in such doubtful cases, we should do the professional comprehensive examination in daily clinical work in order to avoid missed diagnosis or delayed treatment and intervention. By analyzing this case, the patient may also suffer from facial nerve dysplasia. Preoperatively viewing CT scan and operatively facial nerve monitor being used can avoid the occurrence of surgical complications.
Blepharophimosis ; complications ; genetics ; Child ; Forkhead Transcription Factors ; Hearing Loss, Sensorineural ; congenital ; diagnosis ; Humans ; Mutation ; Skin Abnormalities ; complications ; genetics ; Urogenital Abnormalities ; complications ; genetics

A pregnant female taken realgar because of superstition, which caused the baby congenital deafness. Auditory test indicated that bilateral auditory brainstem response (ABR) hearing threshold level was greater than 90 dB nHL and auditory steady state response (ASSR) hearing level ranging from 0.5 kHz to 4 kHz was beyond 110 dB HL. Temporal bone CT showed that bilateral cochlear and semicircular canal malformations, with internal auditory canal broadened.
Arsenicals ; adverse effects ; Evoked Potentials, Auditory, Brain Stem ; Female ; Hearing Loss, Sensorineural ; chemically induced ; congenital ; Hearing Tests ; Humans ; Infant ; Maternal Exposure ; adverse effects ; Pregnancy ; Semicircular Canals ; pathology ; Sulfides ; adverse effects ; Temporal Bone ; pathology

OBJECTIVETo detect potential mutations of gap junction protein beta 2 (GJB2) and loricrin (LOR) genes in two patients with Vohwinkel syndrome.

METHODSPolymerase chain reaction and DNA sequencing were used for detecting potential mutations in the GJB2 and LOR genes. Parents of one patient and 50 healthy individuals were used as controls.

RESULTSA novel homozygous missense mutation (c.A796G) of LOR gene was detected in one patient. The same mutation was not found in the other patient, their relatives and the 50 healthy controls.

CONCLUSIONA missence mutation of LOR gene was detected in a patient with Vohwinkel syndrome.

Abnormalities, Multiple ; genetics ; pathology ; Adult ; Child, Preschool ; Connexin 26 ; Connexins ; genetics ; Female ; Hand Deformities, Congenital ; genetics ; pathology ; Hearing Loss, Sensorineural ; genetics ; pathology ; Humans ; Keratoderma, Palmoplantar ; genetics ; pathology ; Male ; Membrane Proteins ; genetics ; Mutation, Missense ; Sequence Analysis, DNA

PURPOSE: We report a case of congenital rubella syndrome with bilateral zonular cataracts. CASE SUMMARY: A 69-year-old man visited the hospital with visual disturbance in both eyes. His mother had been diagnosed with rubella during pregnancy, exhibiting typical fever and rashes. His visual acuity and hearing ability had been poor since birth. Corrected visual acuity was 0.3 in the right eye and 0.4 in the left eye. Slit lamp examination revealed bilateral zonular cataracts. On pure tone audiometry test, pure tone hearing threshold was 73 dB in the right ear and 72 dB in the left ear, corresponding to severe hearing loss in both ears. Echocardiogram showed a 1.5 cm-sized ostium secundum atrial septal defect, causing atrial fibrillation. Laboratory workup revealed an extremely high level of IgG antibody (titer = 1:301), and negative IgM antibody. A rubella IgG avidity test was 95.5%, suggesting remote rubella infection. Chromosomal analysis from peripheral blood did not show any abnormalities. The patient was diagnosed with congenital rubella syndrome with bilateral zonular cataracts. Two months after cataract surgery on both eyes, visual acuity steadily improved to 1.0 in both eyes. CONCLUSIONS: Congenital rubella syndrome is comprised of physical abnormalities such as sensorineural hearing loss, eye defects including congenital cataract, and cardiovascular defects due to gestational rubella infection. The possibility of congenital rubella syndrome should be considered even in old age, and a systemic multi-organ approach is necessary for therapeutic planning.
Atrial Fibrillation ; Audiometry ; Cataract ; Ear ; Exanthema ; Eye ; Fever ; Hearing ; Hearing Loss ; Hearing Loss, Sensorineural ; Heart Septal Defects, Atrial ; Humans ; Immunoglobulin G ; Immunoglobulin M ; Mothers ; Parturition ; Pregnancy ; Rubella ; Rubella Syndrome, Congenital ; Visual Acuity

A ten-year-old boy with bilateral moderate sensorineural hearing loss underwent computerized tomographic (CT) imaging (GE Brightspeed, Wisconsin, USA) of the temporal bone as part of the work-up to determine the etiology of his condition. The formal radiologic interpretation of the scan stated that the vestibular aqueducts were not enlarged. However, independent review of the axial CT images appeared to indicate the presence of enlarged vestibular aqueducts. (Figure 1) This can be contrasted with a scan from another patient with no evidence of sensorineural hearing loss. (Figure 2) What can explain the discrepancy between the two? If simple visual inspection of the vestibular aqueduct (VA) can lead to conflicting interpretations, then what radiographic parameters can be used to resolve the issue? Is there a more objective means of determining the presence of a clinically significant vestibular aqueduct enlargement? In 1978, Valvasorri and Clemis1 first described an association between congenital sensorineural hearing loss and an abnormality in vestibular aqueduct anatomy which they labelled as the “large vestibular aqueduct syndrome.” In this landmark study that utilized hypocycloidal polytomographic temporal bone studies, they proposed that a vestibular aqueduct is enlarged when its midpoint diameter is greater than 1.5 mm. Although this parameter is generally considered to be the defining characteristic of the condition, one must realize that this measurement was based on less accurate imaging technology and measurement tools. Contemporary studies utilize high-resolution CT imaging with digital workstation measurement software to evaluate vestibular aqueduct anatomy. Currently, the two most commonly used radiographic parameters are the VA midpoint (MP) width and the VA opercular (OP) width. (Figure 3) More recently, Boston et al.2 in 2007 published normative values for these parameters based on a study population of 73 children without known sensorineural hearing loss. They considered a vestibular aqueduct enlarged when one or both of the measured widths were above the 95th percentile of the normal study group measurements. On this basis, a VA midpoint width of >0.9 mm and/or a VA opercular width of >1.9 mm was the criteria established to define an enlarged vestibular aqueduct. The patient’s measured vestibular aqueduct midpoint width on the right was 2.1 mm, while the vestibular aqueduct opercular width was 2.9 mm. (Figure 4) These measurements, when evaluated against either the original Valvassori criteria or the newer criteria of Boston et al., confirm what was visually apparent– the presence of a clinically significant enlargement of the vestibular aqueduct as the etiology of the patient’s sensorineural hearing loss.
Human ; Male ; Child ; Vestibular Aqueduct-etiology ; Temporal Bone-radiology ; Tomography Scanners, X-Ray Computed ; Hearing Loss, Sensorineural ; Congenital Abnormalities ;

Kallmann syndrome (KS) is characterized by the association of hypogonadotropic hypogonadism and anosmia. Although the vast majority of KS cases are sporadic, some X-linked recessive (KAL1), autosomal dominant (FGFR1), and autosomal recessive (most commonly GNRHR) modes of inheritance have been described. Two boys were referred to our department because of cryptorchidism and the absence of puberty. Upon laboratory evaluation they were diagnosed with hypogonadotropic hypogonadism. Agenesis of the olfactory bulbs was detected in radiologic tests, and total deletion of the KAL1 gene was detected through multiplex ligation-dependent probe amplification (MLPA). Although cryptorchidism was diagnosed in the siblings, only the older brother suffered from sensorineural hearing loss and right renal agenesis, a feature that had been reported in X-linked KS. We describe herein the clinical heterogeneity of two affected brothers who carry a complete deletion in KAL1; this is the first case of familial Kallmann syndrome due to the complete deletion of the KAL1 gene reported in Korea.
Congenital Abnormalities ; Cryptorchidism ; Hearing Loss, Sensorineural ; Humans ; Hypogonadism ; Kallmann Syndrome ; Kidney ; Kidney Diseases ; Korea ; Male ; Multiplex Polymerase Chain Reaction ; Olfaction Disorders ; Olfactory Bulb ; Population Characteristics ; Puberty ; Siblings ; Wills